Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
Robert Kopajtich(Helmholtz Zentrum München), Michal Minczuk(University of Cambridge), Sarah F. Pearce(MRC Mitochondrial Biology Unit), Metodi D. Metodiev(Inserm), Tobias B. Haack(Technical University of Munich), Patrick F. Chinnery(Freeman Hospital), Yoshimi Tokuzawa(Saitama Medical University), Zahra Assouline(Hôpital Necker-Enfants Malades), Klaus Marquard(Olgahospital), Agnès Rötig, Thomas Klopstock(Ludwig-Maximilians-Universität München), Akira Ohtake(Saitama Medical University), Ellen Crushell(Temple Street Children's University Hospital), Arnold Münnich(Hôpital Necker-Enfants Malades), Rosalba Carrozzo(Bambino Gesù Children's Hospital), Yoshihito Kishita(Saitama Medical University), Christopher A. Powell(MRC Mitochondrial Biology Unit), Federica Invernizzi(Istituti di Ricovero e Cura a Carattere Scientifico), Ann Saada(Jerusalem College of Technology), Marlène Rio(Hôpital Necker-Enfants Malades), Angela Pyle(Wellcome Centre for Mitochondrial Research), Thomas Schwarzmayr(Helmholtz Zentrum München), Dominique Chrétien(Délégation Paris 5), Masakazu Kohda(Saitama Medical University), Massimo Zeviani(MRC Mitochondrial Biology Unit), Ewen W. Sommerville(Wellcome Centre for Mitochondrial Research), Eleonora Lamantea(Istituti di Ricovero e Cura a Carattere Scientifico), Arnaud Vanlander(Ghent University Hospital), Björn Menten(Ghent University Hospital), Enrico Bertini(Bambino Gesù Children's Hospital), Peter Freisinger(TUM Klinikum), Joél Smet(Ghent University Hospital), Thomas J. Nicholls(Wellcome Centre for Mitochondrial Research), Thomas Wieland(Eppendorf (Germany)), Joanna Rorbach(Karolinska Institutet), Yasushi Okazaki(Saitama Medical University), Daniele Ghezzi(University of Milan), Johannes A. Mayr(Paracelsus Medical University), Rudy Van Coster, François Feillet(Hôpital d'Enfants), Kei Murayama(Chiba Hospital), Tim M. Strom(Technical University of Munich), Tom Sante(Ghent University Hospital), Robert W. Taylor(Wellcome Centre for Mitochondrial Research), Hanna Mandel(Rambam Health Care Campus), Abraham Lorber(Haifa Medical Center), Thomas Meitinger(Ludwig-Maximilians-Universität München), Asaad Khoury(Haifa Medical Center), Luc Régal(KU Leuven)
Cited by 157
Related Papers
Mitochondrial diseases
|Nature Reviews Disease Primers|2016|1.5k
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets
|Nature Genetics|1995|1.1k
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
|Nature Genetics|2001|819
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
|Nature Neuroscience|2015|782
Genome-wide, large-scale production of mutant mice by ENU mutagenesis
|Nature Genetics|2000|675