Article

SARM1 depletion rescues NMNAT1 dependent photoreceptor cell death and retinal degeneration

2020-05-01

Abstract excerpt

Leber congenital amaurosis type 9 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 depletion in adult mice mirrors the human pathology, with selective loss of photoreceptors highlighting the exquisite vulnerabil...

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Literature Corpus work: 4d985a3b-0ca0-5183-93eb-c4243cc22910
DOI: 10.1101/2020.04.30.069385

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