Article
Variable Autoinhibition among Deafness-Associated Variants of Diaphanous 1 (DIAPH1).
Biochemistry - 27 Jul 2021
Lakha Rabina, Montero Angela M, Jabeen Tayyaba, Costeas Christina C, Ma Jia, Vizcarra Christina L
Abstract excerpt
One of the earliest mapped human deafness genes, DIAPH1, encodes the formin DIAPH1. To date, at least three distinct mutations in the C-terminal domains and two additional mutations in the N-terminal region are associated with autosomal dominant hearing loss. The underlying molecular mechanisms are not known, and the role of formins in the inner ear is not well understood. In this study, we use biochemical assays...
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