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A small molecule mitigates hearing loss in a mouse model of Usher syndrome III

from Nature Chemical Biology

Usher syndrome type III, characterized by progressive deafness, variable balance disorder and blindness, is caused by destabilizing mutations in the gene encoding the clarin-1 protein. Here we report a new strategy to mitigate hearing loss associated with a common USH3 mutation CLRN1N48K that involves cell-based high-throughput screening of small molecules capable of stabilizing CLRN1N48K, followed by a secondary screening to eliminate general proteasome inhibitors. more


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