SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration

Leber congenital amaurosis type nine is an autosomal recessive retinopathy caused by mutations of the NAD(+) synthesis enzyme NMNAT1. Despite the ubiquitous expression of NMNAT1, patients do not manifest pathologies other than retinal degeneration. Here we demonstrate that widespread NMNAT1 depletio...

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Detalhes bibliográficos
Publicado no:eLife
Main Authors: Sasaki, Yo, Kakita, Hiroki, Kubota, Shunsuke, Sene, Abdoulaye, Lee, Tae Jun, Ban, Norimitsu, Dong, Zhenyu, Lin, Joseph B, Boye, Sanford L, DiAntonio, Aaron, Boye, Shannon E, Apte, Rajendra S, Milbrandt, Jeffrey
Formato: Artigo
Idioma:Inglês
Publicado em: eLife Sciences Publications, Ltd 2020
Assuntos:
Neuroscience
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7591247/
https://ncbi.nlm.nih.gov/pubmed/33107823
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.62027
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