Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants

Leber congenital amaurosis 9 (LCA9) is an autosomal recessive retinal degeneration condition caused by mutations in the NAD(+) biosynthetic enzyme NMNAT1. This condition leads to early blindness but no other consistent deficits have been reported in patients with NMNAT1 mutations despite its central...

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Udgivet i:J Biol Chem
Main Authors: Sasaki, Yo, Margolin, Zachary, Borgo, Benjamin, Havranek, James J., Milbrandt, Jeffrey
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Biochemistry and Molecular Biology 2015
Fag:
Neurobiology
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4498062/
https://ncbi.nlm.nih.gov/pubmed/26018082
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M115.637850
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