Article
Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function.
The Journal of biological chemistry - 21 Jul 2006
Bryan Keith E, Wen Kuo-Kuang, Zhu Mei, Rendtorff Nanna Dahl, Feldkamp Michael, Tranebjaerg Lisbeth, Friderici Karen H, Rubenstein Peter A
Abstract excerpt
Six point mutations in non-muscle gamma-actin at the DFNA20/26 locus cause autosomal dominant nonsyndromic hearing loss. The molecular basis for the hearing loss is unknown. We have engineered each gamma-actin mutation into yeast actin to investigate the effects of these mutations on actin function in vivo and in vitro. Cells expressing each of the mutant actins as the sole actin in the cell were viable. Four of...
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