A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells

An unconventional myosin encoded by the myosin VI gene (MYO6) contributes to hearing loss in humans. Homozygous mutations of MYO6 result in nonsyndromic profound congenital hearing loss, DFNB37. Kumamoto shaker/waltzer (ksv) mice harbor spontaneous mutations, and homozygous mutants exhibit congenita...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Seki, Yuta, Miyasaka, Yuki, Suzuki, Sari, Wada, Kenta, Yasuda, Shumpei P., Matsuoka, Kunie, Ohshiba, Yasuhiro, Endo, Kentaro, Ishii, Rie, Shitara, Hiroshi, Kitajiri, Shin-ichiro, Nakagata, Naomi, Takebayashi, Hirohide, Kikkawa, Yoshiaki
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5568226/
https://ncbi.nlm.nih.gov/pubmed/28832620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0183477
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