Variable autoinhibition among deafness-associated variants of Diaphanous 1 (DIAPH1)

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...

Topics

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• Actins
• Cell Line
• Formins
• Hearing Loss
• Models, Molecular
• Mutation
• Protein Folding
• Protein Stability

Identifiers and source

Literature Corpus work

16b7d778-f270-58ce-8355-e71cf9f705fc

DOI

10.1101/2021.03.10.434847