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Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice
Author(s) -
Juan Manuel Chao de la Barca,
Gilles Simard,
Emmanuelle Sarzi,
Tanguy Chaumette,
Guillaume Rousseau,
Stéphanie Chupin,
Cédric Gadras,
Lydie Tessier,
Marc Ferré,
Arnaud Chevrollier,
Valérie DesquiretDumas,
Naïg Guéguen,
Stéphanie Leruez,
Christophe Verny,
Dan Miléa,
Dominique Bonneau,
Patrizia AmatiBonneau,
Vincent Procaccio,
Christian Hamel,
Guy Lenaers,
Pascal Reynier,
Delphine PrunierMirebeau
Publication year - 2017
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.16-21116
Subject(s) - optic nerve , carnosine , atrophy , medicine , endocrinology , optic neuropathy , biology , retina , retinal ganglion cell , pathology , chemistry , anatomy , neuroscience
Dominant optic atrophy (MIM No. 165500) is a blinding condition related to mutations in OPA1, a gene encoding a large GTPase involved in mitochondrial inner membrane dynamics. Although several mouse models mimicking the disease have been developed, the pathophysiological mechanisms responsible for retinal ganglion cell degeneration remain poorly understood.

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