Ontology highlight
ABSTRACT:
SUBMITTER: Alagramam KN
PROVIDER: S-EPMC4871731 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Alagramam Kumar N KN Gopal Suhasini R SR Geng Ruishuang R Chen Daniel H-C DH Nemet Ina I Lee Richard R Tian Guilian G Miyagi Masaru M Malagu Karine F KF Lock Christopher J CJ Esmieu William R K WR Owens Andrew P AP Lindsay Nicola A NA Ouwehand Krista K Albertus Faywell F Fischer David F DF Bürli Roland W RW MacLeod Angus M AM Harte William E WE Palczewski Krzysztof K Imanishi Yoshikazu Y
Nature chemical biology 20160425 6
Usher syndrome type III (USH3), characterized by progressive deafness, variable balance disorder and blindness, is caused by destabilizing mutations in the gene encoding the clarin-1 (CLRN1) protein. Here we report a new strategy to mitigate hearing loss associated with a common USH3 mutation CLRN1(N48K) that involves cell-based high-throughput screening of small molecules capable of stabilizing CLRN1(N48K), followed by a secondary screening to eliminate general proteasome inhibitors, and finall ...[more]