The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6

Biallelic mutations in the photoreceptor-expressed aryl hydrocarbon receptor interacting protein-like 1 (AIPL1) are associated with autosomal recessive Leber congenital amaurosis (LCA), the most severe form of inherited retinopathy in early childhood. AIPL1 functions as a photoreceptor-specific co-c...

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Bibliografiske detaljer
Udgivet i:Hum Mol Genet
Main Authors: Sacristan-Reviriego, Almudena, Bellingham, James, Prodromou, Chrisostomos, Boehm, Annika N, Aichem, Annette, Kumaran, Neruban, Bainbridge, James, Michaelides, Michel, van der Spuy, Jacqueline
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2017
Fag:
Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886190/
https://ncbi.nlm.nih.gov/pubmed/28973376
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx334
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