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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Pubblicato in:PLoS One
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2017
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Research Article
Accesso online: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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