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Inherited dominant optic neuropathy: from clinical studies to gene function and back again

Smith, Terence Gordon and Votruba, Marcela 2013. Inherited dominant optic neuropathy: from clinical studies to gene function and back again. Drug Discovery Today: Disease Models 10 (4) , pp. 173-180. 10.1016/j.ddmod.2014.02.001

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Abstract

Here we review how clinically driven research into the basic cellular function of the major determinant in autosomal dominant optic atrophy, Kjer's type (OPA1), has in turn, facilitated and inspired potential therapeutic endeavours in murine models. Dominant optic atrophy is one of the most frequent causes of inherited optic neuropathy and affects up to 1 in 35 000. Its underlying pathophysiology gives us a remarkable insight into mitochondrial function and how this impacts on neuronal cell survival in the retina.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Optometry and Vision Sciences
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > RE Ophthalmology
Publisher: Elsevier
ISSN: 1740-6757
Funders: NERC
Last Modified: 04 Jun 2017 06:23
URI: http://orca.cf.ac.uk/id/eprint/59425

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