OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

Neurobiology of Disease

Volumn 90, Issue , 2016, Pages 20-26

  Chao de la Barca, Juan Manuel ^a,b   Prunier Mirebeau, Delphine ^a,b   Amati Bonneau, Patrizia ^a,b   Ferré, Marc ^b   Sarzi, Emmanuelle ^c   Bris, Céline ^a,b   Leruez, Stéphanie ^a   Chevrollier, Arnaud ^b   Desquiret Dumas, Valérie ^a,b   Gueguen, Naïg ^a,b   Verny, Christophe ^a,b   Hamel, Christian ^c,d   Miléa, Dan ^a,b,e   Procaccio, Vincent ^a,b   Bonneau, Dominique ^a,b   Lenaers, Guy ^b   Reynier, Pascal ^a,b  

^a ANGERS UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ D'ANGERS   (France)

^c Montpellier University Medical Center   (France)

^d MONTPELLIER UNIVERSITY HOSPITAL   (France)

^e SINGAPORE EYE RESEARCH INSTITUTE   (Singapore)

Author keywords

Mitochondria; Mitochondrial dynamics; OPA1; Optic neuropathy; Oxidative phosphorylation; Retinal ganglion cells

Indexed keywords

MESSENGER RNA; MITOCHONDRIAL DNA; REACTIVE OXYGEN METABOLITE; GUANOSINE TRIPHOSPHATASE;

ARTICLE; AUTONOMIC NERVOUS SYSTEM; CELL SURVIVAL; CELLULAR PARAMETERS; CENTRAL NERVOUS SYSTEM; CLINICAL FEATURE; DENDRITOGENESIS; DISEASE SEVERITY; FRAMESHIFT MUTATION; GENE; GENE OVEREXPRESSION; GENETIC COUNSELING; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; INHERITANCE; MISSENSE MUTATION; MITOCHONDRIAL DYNAMICS; MITOCHONDRIAL STRUCTURE; MUTATIONAL ANALYSIS; NERVE CELL DIFFERENTIATION; NERVE DEGENERATION; NERVE FIBER TRANSPORT; NEUROPATHOLOGY; NONHUMAN; NONSENSE MUTATION; ONSET AGE; OPA1 GENE; OPA1 RELATED DISORDER; OPTIC NERVE ATROPHY; PERIPHERAL NERVOUS SYSTEM; PRIORITY JOURNAL; SOMATIC MUTATION; SYMPTOM; ANIMAL; AUTOSOMAL DOMINANT OPTIC ATROPHY; GENETICS; METABOLISM; PATHOPHYSIOLOGY;

ANIMALS; GTP PHOSPHOHYDROLASES; HUMANS; OPTIC ATROPHY, AUTOSOMAL DOMINANT;

EID: 84940061473     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2015.08.015     Document Type: Article

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