Ontology highlight
ABSTRACT:
SUBMITTER: Sasaki Y
PROVIDER: S-EPMC7591247 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Sasaki Yo Y Kakita Hiroki H Kubota Shunsuke S Sene Abdoulaye A Lee Tae Jun TJ Ban Norimitsu N Dong Zhenyu Z Lin Joseph B JB Boye Sanford L SL DiAntonio Aaron A Boye Shannon E SE Apte Rajendra S RS Milbrandt Jeffrey J
eLife 20201027
Leber congenital amaurosis type nine is an autosomal recessive retinopathy caused by mutations of the NAD<sup>+</sup> 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 vulnerability of these cells to NMNAT1 loss. Conditional deletion demonstrates th ...[more]