Article
SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice.
PLoS genetics - 1 Jan 2013
Li Xiangming, Sanneman Joel D, Harbidge Donald G, Zhou Fei, Ito Taku, Nelson Raoul, Picard Nicolas, Chambrey Régine, Eladari Dominique, Miesner Tracy, Griffith Andrew J, Marcus Daniel C, Wangemann Philine
Abstract excerpt
Mutations of SLC26A4 are a common cause of human hearing loss associated with enlargement of the vestibular aqueduct. SLC26A4 encodes pendrin, an anion exchanger expressed in a variety of epithelial cells in the cochlea, the vestibular labyrinth and the endolymphatic sac. Slc26a4 (Δ/Δ) mice are devoid of pendrin and develop a severe enlargement of the membranous labyrinth, fail to acquire hearing and balance, and...
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