Stand:16.07.2024
- 22.05.2024
Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients
J Neurol. 2024 May 22. >>PubMed-Link<<
Elisabetta Indelicato, Lea D Schlieben, Sarah L Stenton, Sylvia Boesch, Matej Skorvanek, Jan Necpal, Robert Jech, Juliane Winkelmann, Holger Prokisch, Michael Zech - 13.03.2024
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
Brain. 2024 Mar 13. >>PubMed-Link<<
Beryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, Elisa Floride, Victoria Nesbitt, Carl Fratter, Johannes Koch, Birgit Kauffmann, Claudia Catarino, Lea Dewi Schlieben, Robert Kopajtich, Valerio Carelli, Alfredo A Sadun, Robert McFarland, Fang Fang, Chiara La Morgia, Stéphanie Paquay, Marie Cécile Nassogne, Daniele Ghezzi, Costanza Lamperti, Saskia Wortmann, Jo Poulton, Thomas Klopstock, Holger Prokisch - 28.02.2024
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial
Cell Rep Med. 2024 Feb 28. >>PubMed-Link<<
Patrick Yu-Wai-Man, Valerio Carelli, Nancy J Newman, Magda Joana Silva, Aki Linden, Gregory Van Stavern, Jacek P Szaflik, Rudrani Banik, Wojciech Lubiński, Berthold Pemp, Yaping Joyce Liao, Prem S Subramanian, Marta Misiuk-Hojło, Steven Newman, Lorena Castillo, Jarosław Kocięcki, Marc H Levin, Francisco Jose Muñoz-Negrete, Ali Yagan, Sylvia Cherninkova, David Katz, Audrey Meunier, Marcela Votruba, Magdalena Korwin, Jacek Dziedziak, Neringa Jurkutė, Joshua P Harvey, Chiara La Morgia, Claudia Priglinger, Xavier Llòria, Livia Tomasso, Thomas Klopstock; LEROS Study Group - 20.02.2024
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
Cell Rep Med. 2024 Feb 20. >>PubMed-Link<<
Serena Jasmine Aleo, Valentina Del Dotto, Martina Romagnoli, Claudio Fiorini, Giada Capirossi, Camille Peron, Alessandra Maresca, Leonardo Caporali, Mariantonietta Capristo, Concetta Valentina Tropeano, Claudia Zanna, Fred N Ross-Cisneros, Alfredo A Sadun, Maria Gemma Pignataro, Carla Giordano, Chiara Fasano, Andrea Cavaliere, Anna Maria Porcelli, Gaia Tioli, Francesco Musiani, Alessia Catania, Costanza Lamperti, Stefania Bianchi Marzoli, Annamaria De Negri, Maria Lucia Cascavilla, Marco Battista, Piero Barboni, Michele Carbonelli, Giulia Amore, Chiara La Morgia, Dmitrii Smirnov, Catalina Vasilescu, Aiman Farzeen, Beryll Blickhaeuser, Holger Prokisch, Claudia Priglinger, Bettina Livonius, Claudia B Catarino, Thomas Klopstock, Valeria Tiranti, Valerio Carelli, Anna Maria Ghell – Paper of the Quarter – Q I / 2024 (Research for Rare) - 14.11.2023
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine
Mov Disord. 2023 Nov 14. >>PubMed-Link<<
Elisabetta Indelicato, Sylvia Boesch, Niccolo‘ E Mencacci, Daniele Ghezzi, Holger Prokisch, Juliane Winkelmann, Michael Zech - 23. JULI 2023
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction
Mov Disord. 2023 Jul 23. >>PubMed-Link<<
Philip Harrer, Matej Škorvánek, Volker Kittke, Ivana Dzinovic, Friederike Borngräber, Mirja Thomsen, Vanessa Mandel, Tatiana Svorenova, Miriam Ostrozovicova, Kristina Kulcsarova, Riccardo Berutti, Hauke Busch, Fabian Ott, Robert Kopajtich, Holger Prokisch, Kishore R Kumar, Niccolo E Mencacci, Manju A Kurian, Alessio Di Fonzo, Sylvia Boesch, Andrea A Kühn, Ulrike Blümlein, Katja Lohmann, Bernhard Haslinger, David Weise, Robert Jech, Juliane Winkelmann, Michael Zech - 02. JUNI 2023
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial
Neurology. 2023 Jun 2. >>PubMed-Link<<
Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce H Cohen, Gregory M Enns, Marni J Falk, Amy Goldstein, Gráinne Siobhan Gorman, Richard Haas, Michio Hirano, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Costanza Lamperti, Anna Lehman, Nicola Longo, Maria Judit Molnar, Sumit Parikh, Han Phan, Robert D S Pitceathly, Russell Saneto, Fernando Scaglia, Serenella Servidei, Mark Tarnopolsky, Antonio Toscano, Johan L K Van Hove, John Vissing, Jerry Vockley, Jeffrey S Finman, David A Brown, James A Shiffer, Michelango Mancuso for the MMPOWER-3 Trial Investigators - 01. JUNI 2023
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Genet Med. 2023 Jun. >>PubMed-Link<<
Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch, René G Feichtinger, Johannes A Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes Pechlaner, Fowzan S Alkuraya, Joshua J Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M Das, Niklas Darin, Adela Della Marina, Felix Distelmaier, Erik A Eklund, Melike Ersoy, Weiyan Fang, Pauline Gaignard, Rebecca D Ganetzky, Emmanuel Gonzales, Caoimhe Howard, Joanne Hughes, Vassiliki Konstantopoulou, Melis Kose, Marina Kerr, Aneal Khan, Dominic Lenz, Robert McFarland, Merav Gil Margolis, Kevin Morrison, Thomas Müller, Kei Murayama, Emanuele Nicastro, Alessandra Pennisi, Heidi Peters, Dorota Piekutowska-Abramczuk, Agnès Rötig, René Santer, Fernando Scaglia, Manuel Schiff, Mohmmad Shagrani, Mark Sharrard, Claudia Soler-Alfonso, Christian Staufner, Imogen Storey, Michael Stormon, Robert W Taylor, David R Thorburn, Elisa Leao Teles, Jian-She Wang, Daniel Weghuber, Saskia Wortmann - 09. MAI 2023
Age-dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy
Eur J Neurol. 2023 May 9. >>PubMed-Link<<
Benedikt Schworm, Jakob Siedlecki, Claudia Catarino, Bettina von Livonius, Daniel R Muth, Guenther Rudolph, Joachim Havla, Thomas Klopstock, Claudia Priglinger - 01. MAI 2023
Aberrant splicing prediction across human tissues
Nat Genet. 2023 May. >>PubMed-Link<<
Nils Wagner, Muhammed H Çelik, Florian R Hölzlwimmer, Christian Mertes, Holger Prokisch, Vicente A Yépez, Julien Gagneur - 24. FEBRUAR 2023
Genetics of mitochondrial diseases: Current approaches for the molecular diagnosisHandb Clin Neurol. 2023. >>PubMed-Link<<
Lea D Schlieben, Holger Prokisch - 01. FEBRUAR 2023
Neuroimaging in mitochondrial disease
Handb Clin Neurol. 2023. >>PubMed-Link<<
Felix Distelmaier, Thomas Klopstock - 01. FEBRUAR 2023
Clinical trials in mitochondrial diseases
Handb Clin Neurol. 2023. >>PubMed-Link<<
Amel Karaa, Thomas Klopstock - 05. JANUAR 2023
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
Am J Hum Genet. 2023 Jan 5. >>PubMed-Link<< // >>Published Erratum<<
Maimuna S Paul, Anna R Duncan, Casie A Genetti, Hongling Pan, Adam Jackson, Patricia E Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Blümlein, Tobias B Haack, Wolfram Heinritz, Eva Matzker, Bader Alhaddad, Rami Abou Jamra, Tobias Bartolomaeus, Saber AlHamdan, Raphael Carapito, Bertrand Isidor, Seiamak Bahram, Alyssa Ritter, Kosuke Izumi, Ben Pode Shakked, Ortal Barel, Bruria Ben Zeev, Amber Begtrup, Deanna Alexis Carere, Sureni V Mullegama, Timothy Blake Palculict, Daniel G Calame, Katharina Schwan, Alicia R P Aycinena, Rasa Traberg; Genomics England Research Consortium; Sofia Douzgou, Harrison Pirt, Naila Ismayilova, Siddharth Banka, Hsiao-Tuan Chao, Pankaj B Agrawal - 19. NOVEMBER 2022
Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate
Metabolites. 2022 Nov 19. >>PubMed-Link<<
Pushpa Raj Joshi, Maria Gräfin Zu Stolberg-Stolberg, Leila Motlagh Scholle, Beate Meinhardt, Elena Pegoraro, Stephan Zierz - 01. SEPTEMBER 2022
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy
Kidney Int. 2022 Sept. >>PubMed-Link<<
Stefania Drovandi, Beata S Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Szymon Ziętkiewicz, Hong Xu, Qian Shen, Jia Rao, Korbinian M Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L Stenton, Alexey N Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Anne M Schijvens, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Fang Deng, Caroline Rousset-Rouviere, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, PodoNet Consortium, mitoNET Consortium, CCGKDD Consortium, Franz Schaefer - 01. SEPTEMBER 2022
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency
Kidney Int. 2022 Sept. >>PubMed-Link<<
Stefania Drovandi, Beata S Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Hong Xu, Qian Shen, Jia Rao, Korbinian M Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L Stenton, Alexey N Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Michiel F Schreuder, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Cuihua Liu, Shuzhen Sun , Fang Deng, Xiaowen Wang, Stéphanie Clavé, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, PodoNet Consortium, mitoNET Consortium, CCGKDD Consortium, Franz Schaefer - 01. SEPTEMBER 2022
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease
Mov Disord. 2022 Sep 1. >>PubMed-Link<<
Isabell Cordts, Luisa Semmler, Jannik Prasuhn, Annette Seibt, Diran Herebian, Tharsini Navaratnarajah, Joohyun Park, Natalie Deininger, Lucia Laugwitz, Sophia L Göricke, Paul Lingor, Norbert Brüggemann, Alexander Münchau, Matthis Synofzik, Dagmar Timmann, Johannes A Mayr, Tobias B Haack, Felix Distelmaier, Marcus Deschauer - 18. AUGUST 2022
Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer
J Natl Cancer Inst. 2022 Aug 18. >>PubMed-Link<<
Christian P Kratz, Dmitrii Smirnov, Robert Autry, Natalie Jäger, Sebastian M Waszak, Anika Großhennig, Riccardo Berutti, Mareike Wendorff, Pierre Hainaut, Stefan M Pfister, Holger Prokisch, Tim Ripperger, David Malkin - 09. AUGUST 2022
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study
Orphanet J Rare Dis. 2022 Aug 9. >>PubMed-Link<<
Julia Zibold, Bettina von Livonius, Hana Kolarova, Günter Rudolph, Claudia S Priglinger, Thomas Klopstock, Claudia B Catarino - 14. JUNI 2022
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD ND ): Time to Move Beyond the Skin
Mov Disord. 2022 Jun 14. >>PubMed-Link<<
Isabell Cordts, Demet Önder, Andreas Traschütz, Xenia Kobeleva, Ivan Karin, Martina Minnerop, Peter Koertvelyessy, Saskia Biskup, Stephan Forchhammer, Johannes Binder, Andreas Tzschach, Frank Meiss, Axel Schmidt, Martina Kreiß, Kirsten Cremer, Martin A Mensah, Joohyun Park, Maren Rautenberg, Natalie Deininger, Marc Sturm, Paul Lingor, Thomas Klopstock, Markus Weiler, Franz Marxreiter, Matthis Synofzik, Christian Posch, Judith Sirokay, Thomas Klockgether, Tobias B Haack, Marcus Deschauer - 01. JUNI 2022
How many molecules of mitochondrial complex I are in a cell?
Anal Biochem. 2022 Jun 1. >>PubMed-Link<<
Fariha Ansari, Belem Yoval, Zoya Niatsetskaya, Vadim Ten, Ilka Wittig, Alexander Galkin - 29. MAY 2022
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes
Hum Mutat. 2022 May 29. >>PubMed-Link<<
Dmitrii Smirnov, Lea D Schlieben, Fatemeh Peymani, Riccardo Berutti, Holger Prokisch - 01. MAY 2022
Redox-dependent loss of flavin by mitochondria complex I is different in brain and heart
Redox Biol. 2022 May. >>PubMed-Link<<
Belem Yoval-Sánchez, Fariha Ansari, Joel James, Zoya Niatsetskaya, Sergey Sosunov, Peter Filipenko, Irina G Tikhonova, Vadim Ten, Ilka Wittig, Ruslan Rafikov, Alexander Galkin - 05. April 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Genome Med. 2022 Apr 5. >>PubMed-Link<<
Vicente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Charlotte L Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J Hayflick, Maja Hempel, Yulia S Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L Stenton, Tim M Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W Taylor, Saskia B Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch – Paper of the Quarter – Q II / 2022 (Research for Rare) - 01. MÄRZ 2022
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease
Adv Genet (Hoboken). 2022 Mar. >>PubMed-Link<<
Amel Karaa, Laura E MacMullen, John C Campbell, John Christodoulou, Bruce H Cohen, Thomas Klopstock, Yasutoshi Koga, Costanza Lamperti, Rob van Maanen, Robert McFarland, Sumit Parikh, Shamima Rahman, Fernando Scaglia, Alexander V Sherman, Philip Yeske, Marni J Falk - 21. FEBRUAR 2022
Childhood versus early-teenage onset Leber’s hereditary optic neuropathy: visual prognosis and capacity for recovery
Br J Ophthalmol. 2022 Feb 21. [Epub ahead of print]. >>PubMed-Link<<
Jakob Siedlecki, Susanna Koenig, Claudia Catarino, Markus M Schaumberger, Benedikt Schworm, Siegfried Georg Priglinger, Guenther Rudolph, Bettina von Livonius, Thomas Klopstock, Claudia S Priglinger - 18. FEBRUAR 2022
A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2
Biomolecules. 2022 Feb 18. >>PubMed-Link<<
Maike Werning, Verena Dobretzberger, Martin Brenne, Ernst W Müllner, Georg Mlynek, Kristina Djinovic-Carugo, David M Baron, Lena Fragner, Almut T Bischoff, Boriana Büchner, Thomas Klopstock, Wolfram Weckwerth, Ulrich Salzer - 10. FEBRUAR 2022
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
Brain. 2022 Feb 10. [Epub ahead of print]. >>PubMed-Link<<
Sarah L Stenton, Marketa Tesarova, Natalia L Sheremet, Claudia Catarino, Valerio Carelli, Elżbieta Ciara, Kathryn Curry, Martin Engvall, Leah R Fleming, Peter Freisinger, Katarzyna Iwanicka-Pronicka, Elżbieta Jurkiewicz, Thomas Klopstock, Mary K Koenig, Hana Kolářová, Bohdan Kousal, Tatiana Krylova, Chiara La Morgia, Lenka Nosková, Dorota Piekutowska-Abramczuk, Sam N Russo, Viktor Stránecký, Iveta Tóthová, Frank Träisk, Holger Prokisch – Paper of the Quarter – Q I / 2022 (Research for Rare) - 20. JANUAR 2022
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes
Annals of Neurology. 2022 Feb. Epub 2022 Jan 20. >>PubMed-Link<<
Michael Zech, Robert Kopajtich, Katja Steinbrücker, Céline Bris, Naig Gueguen, René G Feichtinger, Melanie T Achleitner, Neslihan Duzkale, Maximilien Périvier, Johannes Koch, Harald Engelhardt, Peter Freisinger, Matias Wagner, Theresa Brunet, Riccardo Berutti, Dmitrii Smirnov, Tharsini Navaratnarajah, Richard J T Rodenburg, Lynn S Pais, Christina Austin-Tse, Melanie O’Leary, Sylvia Boesch, Robert Jech, Somayeh Bakhtiari, Sheng Chih Jin, Friederike Wilbert, Michael C Kruer, Saskia B Wortmann, Matthias Eckenweiler, Johannes A Mayr, Felix Distelmaier, Robert Steinfeld, Juliane Winkelman, Holger Prokisch - 06. JANUAR 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
Hum Mutat. 2022 Jan 6. >>PubMed-Link<<
Marcello Scala, Saskia B Wortmann, Namik Kaya, Menno D Stellingwerff, Angela Pistorio, Emma Glamuzina, Clara D van Karnebeek, Cristina Skrypnyk, Katarzyna Iwanicka-Pronicka, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Frederic Tort, Beth Sheidley, Annapurna Poduri, Parul Jayakar, Anuj Jayakar, Jariya Upadia, Nicolette Walano, Tobias B Haack, Holger Prokisch, Hesham Aldhalaan, Ehsan G Karimiani, Yilmaz Yildiz, Ahmet C Ceylan, Teresa Santiago-Sim, Amy Dameron, Hui Yang, Mehran B Toosi, Farah Ashrafzadeh, Javad Akhondian, Shima Imannezhad, Hanieh S Mirzadeh, Shazia Maqbool, Aisha Farid, Mohamed A Al-Muhaizea, Meznah O Alshwameen, Lama Aldowsari, Maysoon Alsagob, Ashwaq Alyousef, Rawan AlMass, Aljouhra AlHargan, Ali H Alwadei, Maha M AlRasheed, Dilek Colak, Hanan Alqudairy, Sameena Khan, Matthew A Lines, M Ángeles García Cazorla, Antonia Ribes, Eva Morava, Farah Bibi, Shahzad Haider, Matteo P Ferla, Jenny C Taylor, Hessa S Alsaif, Abdulwahab Firdous, Mais Hashem, Chingiz Shashkin, Kairgali Koneev, Rauan Kaiyrzhanov, Stephanie Efthymiou, Queen Square Genomics, Thomas Schmitt-Mechelke, Andreas Ziegler, Mahmoud Y Issa, Hasnaa M Elbendary, Pasquale Striano, Fowzan S Alkuraya, Maha S Zaki, Joseph G Gleeson, Tahsin Stefan Barakat, Jorgen Bierau, Marjo S van der Knaap, Reza Maroofian, Henry Houlden - 01. JANUAR 2022
Mitochondrial Retinopathy
Ophthalmol Retina. 2022 Jan. >>PubMed-Link<<
Johannes Birtel, Christina von Landenberg, Martin Gliem, Carla Gliem, Jens Reimann, Wolfram S Kunz, Philipp Herrmann, Christian Betz, Richard Caswell, Victoria Nesbitt, Cornelia Kornblum, Peter Charbel Issa - 29. NOVEMBER 2021
Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA
Cells. 2021 Nov 29. >>PubMed-Link<<
Jana Key, Sylvia Torres-Odio, Nina C Bach, Suzana Gispert, Gabriele Koepf, Marina Reichlmeir, A Phillip West, Holger Prokisch, Peter Freisinger, William G Newman, Stavit Shalev, Stephan A Sieber, Ilka Wittig, Georg Auburger - 08. NOVEMBER 2021
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes
EMBO Mol Med. 2021 Nov 8. >>PubMed-Link<<
Silvia Vidali, Raffaele Gerlini, Kyle Thompson, Jill E Urquhart, Jana Meisterknecht, Juan Antonio Aguilar-Pimentel, Oana V Amarie, Lore Becker, Catherine Breen, Julia Calzada-Wack, Nirav F Chhabra, Yi-Li Cho, Patricia da Silva-Buttkus, René G Feichtinger, Kristine Gampe, Lillian Garrett, Kai P Hoefig, Sabine M Hölter, Elisabeth Jameson, Tanja Klein-Rodewald, Stefanie Leuchtenberger, Susan Marschall, Philipp Mayer-Kuckuk, Gregor Miller, Manuela A Oestereicher, Kristina Pfannes, Birgit Rathkolb, Jan Rozman, Charlotte Sanders, Nadine Spielmann, Claudia Stoeger, Marten Szibor, Irina Treise, John H Walter, Wolfgang Wurst, Johannes A Mayr, Helmut Fuchs, Ulrich Gärtner, Ilka Wittig, Robert W Taylor, William G Newman, Holger Prokisch, Valerie Gailus-Durner, Martin Hrabě de Angelis - 05. NOVEMBER 2021
Mitochondrial disorders
Dtsch Arztebl Int 2021; 118: 741–8. >>aerzteblatt.de<<
Thomas Klopstock, Claudia Priglinger, Ali Yilmaz, Cornelia Kornblum, Felix Distelmaier, Holger Prokisch - 01. NOVEMBER 2021
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
J Exp Med. 2021 Nov 1. >>PubMed-Link<<
Amelie T van der Ven, Jessika Johannsen, Fanny Kortüm, Matias Wagner, Konstantinos Tsiakas, Tatjana Bierhals, Davor Lessel, Theresia Herget, Katja Kloth, Jasmin Lisfeld, Tasja Scholz, Nadia Obi, Saskia Wortmann, Holger Prokisch, Christian Kubisch, Jonas Denecke, René Santer, Maja Hempel - 22. OKTOBER 2021
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3
Brain. 2021 Oct 22. >>PubMed-Link<<
Federica Invernizzi, Andrea Legati, Alessia Nasca, Eleonora Lamantea, Barbara Garavaglia, Mirjana Gusic, Robert Kopajtich, Holger Prokisch, Massimo Zeviani, Costanza Lamperti, Daniele Ghezzi - 21. OKTOBER 2021
Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption
Mol Ther Nucleic Acids. 2021 Oct 21. >>PubMed-Link<<
Christoph Jüschke, Thomas Klopstock, Claudia B Catarino, Marta Owczarek-Lipska, Bernd Wissinger, John Neidhardt - 14. OKTOBER 2021
Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers
Int J Mol Sci. 2021 Oct 14. >>PubMed-Link<<
Matthias Elstner, Konrad Olszewski, Holger Prokisch, Thomas Klopstock, Marta Murgia - 01. OKTOBER 2021
Gene Therapies for the Treatment of Leber Hereditary Optic Neuropathy
Int Ophthalmol Clin 2021; 61(4): 195-208 >>PubMed-Link<<
Sahel JA, Newman NJ, Yu-Wai-Man P, Vignal-Clermont C, Carelli V, Biousse V, Moster ML, Sergott R, Klopstock T, Sadun AA, Blouin L, Katz B, Taiel M. - 01. OKTOBER 2021
Quantification of NADH:ubiquinone oxidoreductase (complex I) content in biological samples
J Biol Chem. 2021 Oct. >>PubMed-Link<<
Fariha Ansari, Belem Yoval-Sánchez, Zoya Niatsetskaya, Sergey Sosunov, Anna Stepanova, Christian Garcia, Edward Owusu-Ansah, Vadim Ten, Ilka Wittig, Alexander Galkin - 01. OKTOBER 2021
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse
Neurogenetic. 2021 Oct. >>PubMed-Link<<
Maletzko A., Key J., Wittig I., Gispert S., Koepf G., Canet-Pons J., Torres-Odio S., West A. P., Auburger G. - 01. SEPTEMEBER 2021
Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies
J Neuroophthalmol. 2021 Sep; 41(3): 298–308. >>PubMed-Link<<
Moster ML, Sergott RC, Newman NJ, Yu-Wai-Man P, Carelli V, Bryan MS, Smits G, Biousse V, Vignal-Clermont C, Klopstock T, Sadun AA, DeBusk AA, Carbonelli M, Hage R, Priglinger S, Karanjia R, Blouin L, Taiel M, Katz B, Sahel JA - 01. SEPTEMEBER 2021
Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study
J Neuroophthalmol. 2021 Sep 1; 41(3):309-315. >>PubMed-Link<<
Valérie Biousse, Nancy J Newman, Patrick Yu-Wai-Man, Valerio Carelli, Mark L Moster, Catherine Vignal-Clermont, Thomas Klopstock, Alfredo A Sadun, Robert C Sergott, Rabih Hage, Simona Esposti, Chiara La Morgia, Claudia Priglinger, Rustum Karanja, Laure Blouin, Magali Taiel, José-Alain Sahel; LHON Study Group - 06. AUGUST 2021
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
Am J Hum Genet. 2020 Aug 6. >>PubMed-Link<<
Ralf A Husain, Mona Grimmel, Matias Wagner, J Christopher Hennings, Christian Marx, René G Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler-Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Arnaud Besse, Andy Cheuk-Him Ng, Diana Chiang, Francois Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K Huebner, Rebecca Buchert, Stefanie Beck-Woedl, Amelie J Müller, Lucia Laugwitz, Thomas Nägele, Zhao-Qi Wang, Tim M Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Riess, Thomas Klopstock, Ulrich Brandl, Christian A Hübner, Marcus Deschauer, Johannes A Mayr, Penelope E Bonnen, Ingeborg Krägeloh-Mann, Saskia B Wortmann, Tobias B Haack - 01. AUGUST 2021
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect
Mol Genet Metab. 2021 Aug. [Epub ahead of print] >>PubMed-Link<<
Marisa W Friederich, Gabrielle C Geddes, Saskia B Wortmann, Ann Punnoose, Eric Wartchow, Kaz M Knight, Holger Prokisch, Geralyn Creadon-Swindell, Johannes A Mayr, Johan L K Van Hove - 26.JULI 2021
A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta
Mol Genet Metab. 2021 Aug. >>PubMed-Link<<
Ahmed El-Gazzar, Johannes A Mayr, Barbara Voraberger, Karin Brugger, Stéphane Blouin, Katharina Tischlinger, Hans-Christoph Duba, Holger Prokisch, Nadja Fratzl-Zelman, Wolfgang Högler - 21. JULI 2021
Complexome Profiling: Assembly and Remodeling of Protein Complexes
Int J Mol Sci. 2021 Jul 21;22(15):7809. [Epub ahead of print] >>PubMed-Link<<
Ilka Wittig, Pedro Felipe Malacarne - 20. JULI 2021
Robust Huber-LASSO for improved prediction of protein, metabolite and gene expression levels relying on individual genotype data
Brief Bioinform. 2021 Jul 20. >>PubMed-Link<<
Heike Deutelmoser, Dominique Scherer, Hermann Brenner, Melanie Waldenberger, INTERVAL study; Karsten Suhre, Gabi Kastenmüller, Justo Lorenzo Bermejo - 20. JULI 2021
Natural History of Polymerase Gamma-Related Ataxia
Mov Disord. 2021 Jul 20. [Epub ahead of print] >>PubMed-Link<<
Friedemann Bender, Dagmar Timmann, Bart P van de Warrenburg, Astrid D Adarmes-Gómez, Benjamin Bender, Andreas Thieme, Matthis Synofzik, Ludger Schöls - 01. JULI 2021
Mitochondrial disease in adults: recent advances and future promise
Lancet Neurol. 2021 Jul. >>PubMed-Link<<
Ng, Y. S., Bindoff, L. A., Gorman, G. S., Klopstock, T., Kornblum, C., Mancuso, M., McFarland, R., Sue, C. M., Suomalainen, A., Taylor, R. W., Thorburn, D. R., Turnbull, D. M. – Paper of the Quarter – Q III / 2021 (Research for Rare) - 01. JULI 2021
CEDAR, an online resource for the reporting and exploration of complexome profiling data
Biochim Biophys Acta Bioenerg. 2021 Jul 1. [Epub ahead of print] >>PubMed-Link<<
Joeri van Strien, Alexander Haupt, Uwe Schulte, Hans-Peter Braun, Alfredo Cabrera-Orefice, Jyoti S Choudhary, Felix Evers, Erika Fernandez-Vizarra, Sergio Guerrero-Castillo, Taco W A Kooij, Petra Páleníková, Mercedes Pardo, Cristina Ugalde, Ilka Wittig, Lars Wöhlbrand, Ulrich Brandt, Susanne Arnold, Martijn A Huynen - 02. JUNI 2021
Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation
Commun Biol. 2021 Jun 2. [Epub ahead of print] >>PubMed-Link<<
Alexandra Stavsky, Ohad Stoler, Marko Kostic, Tomer Katoshevsky, Essam A Assali, Ivana Savic, Yael Amitai, Holger Prokisch, Steffen Leiz, Cornelia Daumer-Haas, Ilya Fleidervish, Fabiana Perocchi, Daniel Gitler, Israel Sekler - 01. JUNI 2021
How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data
Front Mol Biosci. 2021 Jun 1;8:647277 >>PubMed-Link<<
Schlieben, L. D., Prokisch, H., Yépez, V. A. - 01. JUNI 2021
Physiological extremes of the human blood metabolome: A metabolomics analysis of highly glycolytic, oxidative, and anabolic athletes
Physiol Rep. 2021 Jun [Epub ahead of print] >>PubMed-Link<<
Daniela Schranner, Martin Schönfelder, Werner Römisch-Margl, Johannes Scherr, Jürgen Schlegel, Otto Zelger, Annett Riermeier, Stephanie Kaps, Cornelia Prehn, Jerzy Adamski, Quirin Söhnlein, Fabian Stöcker, Florian Kreuzpointner, Martin Halle, Gabi Kastenmüller, Henning Wackerhage - 24. MAI 2021
Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect ComparisonFront
Neurol. 2021 May 24. >>PubMed-Link<<
Newman NJ, Yu-Wai-Man P, Carelli V, Biousse V, Moster ML, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA - 11. MÄRZ 2021
Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study
Orphanet J Rare Dis. 2021 Mar 11. >>PubMed-Link<<
Andrea Rabenstein, Claudia B Catarino, Verena Rampeltshammer, David Schindler, Constanze Gallenmüller, Claudia Priglinger, Oliver Pogarell, Tobias Rüther, Thomas Klopstock - 2. MÄRZ 2021
Genetic basis of mitochondrial diseases
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Mirjana Gusic, Holger Prokisch - 3. MÄRZ 2021
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
Brain. 2021 Mar 3.[Epub ahead of print] >>PubMed-Link<<
Korbinian M Riedhammer, Sylvia Stockler, Rafal Ploski, Maren Wenzel, Burkhard Adis-Dutschmann, Uwe Ahting, Bader Alhaddad, Astrid Blaschek, Tobias B Haack, Robert Kopajtich, Jessica Lee, Victor Murcia Pienkowski, Agnieszka Pollak, Krystyna Szymanska, Maja Tarailo-Graovac, Robin van der Lee, Clara D van Karnebeek, Thomas Meitinger, Ingeborg Krägeloh-Mann, Katharina Vill - 1. MÄRZ 2021
Plasma metabolites to profile pathways in noncommunicable disease multimorbidity
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Maik Pietzner, Isobel D Stewart, Johannes Raffler, Kay-Tee Khaw, Gregory A Michelotti, Gabi Kastenmüller, Nicholas J Wareham, Claudia Langenberg - 26. FEBRUAR 2021
The value of qualitative muscle MRI in the diagnostic procedures of myopathies: a biopsy-controlled study in 191 patients
Ther Adv Neurol Disord. 2021 Feb 26. >>PubMed-Link<<
Diana Lehmann Urban, Mohamed Mohamed, Albert C Ludolph, Jan Kassubek, Angela Rosenbohm - 14. FEBRUAR 2021
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines
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Charlotte L Alston, Sarah L Stenton, Gavin Hudson, Holger Prokisch, Robert W Taylor - 04. FEBRUAR 2021
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy
Orphanet J Rare Dis 2021; 16(1): 64 >>PubMed-Link<<
Reinert MC, Pacheu-Grau D, Catarino CB, Klopstock T, Ohlenbusch A, Schittkowski M, Wilichowski E, Rehling P, Brockmann K. - 22. JANUAR 2021
Detection of aberrant splicing events in RNA-seq data using FRASER
Nat Commun. 2021 Jan 22.12(1):529.>>PubMed-Link<<
Christian Mertes, Ines F Scheller, Vicente A Yépez, Muhammed H Çelik, Yingjiqiong Liang, Laura S Kremer, Mirjana Gusic, Holger Prokisch, Julien Gagneur - 19. JANUAR 2021
Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
J Clin Invest. 2021 Jan 19 [Epub ahead of print] >>PubMed-Link<<
Sarah L Stenton, Natalia L Sheremet, Claudia B Catarino, Natalia Andreeva, Zahra Assouline, Piero Barboni, Ortal Barel, Riccardo Berutti, Igor O Bychkov, Leonardo Caporali, Mariantonietta Capristo, Michele Carbonelli, Maria Lucia Cascavilla, Peter Charbel Issa, Peter Freisinger, Sylvie Gerber, Daniele Ghezzi, Elisabeth Graf, Juliana Heidler, Maja Hempel, Elise Heon, Yulia S Itkis, Elisheva Javasky, Josseline Kaplan, Robert Kopajtich, Cornelia Kornblum, Reka Kovacs-Nagy, Tatiana Krylova, Wolfram S Kunz, Chiara La Morgia, Costanza Lamperti, Christina Ludwig, Pedro F Malacarne, Alessandra Maresca, Johannes A Mayr, Jana Meisterknecht, Tatiana Nevinitsyna, Flavia Palombo, Ben Pode-Shakked, Maria S Shmelkova, Tim M Strom, Francesca Tagliavini, Michal Tzadok, Amelie T van der Ven, Catherine Vignal-Clermont, Matias Wagner, Ekaterina Zakharova, Nino Zhorzholadze, Jen-Michel Rozet, Valerio Carelli, Polina Tsygankova, Thomas Klopstock, Ilka Wittig, Holger Prokisch - 18. JANUAR 2021
Detection of aberrant gene expression events in RNA sequencing data
Nat Protoc. 2021 Jan 18. [Epub ahead of print] >>PubMed-Link<<
Vicente A Yépez, Christian Mertes, Michaela F Müller, Daniela Klaproth-Andrade, Leonhard Wachutka, Laure Frésard, Mirjana Gusic, Ines F Scheller, Patricia F Goldberg, Holger Prokisch, Julien Gagneur - 12. JANUAR 2021
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset
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Nancy J Newman, Patrick Yu-Wai-Man, Valerio Carelli, Mark L Moster, Valerie Biousse, Catherine Vignal-Clermont, Robert C Sergott, Thomas Klopstock, Alfredo A Sadun, Piero Barboni, Adam A DeBusk, Jean François Girmens , Günther Rudolph, Rustum Karanjia, Magali Taiel, Laure Blouin, Gerard Smits, Barrett Katz, José-Alain Sahel, LHON Study Group - 01. JANUARY 2021
Mitochondrial Complexome Profiling
Methods Mol Biol. 2021. >>PubMed-Link<<
Heiko Giese, Jana Meisterknecht, Juliana Heidler, Ilka Wittig - 21. DEZEMBER 2020
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance
Hum Mutat. 2020 Dec 21. [Epub ahead of print] >>PubMed-Link<<
Sarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, Robert Kopajtich, Kristl G Claeys, Elżbieta Ciara, Johannes Eisen, Rafał Płoski, Ewa Pronicka, Katarzyna Malczyk, Matias Wagner, Saskia B Wortmann, Holger Prokisch - 9. DEZEMBER 2020
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy
Sci Transl Med. 2020 Dec 9. [Epub ahead of print] >>PubMed-Link<<
Patrick Yu-Wai-Man, Nancy J Newman, Valerio Carelli, Mark L Moster, Valerie Biousse, Alfredo A Sadun, Thomas Klopstock, Catherine Vignal-Clermont, Robert C Sergott, Günther Rudolph, Chiara La Morgia, Rustum Karanjia, Magali Taiel, Laure Blouin, Pierre Burguière, Gerard Smits, Caroline Chevalier, Harvey Masonson, Yordak Salermo, Barrett Katz, Serge Picaud, David J Calkins, José-Alain Sahel – Paper of the Quarter – Q IV / 2020 (Research for Rare) - 26. NOVEMBER 2020
The Dimensions of Primary Mitochondrial Disorders
Front Cell Dev Biol. 2020 Nov 26. [Epub ahead of print] >>PubMed-Link<<
Lea D Schlieben, Holger Prokisch - 22. NOVEMBER 2020
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
Mol Genet Metab Rep. 2020 Nov 22. >>PubMed-Link<<
Lara M Marten, Florian Brinkert, Desirée E C Smith, Holger Prokisch, Maja Hempel, René Santer - 1. NOVEMBER 2020
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
Eur J Med Genet. 2020 Nov. [Epub ahead of print] >>PubMed-Link<<
Sabine Illsinger, G Christoph Korenke, Sylvia Boesch, Michael Nocker, Daniela Karall, Jean M Nuoffer, Lucia Laugwitz, Johannes A Mayr, Sabine Scholl-Bürgi, Peter Freisinger, Tobias Kowald, Stefan Kölker, Holger Prokisch, Tobias B Haack - 13. OKTOBRER 2020
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis
Neurol Genet. 2020 Oct 13. eCollection 2020 Dec. >>PubMed-Link<<
Florentine Radelfahr, Korbinian M Riedhammer, Leonie F Keidel, Gwendolyn Gramer, Thomas Meitinger, Thomas Klopstock, Matias Wagner - 1. OKTOBER 2020
MIC26 and MIC27 cooperate to regulate cardiolipin levels and the landscape of OXPHOS complexes
Life Sci Alliance. 2020 Oct 1. [Epub ahead of print] >>PubMed-Link<<
Ruchika Anand, Arun Kumar Kondadi, Jana Meisterknecht, Mathias Golombek, Oliver Nortmann, Julia Riedel, Leon Peifer-Weiß, Nahal Brocke-Ahmadinejad, David Schlütermann, Björn Stork, Thomas O Eichmann, Ilka Wittig, Andreas S Reichert - 24. SEPTEMBER 2020
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I
EMBO Mol Med. 2020 Sep 24. [Epub ahead of print] >>PubMed-Link<<
Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor - 25. AUGUST 2020
Mitochondrial Regulation of the 26S Proteasome
Cell Rep. 2020 Aug 25. [Epub ahead of print] >>PubMed-Link<<
Thomas Meul, Korbinian Berschneider, Sabine Schmitt, Christoph H Mayr, Laura F Mattner, Herbert B Schiller, Ayse S Yazgili, Xinyuan Wang, Christina Lukas, Camille Schlesser, Cornelia Prehn, Jerzy Adamski, Elisabeth Graf, Thomas Schwarzmayr, Fabiana Perocchi, Alexandra Kukat, Aleksandra Trifunovic, Laura Kremer, Holger Prokisch, Bastian Popper, Christine von Toerne, Stefanie M Hauck, Hans Zischka, Silke Meiners - 6. AUGUST 2020
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
Am J Hum Genet. 2020 Aug 6. [Epub ahead of print] >>PubMed-Link<<
Ralf A Husain, Mona Grimmel, Matias Wagner, J Christopher Hennings, Christian Marx, René G Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler-Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Arnaud Besse, Andy Cheuk-Him Ng, Diana Chiang, Francois Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K Huebner, Rebecca Buchert, Stefanie Beck-Woedl, Amelie J Müller, Lucia Laugwitz, Thomas Nägele, Zhao-Qi Wang, Tim M Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Riess, Thomas Klopstock, Ulrich Brandl, Christian A Hübner, Marcus Deschauer, Johannes A Mayr, Penelope E Bonnen, Ingeborg Krägeloh-Mann, Saskia B Wortmann, Tobias B Haack – Paper of the Quarter – Q III / 2020 (Research for Rare) - 24. JULI 2020
The Effect of Resveratrol on Mitochondrial Function in Myoblasts of Patients with the Common m.3243A>G Mutation
Biomolecules. 2020 Jul 24. [Epub ahead of print] >>PubMed-Link<<
Leila Motlagh Scholle, Helena Schieffers, Samiya Al-Robaiy, Annemarie Thaele, Faramarz Dehghani, Diana Lehmann Urban, Stephan Zierz - 8. JUNI 2020
Multiple Pathways Coordinate Assembly of Human Mitochondrial Complex IV and Stabilization of Respiratory Supercomplexes
EMBO J. 2020 Jun 8. [Epub ahead of print] >>PubMed-Link<<
Teresa Lobo-Jarne, Rafael Pérez-Pérez, Flavia Fontanesi, Alba Timón-Gómez, Ilka Wittig, Ana Peñas, Pablo Serrano-Lorenzo, Inés García-Consuegra, Joaquín Arenas, Miguel A Martín, Antoni Barrientos, Cristina Ugalde - 1. JUNI 2020
The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders
Clin Lab Med. 2020 Jun >>Pub-Med-Link<<
Sarah L Stenton, Holger Prokisch - 1. JUNI 2020
Genetics of mitochondrial diseases: Identifying mutations to help diagnosis
EBioMedicine. 2020 Jun. [Epub ahead of print] >>PubMed-Link<<
Sarah L Stenton, Holger Prokisch - 16. APRIL 2020
Lifetime Risk of Autosomal Recessive Mitochondrial Disorders Calculated From Genetic Databases
EBioMedicine. 2020 Apr. [Epub ahead of print] >>PubMed-Link<<
Jing Tan, Matias Wagner, Sarah L Stenton, Tim M Strom, Saskia B Wortmann, Holger Prokisch, Thomas Meitinger, Konrad Oexle, Thomas Klopstock - 2. APRIL 2020
A Salvage Pathway Maintains Highly Functional Respiratory Complex I
Nat Commun. 2020 Apr 2. >>PubMed-Link<<
Karolina Szczepanowska, Katharina Senft, Juliana Heidler, Marija Herholz, Alexandra Kukat, Michaela Nicole Höhne, Eduard Hofsetz, Christina Becker, Sophie Kaspar, Heiko Giese, Klaus Zwicker, Sergio Guerrero-Castillo, Linda Baumann, Johanna Kauppila Anastasia Rumyantseva, Stefan Müller, Christian K Frese, Ulrich Brandt, Jan Riemer, Ilka Wittig, Aleksandra Trifunovic - 1. APRIL 2020
Antisense-Mediated Skipping of Dysferlin Exons in Control and Dysferlinopathy Patient-Derived Cells
Nucleic Acid Ther. 2020 Apr. [Epub ahead of print] >>PubMed-Link<<
Nisha Verwey, Isabella Gazzoli, Sabine Krause, Kamel Mamchaoui, Vincent Mouly, Annemieke Aartsma-Rus - 1. APRIL 2020
Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant
Neuromuscul Disord. 2020 Apr. >>PubMed-Link<<
Joshi PR, Baty K, Hopton S, Cordts I, Falkous G, Schoser B, Blakely EL, Taylor RW, Deschauer M - 10. FEBRUAR 2020
Respiratory chain signalling is essential for adaptive remodelling following cardiac ischaemia
J Cell Mol Med. 2020 Feb 10. [Epub ahead of print] >>PubMed-Link<<
Szibor M, Schreckenberg R, Gizatullina Z, Dufour E, Wiesnet M, Dhandapani PK, Debska-Vielhaber G, Heidler J, Wittig I, Nyman TA8, Gärtner U, Hall AR, Pell V, Viscomi C, Krieg T, Murphy MP, Braun T, Gellerich FN, Schlüter KD, Jacobs HT. - 1. FEBRUAR 2020
Bioenergetic consequences from xenotopic expression of a tunicate AOX in mouse mitochondria: Switch from RET and ROS to FET
Biochim Biophys Acta Bioenerg. 2020 Feb 1. [Epub ahead of print] >>PubMed-Link<<
Szibor M, Gainutdinov T, Fernandez-Vizarra E, Dufour E, Gizatullina Z, Debska-Vielhaber G, Heidler J, Wittig I, Viscomi C, Gellerich F, Moore AL. - 30. JANUAR 2020
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility
Hum Mutat. 2020 Jan 30. [Epub ahead of print] >>Pub-Med-Link<<
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F. - 13. JANUAR 2020
Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.
Neurol Genet. 2020 Jan 13 >> PubMed-Link<<
Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T; ATP6 Study Group - 2. JANUAR 2020
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency
Am J Hum Genet. 2020 Jan 2. [Epub ahead of print] >> PubMed-Link<<
Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW. - 2. JANUAR 2020
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
Am J Hum Genet. 2020 Jan 2. 106(1):102-111. >> PubMed-Link<<
Mirjana Gusic, Gudrun Schottmann, René G Feichtinger, Chen Du, Caroline Scholz, Matias Wagner, Johannes A Mayr, Chae-Young Lee, Vicente A Yépez, Norbert Lorenz, Susanne Morales-Gonzalez, Daan M Panneman, Agnès Rötig, Richard J T Rodenburg, Saskia B Wortmann, Holger Prokisch, Markus Schuelke - 1. JANUAR 2020
The diagnosis of inborn errors of metabolism by an integrative “multi-omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics
J Inherit Metab Dis. 2020 Jan. [Epub ahead of print] >>Pub-Med-Link<<
Stenton SL, Kremer LS, Kopajtich R, Ludwig C, Prokisch H. - 17. DEZEMBER 2019
Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy
Cell Rep. 2019 Dec 17. [Epub ahead of print] >>Pub-Med-Link<<
Murgia M, Tan J, Geyer PE, Doll S, Mann M, Klopstock T. - 13. DEZEMBER 2019
Consensus-based statements for the management of mitochondrial stroke-like episodes Wellcome Open Res. 2019 Dec 13;4:201. eCollection 2019 >>Pub-Med-Link<<
Ng YS, Bindoff LA, Gorman GS, Horvath R, Klopstock T, Mancuso M, Martikainen MH, Mcfarland R, Nesbitt V, Pitceathly RDS, Schaefer AM, Turnbull DM. - 11. DEZEMBER 2019
High-resolution cryo-EM Structures of Respiratory Complex I: Mechanism, Assembly, and Disease
Sci Adv. 2019 Dec 11. [Epub ahead of print] >>PubMed-Link<<
Kristian Parey, Outi Haapanen, Vivek Sharma, Harald Köfeler, Thomas Züllig, Simone Prinz, Karin Siegmund, Ilka Wittig, Deryck J Mills, Janet Vonck, Werner Kühlbrandt, Volker Zickermann - 01. NOVEMBER 2019
Leberʼsche hereditäre Optikusneuropathie [Leber’s Hereditary Optic Neuropathy]
Klin Monbl Augenheilkd. 2019 Nov. >>PubMed-Link<<
Claudia Priglinger, Thomas Klopstock Günter Rudolph, Siegfried Georg Priglinger - 29. OKTOBER 2019
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls
Orphanet J Rare Dis. 2019 Oct 29. >>PubMed-Link<<
Catania A1, Iuso A, Bouchereau J, Kremer LS, Paviolo M, Terrile C, Bénit P, Rasmusson AG, Schwarzmayr T, Tiranti V, Rustin P, Rak M, Prokisch H, Schiff M. - 24. SEPTEMBER 2019
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
J Clin Invest. 2019 Sep 24. [Epub ahead of print] >>PubMed-Link<<
Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Péron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan JA, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page MJ, Boesch S, Wortmann SB, Kopajtich R, Stong N, Sperl W, Davis E, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V – Paper of the month September 2019 (Research for Rare) - 20. SEPTEMBER 2019
Redox-Dependent Loss of Flavin by Mitochondrial Complex I in Brain Ischemia/Reperfusion Injury
Antioxid Redox Signal. 2019 Sep 20. [Epub ahead of print] >>PubMed-Link<<
Anna Stepanova, Sergey Sosunov, Zoya Niatsetskaya, Csaba Konrad, Anatoly A Starkov, Giovanni Manfredi, Ilka Wittig, Vadim Ten, Alexander Galkin - 01. Mai 2019
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases
Hum Mutat. 2019 May;40(5):499-515. >>PubMed-Link<<
Rebecca D Ganetzky, Claudia Stendel, Elizabeth M McCormick, Zarazuela Zolkipli-Cunningham, Amy C Goldstein, Thomas Klopstock, Marni J Falk - 01.MÄRZ 2019
Charles Bonnet syndrome in Leber’s hereditary optic neuropathy
J Neurol. 2019 Mar;266(3):777-779. >>PubMed-Link<<
Hana Kolarova, Claudia B Catarino, Claudia Priglinger, Thomas Klopstock - 20. JANUAR 2019
Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey
J Clin Neurosci. 2019 Jan. >>PubMed-Link<<
Joshi PR, Deschauer M, Zierz S - 1. NOVEMBER 2017
LYRM7 – associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study
Mitochondrion. 2017 Nov. [Epub ahead of print]
Hempel M, Kremer LS, Tsiakas K, Alhaddad B, Haack TB, Löbel U, Feichtinger RG, Sperl W, Prokisch H, Mayr JA, Santer R. - 1. JULI 2017
Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics
Mol Genet Metab. 2017 Jul. [Epub ahead of print]
Herebian D, Seibt A, Smits SH, Bünning G, Freyer C, Prokisch H, Karall D, Wredenberg A, Wedell A, López LC, Mayatepek E, Distelmaier F. - 14. FEBRUAR 2017
Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency
Neuromuscul Disord. 2017 Feb 14. pii: S0960-8966(16)30821-5. [Epub ahead of print]
Schrank B, Schoser B, Klopstock T, Schneiderat P, Horvath R, Abicht A, Holinski-Feder E, Augustis S - 1. FEBRUAR 2017
Treatable mitochondrial diseases: cofactor metabolism and beyond
Brain. 2017 Feb. [Epub ahead of print]
Distelmaier F, Haack TB, Wortmann SB, Mayr JA, Prokisch H. - 1. FEBRUAR 2017
Neonatal encephalocardiomyopathy caused by mutations in VARS2
Metab Brain Dis. 2017 Feb. [Epub ahead of print]
Baertling F, Alhaddad B, Seibt A, Budaeus S, Meitinger T, Strom TM, Mayatepek E, Schaper J, Prokisch H, Haack TB, Distelmaier F. - 26. JANUAR 2017
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Am J Hum Genet. 2017 Feb 2;100(2):257-266. Epub 2017 Jan 26.
Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MC, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M - 26. DEZEMBER 2016
FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons
Front. Cell. Neurosci., 26 December 2016.
Julia Higelin, Maria Demestre1, Stefan Putz, Jan P. Delling, Christian Jacob, Anne-Kathrin Lutz, Julia Bausinger, Anne-Kathrin Huber, Moritz Klingenstein, Gotthold Barbi, Günter Speit, Annemarie Huebers, Jochen H. Weishaupt, Andreas Hermann, Stefan Liebau, Albert C. Ludolph2 and Tobias M. Boeckers - 30. NOVEMBER 2016
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
Eur J Hum Genet. 2016 Nov 30. [Epub ahead of print]
Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Lüdecke HJ, Wieczorek D. - 25. NOVEMBER 2016
Mitochondrial replacement approaches: challenges for clinical implementation
Genome Med. 2016 Nov 25;8(1):126.
Klopstock T, Klopstock B, Prokisch H - 1. NOVEMBER 2016
The many faces of paediatric mitochondrial disease on neuroimaging
Childs Nerv Syst. 2016 Nov. [Epub ahead of print]
Baertling F, Klee D, Haack TB, Prokisch H, Meitinger T, Mayatepek E, Schaper J, Distelmaier F. - 19. OKTOBER 2016
Peripheral neuropathy in patients with Chronic Progressive External Ophthalmoplegia (CPEO) associated with single and multiple mtDNA deletions
Neurology Genetics 2016 Oct 19;2(6):e113. >>PubMed-Link<<
Lehmann D, Kornhuber ME, Clajus C, Deschauer M, Taylor RW, Zierz S. - 6. OKTOBER 2016
Characterization of a Leber’s hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DANN Mitochondrion. 2016 Oct 6. pii: S1567-7249(16)30205-7. [Epub ahead of print]
Catarino CB, Ahting U, Gusic M, Iuso A, Repp B, Peters K, Biskup S, von Livonius B, Prokisch H, Klopstock T. - 6. OKTOBER 2016
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
Am J Hum Genet. 2016 Oct 6. [Epub ahead of print]
Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H. - 1. SEPTEMBER 2016
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
The American Journal of Human Genetics 99, 16 Sept 01.
Tobias B. Haack, Erika Ignatius, Javier Calvo-Garrido, Arcangela Iuso, Pirjo Isohanni, Camilla Maffezzini, Tuula Lönnqvist, Anu Suomalainen, Matteo Gorza, Laura S. Kremer, Elisabeth Graf, Monika Hartig, Riccardo Berutti, Martin Paucar, Per Svenningsson, Henrik Stranneheim, Göran Brandberg, Anna Wedell, Manju A. Kurian, Susan A. Hayflick, Paola Venco, Valeria Tiranti, Tim M. Strom, Martin Dichgans, Rita Horvath, Elke Holinski-Feder, Christoph Freyer, Thomas Meitinger, Holger Prokisch, Jan Senderek, Anna Wredenberg, Christopher J. Carroll, and Thomas Klopstock – Paper of the month September 2016 (Research for Rare) - 1. SEPTEMBER 2016
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2
Am J Hum Genet. 2016 Sep 1. [Epub ahead of print]
Kennedy H, Haack TB, Hartill V, Mataković L, Baumgartner ER, Potter H, Mackay R, Alston CL, O’Sullivan S, McFarland R, Connolly G, Gannon C, King R, Mead S, Crozier I, Chan W, Florkowski CM, Sage M, Höfken T, Alhaddad B, Kremer LS, Kopajtich R, Feichtinger RG, Sperl W, Rodenburg RJ, Minet JC, Dobbie A, Strom TM, Meitinger T, George PM, Johnson CA, Taylor RW, Prokisch H, Doudney K, Mayr JA. - 1. SEPTEMBER 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
J Med Genet. 2016 Sep. [Epub ahead of print]
Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O’Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW. - 18. AUGUST 2016
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function
Mol Cell. 2016 Aug 18. [Epub ahead of print]
Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET, Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK, Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS, Rensvold JW, Taylor RW, Prokisch H, Kim JP, Coon JJ, Pagliarini DJ. - 1. AUGUST 2016
Severe respiratory complex III defect prevents liver adaptation to prolonged fasting
J Hepatol. 2016 Aug. [Epub ahead of print]
Kremer LS, L’hermitte-Stead C, Lesimple P, Gilleron M, Filaut S, Jardel C, Haack TB, Strom TM, Meitinger T, Azzouz H, Tebib N, Ogier de Baulny H, Touati G, Prokisch H, Lombès A. - 1. AUGUST 2016
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood
Eur J Hum Genet. 2016 Aug. [Epub ahead of print]
Collet M, Assouline Z, Bonnet D, Rio M, Iserin F, Sidi D, Goldenberg A, Lardennois C, Metodiev MD, Haberberger B, Haack T, Munnich A, Prokisch H, Rötig A. - 7. JULI 2016
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype
Am J Hum Genet. 2016 Jul 07 [Epub ahead of print]
Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham J, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan M, Thorburn DR, Taylor RW - 30. JUNI 2016
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3
Nat Commun. 2016 Jun 30.
Van Haute L, Dietmann S, Kremer L, Hussain S, Pearce SF, Powell CA, Rorbach J, Lantaff R, Blanco S, Sauer S, Kotzaeridou U, Hoffmann GF, Memari Y, Kolb-Kokocinski A, Durbin R, Mayr JA, Frye M, Prokisch H, Minczuk M. - 1. JUNI 2016
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum
Metab Brain Dis. 2016 Jun. [Epub ahead of print]
Danhauser K, Haack TB, Alhaddad B, Melcher M, Seibt A, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F. - 1. MAI 2016
Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German registry
J Neurol. 2016 May. [Epub ahead of print]
Altmann J, Büchner B, Nadaj-Pakleza A, Schäfer J, Jackson S, Lehmann D, Deschauer M, Kopajtich R, Lautenschläger R, Kuhn KA, Karle K, Schöls L, Schulz JB, Weis J, Prokisch H, Kornblum C, Claeys KG, Klopstock T. - 1. MÄRZ 2016
Life span extension by targeting a link between metabolism and histone acetylation in Drosophila
EMBO Rep. 2016 Mar.
Peleg S, Feller C, Forne I, Schiller E, Sévin DC, Schauer T, Regnard C, Straub T, Prestel M, Klima C, Schmitt Nogueira M, Becker L, Klopstock T, Sauer U, Becker PB, Imhof A, Ladurner AG. - 4. FEBRUAR 2016
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Am J Hum Genet. 2016 Feb 4. [Epub ahead of print]
Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB. - 1. FEBRUAR 2016
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration
Brain. 2016 Feb. [Epub ahead of print]
Holzerova E, Danhauser K, Haack TB, Kremer LS, Melcher M, Ingold I, Kobayashi S, Terrile C, Wolf P, Schaper J, Mayatepek E, Baertling F, Friedmann Angeli JP, Conrad M, Strom TM, Meitinger T, Prokisch H, Distelmaier F - 1. JANUAR 2016
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
J Inherit Metab Dis. 2016 Jan. [Epub ahead of print]
Staufner C, Haack TB, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Ozolek JA, Zschocke J, Kuster A, Dick A, Das AM, Wieland T, Terrile C, Strom TM, Meitinger T, Prokisch H, Hoffmann GF. - 15. JULI 2015
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies
Am J Hum Genet. 2015 Jul 15. pii: S0002-9297(15)00247-5. [Epub ahead of print]
Powell CA, Kopajtich R, D’Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M. - 17. JUNI 2015
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9
Eur J Hum Genet. 2015 Jun 17. [Epub ahead of print]
Danhauser K, Herebian D, Haack TB, Rodenburg RJ, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F. - 9. JUNI 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
Am J Hum Genet. 2015 Jun 9. pii: S0002-9297(15)00195-0. [Epub ahead of print]
Haack TB, Staufner C, Kopke MG, Straub BK, Kolker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kuhr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H. - 1. JUNI 2015
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency
Hum Mol Genet. 2015 Jun 1;24(11):3238-47. Epub 2015 Feb 26.
Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Haberle J, Munnich A, Rotig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J. - 1. MAI 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
Ann Clin Transl Neurol. 2015 May;2(5):492-509.
Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer JM, Kolker S, Prokisch H, Klopstock T. - 15. APRIL 2015
Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy
European Journal of Human Genetics 23 (2015) 1735-8. >>Journal-Link<<
Lehmann D, Schubert K, Joshi PR, Hardy S, Tuppen HAL, Baty K, Blakely EL, Bamberg C, Zierz S, Deschauer M, Taylor RW. - 15. APRIL 2015
MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention
Hum Mol Genet. 2015 Apr 15;24(8):2247-66. Epub 2014 Dec 30.
Tischner C, Hofer A, Wulff V, Stepek J, Dumitru I, Becker L, Haack T, Kremer L, Datta AN, Sperl W, Floss T, Wurst W, Chrzanowska-Lightowlers Z, De Angelis MH, Klopstock T, Prokisch H, Wenz T. - 14. APRIL 2015
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
J Inherit Metab Dis. 2015 Apr 14. [Epub ahead of print]
Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Burgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R. - 13. APRIL 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
Front Genet 2015 Apr;6:123. eCollection 2015.
Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB. - 2. APRIL 2015
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
Orphanet J Rare Dis. 2015 Apr 2;10:40.
Koch J, Freisinger P, Feichtinger RG, Zimmermann FA, Rauscher C, Wagentristl HP, Konstantopoulou V, Seidl R, Haack TB, Prokisch H, Ahting U, Sperl W, Mayr JA, Maier EM. - 24. MÄRZ 2015
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy
Neurogenetics. 2015 Mar 24. [Epub ahead of print]
Distelmaier F, Haack TB, Catarino CB, Gallenmuller C, Rodenburg RJ, Strom TM, Baertling F, Meitinger T, Mayatepek E, Prokisch H, Klopstock T. - 10. FEBRUAR 2015
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities Neurogenetics. 2015 Feb. [Epub ahead of print]
Baertling F, Haack TB, Rodenburg RJ, Schaper J, Seibt A, Strom TM, Meitinger T, Mayatepek E, Hadzik B, Selcan G, Prokisch H, Distelmaier F. - 5. FEBRUAR 2015
COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency
Am J Hum Genet. 2015 Feb 5.
Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D - 15. JANUAR 2015
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
Am J Hum Genet. 2015 Feb 5;96(2):245-57. Epub 2015 Jan 15.
Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. - 15. DEZEMBER 2014
MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy
PLoS One. 2014 Dec 15;9(12):e114918. eCollection 2014.
Becker L, Kling E, Schiller E, Zeh R, Schrewe A, Holter SM, Mossbrugger I, Calzada-Wack J, Strecker V, Wittig I, Dumitru I, Wenz T, Bender A, Aichler M, Janik D, Neff F, Walch A, Quintanilla-Fend L, Floss T, Bekeredjian R, Gailus-Durner V, Fuchs H, Wurst W, Meitinger T, Prokisch H, de Angelis MH, Klopstock T. - DEZEMBER 2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
Am J Hum Genet. 2014 Dec 4;95(6):708-20.
Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H – Paper of the month December 2014 (Research for Rare) - 20. NOVEMBER 2014
Post-translational modification of mitochondria as a novel mode of regulation
Exp Gerontol 2014.
Hofer A, Wenz T. - 20. NOVEMBER 2014
Mitochondrial abnormalities in myofibrillar myopathies
Clin Neuropathol 2014; 33:134-142.
Joshi PR, Hauburger A, Kley R, Claeys KG, Schneider I, Kress W, Stoltenburg G, Weis J, Vorgerd M, Deschauer M, Hanisch F. - 23. OKTOBER 2014
Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients
Orphanet J Rare Dis. 2014 Oct 23;9(1):158.
Dimitriadis K, Leonhardt M, Yu-Wai-Man P, Kirkman M, Korsten A, De Coo IF, Chinnery P, Klopstock T. - 8. OKTOBER 2014
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency
Eur J Hum Genet. 2014 Oct 8. [Epub ahead of print]
Oláhová M, Haack TB, Alston CL, Houghton JA, He L, Morris AA, Brown GK, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Prokisch H, Taylor RW. - 8. OKTOBER 2014
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency
Eur J Hum Genet. 2014 Oct 8. [Epub ahead of print]
Oláhová M, Haack TB, Alston CL, Houghton JA, He L, Morris AA, Brown GK, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Prokisch H, Taylor RW - 28. SEPTEMBER 2014
A novel m.7539C>T point mutation in the mt-tRNAAspgene associated with multisystemic mitochondrial disease
Neuromuscular Disorders 25 (2015) 81-4. >>Pub-Med-Link<<
Lehmann D, Schubert K, Joshi PR, Baty K, Blakely EL, Zierz S, Taylor RW, Deschauer M. - 18. SEPTEMBER 2014
Glucose substit. prolongs maintenance of energy homeostasis and lifespan of telomere dysfunctional mice
Nat Commun 2014; 5:4924.
Missios P, Zhou Y, Guachalla LM, von Figura G, Wegner A, Chakkarappan SR, Binz T, Gompf A, Hartleben G, Burkhalter MD, Wulff V, Gunes C, Sattler RW, Song Z, Illig T, Klaus S, Bohm BO, Wenz T, Hiller K, Rudolph KL. - 12. SEPTEMBER 2014
The ubiquitin-selective chaperone Cdc48/p97 associates with Ubx3 to modulate monoubiquitylation of histone H2B
Nucleic Acids Res 2014; 42:10975-10986.
Bonizec M, Herissant L, Pokrzywa W, Geng F, Wenzel S, Howard GC, Rodriguez P, Krause S, Tansey WP, Hoppe T, Dargemont C. - 5. SEPTEMBER 2014
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration Acta Neuropathol. 2014 Sep;128(3):397-410. Epub 2014 Jun 5.
van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Matej R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, Mattheijssens M, Peeters K, Benussi L, Binetti G, Ghidoni R, Borroni B, Padovani A, Archetti S, Pastor P, Razquin C, Ortega-Cubero S, Hernandez I, Boada M, Ruiz A, de Mendonca A, Miltenberger-Miltenyi G, do Couto FS, Sorbi S, Nacmias B, Bagnoli S, Graff C, Chiang HH, Thonberg H, Perneczky R, Diehl-Schmid J, Alexopoulos P, Frisoni GB, Bonvicini C, Synofzik M, Maetzler W, vom Hagen JM, Schols L, Haack TB, Strom TM, Prokisch H, Dols-Icardo O, Clarimon J, Lleo A, Santana I, Almeida MR, Santiago B, Heneka MT, Jessen F, Ramirez A, Sanchez-Valle R, Llado A, Gelpi E, Sarafov S, Tournev I, Jordanova A, Parobkova E, Fabrizi GM, Testi S, Salmon E, Strobel T, Santens P, Robberecht W, De Jonghe P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Sleegers K, Van Broeckhoven C. - 4. SEPTEMBER 2014
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency
Am J Hum Genet 2014; 95:315-325.
Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M. - 20. AUGUST 2014
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
Orphanet J Rare Dis. 2014 Aug 20;9:119.
Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H. - 1. AUGUST 2014
Mitochondrial protein acetylation mediates nutrient sensing of mitochondrial protein synthesis and mitonuclear protein balance.
IUBMB Life 2014.
Di Domenico A, Hofer A, Tundo F, Wenz T. - 1. JUNI 2014
ND3, ND1 and 39kDa subunits are more exposed in the de-active form of bovine mitochondrial complex I.
Biochim Biophys Acta. 2014;1837(6):929-39.
Babot M, Labarbuta P, Birch A, Kee S, Fuszard M, Botting CH, Wittig I, Heide H, Galkin A. - 30. MAI 2014
Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease
Brain. 2014 Sep;137(Pt 9):e295. Epub 2014 May 30.
Haack TB, Klee D, Strom TM, Mayatepek E, Meitinger T, Prokisch H, Distelmaier F. - 14. MAI 2014
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies
Hum Mutat. 2014.
Diodato D, Melchionda L, Haack T, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D. - 7. MAI 2014
Novel (ovario) leukodystrophy related to AARS2 mutations
Neurology. 2014.
Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS. - 1. MAI 2014
Defining the action spectrum of potential PGC-1alpha activators on a mitochondrial and cellular level in vivo
Hum Mol Genet. 2014 May 1;23(9):2400-15.
Hofer A, Noe N, Tischner C, Kladt N, Lellek V, Schauss A, Wenz T. - 17. APRIL 2014
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy
JIMD Rep. 2014 Apr 17. [Epub ahead of print]
Diodato D, Invernizzi F, Lamantea E, Fagiolari G, Parini R, Menni F, Parenti G, Bollani L, Pasquini E, Donati MA, Cassandrini D, Santorelli FM, Haack TB, Prokisch H, Ghezzi D, Lamperti C, Zeviani M. - 1. APRIL 2014
MutationTaster2: mutation prediction for the deep-sequencing age
Nat Methods. 2014;11(4):361-2.Schwarz JM, Cooper DN, Schuelke M, Seelow D.
Paper of the month April 2014 (Research for Rare) - 1. MÄRZ 2014
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency
J Med Genet.2014 Mar;51(3):170-5.
Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Haberli A, Gallati S, Schaller A. - 1. MÄRZ 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening
Mol Genet Metab. 2014;111(3):342-52.
Haack TB, Gorza M, Danhauser K, Mayr JA, Haberberger B, Wieland T, Kremer L, Strecker V, Graf E, Memari Y, Ahting U, Kopajtich R, Wortmann SB, Rodenburg RJ, Kotzaeridou U, Hoffmann GF, Sperl W, Wittig I, Wilichowski E, Schottmann G, Schuelke M, Plecko B, Stephani U, Strom TM, Meitinger T, Prokisch H, Freisinger P. - 1. MÄRZ 2014
Leber’s Hereditary Optic Neuropathy – Phenotype, Genetics, Therapeutic Options
Klin Monbl Augenheilkd. 2014;231(3):216-21.
Gallenmüller C,Klopstock T - 1. MÄRZ 2014
Mitochondrial membrane assembly of TMEM70 protein
Mitochondrion.2014 Mar;15:1-9.
Kratochvilova H, Hejzlarova K, Vrbacky M, Mracek T, Karbanova V, Tesarova M, Gombitova A, Cmarko D, Wittig I, Zeman J, Houstek J. - 1. JANUAR 2014
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation
Journal of neurology. 2013.
Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zuhlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nurnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C. - 1. JANUAR 2014
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation
J Neurol. 2014 Jan;261(1):207-12. doi: 10.1007/s00415-013-7177-7. Epub 2013 Nov 8.
Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zuhlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nurnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C. - 1. JANUAR 2014
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
Brain.2014 Jan;137(Pt 1):69-77.
Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schöls L, Lima-Martinez MM, Farooq A, Schule R, Stevanin G, Marques W, Jr., Zuchner S. - 15. DEZEMBER 2013
Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors
Hum Mol Genet.2013 Dec 15;22(24):4871-87.
Gispert S, Parganlija D, Klinkenberg M, Drose S, Wittig I, Mittelbronn M, Grzmil P, Koob S, Hamann A, Walter M, Buchel F, Adler T, Hrabe de Angelis M, Busch DH, Zell A, Reichert AS, Brandt U, Osiewacz HD, Jendrach M, Auburger G. - 2. DEZEMBER 2013
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
J Clin Invest.2013 Dec 2;123(12):5179-89.
Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschke P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Bockenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F. - 1. DEZEMBER 2013
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network
J Med Genet.2013 Dec;50(12):848-58.
Grau T, Burbulla LF, Engl G, Delettre C, Delprat B, Oexle K, Leo-Kottler B, Roscioli T, Kruger R, Rapaport D, Wissinger B, Schimpf-Linzenbold S. - 7. NOVEMBER 2013
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4
American journal of human genetics. 2013;93(5):906-14.
Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE, Jr., Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, DiMauro S, Paw BH. - 1. NOVEMBER 2013
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast
Human mutation. 2013;34(11):1501-9.
Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D. - 8. OKTOBER 2013
Age-related changes in the mitochondrial proteome of the fungus Podospora anserina analyzed by 2D-DIGE and LC-MS/MS
J Proteomics.2013 Oct 8;91:358-74.
Chimi MA, Drose S, Wittig I, Heide H, Steger M, Werner A, Hamann A, Osiewacz HD, Brandt U. - 1. OKTOBER 2013
Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series
Journal of neurology. 2013;260(10):2556-61.
Strupp M, Teufel J, Habs M, Feuerecker R, Muth C, van de Warrenburg BP, Klopstock T, Feil K. - 1. OKTOBER 2013
Methods to analyse composition and dynamics of macromolecular complexes
Biochem Soc Trans.2013 Oct;41(5):1235-41.
Heide H, Wittig I. - 5. SEPTEMBER 2013
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy
Am J Hum Genet.2013 Sep 5;93(3):482-95.
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M. - 1. AUGUST 2013
Accumulation of mitochondrial DNA deletions within dopaminergic neurons triggers neuroprotective mechanisms
Brain.2013 Aug;136(Pt 8):2369-78.
Perier C, Bender A, Garcia-Arumi E, Melia MJ, Bove J, Laub C, Klopstock T, Elstner M, Mounsey RB, Teismann P, Prolla T, Andreu AL, Vila M. - 1. AUGUST 2013
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression
Hum Mutat. 2013.
Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Gregorio ED, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. - 30. JULI 2013
ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy
Am J Hum Genet. 2013 Jul 9.
Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H.
Paper of the month July 2013 (Research for Rare) - 22. JULI 2013
Flow cytometry for the analysis of alpha-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies
PLoS One.2013 Jul 22;8(7):e68958.
Stevens E, Torelli S, Feng L, Phadke R, Walter MC, Schneiderat P, Eddaoudi A, Sewry CA, Muntoni F. - 2. JULI 2013
New treatments for mitochondrial disease-no time to drop our standards
Nat Rev Neurol. 2013 Jul 2.
Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF - 1. JUNI 2013
beta-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
Brain: a journal of neurology. 2013;136(Pt 6):1708-17.
Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Heron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P. - 6. APRIL 2013
Lewy body pathology is associated with mitochondrial DNA damage in Parkinson’s disease
Neurobiol Aging. 2013 Sep;34(9):2231-3. Epub 2013 Apr 6.
Muller SK, Bender A, Laub C, Hogen T, Schlaudraff F, Liss B, Klopstock T, Elstner M - 1. MÄRZ 2013
Effects of idebenone on color vision in patients with leber hereditary optic neuropathy
J Neuroophthalmol. 2013 Mar;33(1):30-6.
Rudolph G, Dimitriadis K, Buchner B, Heck S, Al-Tamami J, Seidensticker F, Rummey C, Leinonen M, Meier T, Klopstock T - 1. FEBRUAR 2013
Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion
Acta Neuropathol. 2013 Feb;125(2):245-56.
Vielhaber S, Debska-Vielhaber G, Peeva V, Schoeler S, Kudin AP, Minin I, Schreiber S, Dengler R, Kollewe K, Zuschratter W, Kornblum C, Zsurka G, Kunz WS. - 1. FEBRUAR 2013
Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation
Movement disorders : official journal of the Movement Disorder Society. 2013;28(2):224-7.
Schulte EC, Claussen MC, Jochim A,Haack T,Hartig M,Hempel M,Prokisch H, Haun-Junger U, Winkelmann J, Hemmer B, Forschler A, Ilg R. - 1. FEBRUAR 2013
Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy
Brain. 2013 Feb;136(Pt 2):e230. Epub 2013 Feb 6.
Klopstock T, Metz G, Yu-Wai-Man P, Buchner B, Gallenmuller C, Bailie M, Nwali N, Griffiths PG, von Livonius B, Reznicek L, Rouleau J, Coppard N, Meier T, Chinnery PF: Brain 2013, 136:e230 - 13. JANUAR 2013
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
H. Nat Genet. 2013 Jan 13. [Epub ahead of print]
Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, Dimauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch - 1. JANUAR 2013
APOOL is a cardiolipin-binding constituent of the Mitofilin/MINOS protein complex determining cristae morphology in mammalian mitochondria
PLoS One. 2013;8(5):e63683.
Weber TA, Koob S, Heide H, Wittig I, Head B, van der Bliek A, Brandt U, Mittelbronn M, Reichert AS. - 1. JANUAR 2013
miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors
Orphanet J Rare Dis. 2013;8:55.
Harafuji N,Schneiderat P, Walter MC, Chen YW. - 1. JANUAR 2013
Quantification of protein complexes by blue native electrophoresis
Methods in molecular biology. 2013;1033:363-79.
Heidler J, Strecker V, Csintalan F, Bleier L, Wittig I. - 1. JANUAR 2013
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings
J Inherit Metab Dis. 2013 Jan;36(1):55-62.
Haack TB, Rolinski B, Haberberger B, Zimmermann F, Schum J, Strecker V, Graf E, Athing U, Hoppen T, Wittig I, Sperl W, Freisinger P, Mayr JA, Strom TM, Meitinger T, Prokisch H. - 1. JANUAR 2013
Quantitative and qualitative 2D electrophoretic analysis of differentially expressed mitochondrial proteins from five mouse organs
Proteomics. 2013 Jan;13(1):179-95.
Techritz S, Lutzkendorf S, Bazant E, Becker S, Klose J, Schuelke M. - 1. DEZEMBER 2012
What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?
Brain. 2012 Dec;135(Pt 12):3614-26.
Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombes A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmuller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R: - 1. APRIL 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
J Med Genet. 2012 Apr;49(4):277-83.
Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H: - 21. DEZEMBER 2011
Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions
Mol Brain. 2011 Dec 21;4:43.
Elstner M, Muller SK, Leidolt L, Laub C, Krieg L, Schlaudraff F, Liss B, Morris C, Turnbull DM, Masliah E, Prokisch H, Klopstock T, Bender Á - 7. OKTOBER 2011
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation
Am J Hum Genet. 2011 Oct 7;89(4):543-50.
Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H - 25. JULI 2011
A randomized placebocontrolled trial of idebenone in Leber’s hereditary optic neuropathy
Brain. 2011 Sep;134(Pt 9):2677-86. Epub 2011 Jul 25.
Klopstock T, Yu-Wai-Man P, Dimitriadis K, Rouleau J, Heck S, Bailie M, Atawan A, Chattopadhyay S, Schubert M, Garip A, Kernt M, Petraki D, Rummey C, Leinonen M, Metz G, Griffiths PG, Meier T, Chinnery PF - 1. JULI 2011
Expression analysis of dopaminergic neurons in Parkinson’s disease and aging links transcriptional dysregulation of energy metabolism to cell death.
Acta Neuropathol. 2011 Jul;122(1):75-86. Epub 2011 May 4.
Elstner M, Morris CM, Heim K, Bender A, Mehta D, Jaros E, Klopstock T, Meitinger T, Turnbull DM, Prokisch H - 1. JULI 2011
Whole blood genome-wide expression profiling and network analysis suggest MELAS master regulators.
Neurol Res. 2011 Jul;33(6):638-55.
Mende S, Royer L, Herr A, Schmiedel J, Deschauer M, Klopstock T, Kostic VS, Schroeder M, Reichmann H, Storch A - 1. MÄRZ 2011
POLG mutations causedecreased mitochondrial DNA repopulation rates following induced depletion inhuman fibroblasts
Biochim Biophys Acta 2011;1812:321-325.
Stewart JD, Schoeler S, Sitarz KS, Horvath R, Hallmann K, Pyle A, Yu-Wai-Man P, Taylor RW, Samuels DC, Kunz WS, Chinnery PF. - 1. JANUAR 2011
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing
Nucleic Acids Res. 2011 Jan;39(1):44-58. Epub 2010 Sep 15.
Wang W, Shen P, Thiyagarajan S, Lin S, Palm C, Horvath R, Klopstock T, Cutler D, Pique L, Schrijver I, Davis RW, Mindrinos M, Speed TP, Scharfe C. - 1. JANUAR 2011
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
Brain 2011;134:210-219. Gerards M, van den Bosch BJ, Danhauser K, Serre V, van Weeghel M, Wanders
RJ, Nicolaes GA, Sluiter W, Schoonderwoerd K, Scholte HR, Prokisch H, Rotig
A, de Coo IF, Smeets HJ. - 1. JANUAR 2011
NOA1 is an essential GTPase required for mitochondrial protein synthesis
Mol Biol Cell 2011;22:1-11.
Kolanczyk M, Pech M, Zemojtel T, Yamamoto H, Mikula I, Calvaruso MA, van den Brand M, Richter R, Fischer B, Ritz A, Kossler N, Thurisch B, Spoerle R, Smeitink J, Kornak U, Chan D, Vingron M, Martasek P, Lightowlers RN, Nijtmans L, Schuelke M, Nierhaus KH, Mundlos S.
