Unconventional secretory pathway activation restores hair cell mechanotransduction in an USH3A model

The pathogenic variant c.144T>G (p.N48K) in the clarin1 gene (CLRN1) results in progressive loss of vision and hearing in Usher syndrome IIIA (USH3A) patients. CLRN1 is predicted to be an essential protein in hair bundles, the mechanosensory structure of hair cells critical for hearing and balanc...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Proc Natl Acad Sci U S A
Main Authors: Gopal, Suhasini R., Lee, Yvonne T., Stepanyan, Ruben, McDermott, Brian M., Alagramam, Kumar N.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2019
Fag:
PNAS Plus
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6561152/
https://ncbi.nlm.nih.gov/pubmed/31097578
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1817500116
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker