Article
Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 15 Jul 2015
Gopal Suhasini R, Chen Daniel H-C, Chou Shih-Wei, Zang Jingjing, Neuhauss Stephan C F, Stepanyan Ruben, McDermott Brian M, Alagramam Kumar N
Abstract excerpt
Usher syndrome type III (USH3) is characterized by progressive loss of hearing and vision, and varying degrees of vestibular dysfunction. It is caused by mutations that affect the human clarin-1 protein (hCLRN1), a member of the tetraspanin protein family. The missense mutation CLRN1(N48K), which affects a conserved N-glycosylation site in hCLRN1, is a common causative USH3 mutation among Ashkenazi Jews. The...
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