Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a Rho(D190N) mutation

D190N, a missense mutation in rhodopsin, causes photoreceptor degeneration in patients with autosomal dominant retinitis pigmentosa (adRP). Two competing hypotheses have been developed to explain why D190N rod photoreceptors degenerate: (a) defective rhodopsin trafficking prevents proteins from corr...

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Detalhes bibliográficos
Publicado no:Cell Mol Life Sci
Main Authors: Sancho-Pelluz, Javier, Cui, Xuan, Lee, Winston, Tsai, Yi-Ting, Wu, Wen-Hsuan, Justus, Sally, Washington, Ilyas, Hsu, Chun-Wei, Park, Karen Sophia, Koch, Susanne, Velez, Gabriel, Bassuk, Alexander G., Mahajan, Vinit B., Lin, Chyuan-Sheng, Tsang, Stephen H.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2019
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7144803/
https://ncbi.nlm.nih.gov/pubmed/30976840
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00018-019-03090-9
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