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