Articles with "abca4 variant" as a keyword



Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration

Sign Up to like & get
recommendations!
Published in 2018 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddx400

Abstract: ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) proteins that transports N-retinylidene-phosphatidylethanolamine (N-Ret-PE) across outer segment disc membranes thereby facilitating the removal of potentially toxic retinoid compounds from photoreceptor cells. Mutations in… read more here.

Keywords: asn965ser n965s; abca4 variant; localization functional; pathogenic mechanisms ... See more keywords