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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...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Gopal, Suhasini R., Lee, Yvonne T., Stepanyan, Ruben, McDermott, Brian M., Alagramam, Kumar N.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2019
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Acesso em linha: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
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