CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model

A single amino acid mutation near the active site of the CAPN5 protease was linked to the inherited blinding disorder, autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV, OMIM #193235). In homology modeling with other calpains, this R243L CAPN5 mutation was situated in a mobile loo...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Wert, Katherine J., Bassuk, Alexander G., Wu, Wen-Hsuan, Gakhar, Lokesh, Coglan, Diana, Mahajan, MaryAnn, Wu, Shu, Yang, Jing, Lin, Chyuan-Sheng, Tsang, Stephen H., Mahajan, Vinit B.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4512628/
https://ncbi.nlm.nih.gov/pubmed/25994508
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv189
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