Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function

Retinoschisin, an octameric retinal-specific protein, is essential for retinal architecture with mutations causing X-linked retinoschisis (XLRS), a monogenic form of macular degeneration. Most XLRS-associated mutations cause intracellular retention, however a subset are secreted as octamers and the...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Ramsay, Ewan P., Collins, Richard F., Owens, Thomas W., Siebert, C. Alistair, Jones, Richard P.O., Wang, Tao, Roseman, Alan M., Baldock, Clair
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
Assuntos:
Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5418834/
https://ncbi.nlm.nih.gov/pubmed/27798099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw345
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados