Loss of cargo binding in the human myosin VI deafness mutant (R1166X) leads to increased actin filament binding

Mutations in myosin VI have been associated with autosomal-recessive (DFNB37) and autosomal-dominant (DFNA22) deafness in humans. Here, we characterise an myosin VI nonsense mutation (R1166X) that was identified in a family with hereditary hearing loss in Pakistan. This mutation leads to the deletio...

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Detaylı Bibliyografya
Yayımlandı:Biochem J
Asıl Yazarlar: Arden, Susan D., Tumbarello, David A., Butt, Tariq, Kendrick-Jones, John, Buss, Folma
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Portland Press Ltd. 2016
Konular:
Research Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5074368/
https://ncbi.nlm.nih.gov/pubmed/27474411
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BCJ20160571
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