Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission-Reference-Cited by-同舟云学术

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission

Published:2017-09-23 Issue:10 Volume:140 Page:2586-2596
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Gerber Sylvie¹,Charif Majida²,Chevrollier Arnaud²,Chaumette Tanguy²,Angebault Claire³,Kane Mariame Selma²,Paris Aurélien²,Alban Jennifer²,Quiles Mélanie³,Delettre Cécile³,Bonneau Dominique²,Procaccio Vincent²,Amati-Bonneau Patrizia²,Reynier Pascal²,Leruez Stéphanie²,Calmon Raphael⁴,Boddaert Nathalie⁵,Funalot Benoit⁵,Rio Marlène⁵,Bouccara Didier⁶,Meunier Isabelle³,Sesaki Hiromi⁷,Kaplan Josseline¹,Hamel Christian P³,Rozet Jean-Michel¹,Lenaers Guy²

Affiliation:

1. Laboratory of Genetics in Ophthalmology, INSERM UMR1163, Imagine - Institute of Genetic Diseases, Paris Descartes University, 75015 Paris, France

2. MitoLab, Mitochondrial Medicine Research Centre, UMR CNRS 6015-INSERM 1083, Institut MitoVasc, University of Angers, 49933 Angers, France

3. Institut des Neurosciences de Montpellier, INSERM U1051, Université de Montpellier, France

4. Department of Pediatric Neurology, IHU Necker Enfants Malades and Image at Imagine, INSERM UMR1163, Imagine – Institute of Genetic Diseases, Paris Descartes University, 75015 Paris, France

5. Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, 75015 Paris, France; Department of Genetics, GHU Henri Mondor, 94010 Créteil, France

6. Service d'ORL, Hôpital Universitaire Pitié-Salpêtrière, 75013 Paris, France

7. Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/140/10/2586/24179159/awx219.pdf

Reference34 articles.

1. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28;Alexander;Nat Genet,2000

2. Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability;Angebault;Hum Mol Genet,2015

3. Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies;Angebault;Am J Hum Genet,2015