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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Detalles Bibliográficos
Autores principales: Arden, Susan D., Tumbarello, David A., Butt, Tariq, Kendrick-Jones, John, Buss, Folma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2016
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5074368/
https://www.ncbi.nlm.nih.gov/pubmed/27474411
http://dx.doi.org/10.1042/BCJ20160571

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5074368/
https://www.ncbi.nlm.nih.gov/pubmed/27474411
http://dx.doi.org/10.1042/BCJ20160571

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