Constitutive activation of DIA1 (DIAPH1) via C‐terminal truncation causes human sensorineural hearing loss

Constitutive activation of DIA1 (DIAPH1) via C‐terminal truncation causes human sensorineural hearing loss

Abstract DIAPH1 encodes human DIA1, a formin protein that elongates unbranched actin. The c.3634+1G>T DIAPH1 mutation causes autosomal dominant nonsyndromic sensorineural hearing loss, DFNA1, characterized by progressive deafness starting in childhood. The mutation occurs near the C‐terminus of t...

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Main Authors: Takehiko Ueyama, Yuzuru Ninoyu, Shin‐ya Nishio, Takushi Miyoshi, Hiroko Torii, Koji Nishimura, Kazuma Sugahara, Hideaki Sakata, Dean Thumkeo, Hirofumi Sakaguchi, Naoki Watanabe, Shin‐ichi Usami, Naoaki Saito, Shin‐ichiro Kitajiri
Format: Article
Language:English
Published: Springer Nature 2016-10-01
Series:EMBO Molecular Medicine
Subjects:
actin
deafness
DIAPH1
DFNA1
stereocilia
Online Access:https://doi.org/10.15252/emmm.201606609
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