Publications by authors named "Alder Robison"
Myosin-7A (Myo7A) is a motor protein crucial for the organization and function of stereocilia, specialized actin-rich protrusions on the surface of inner ear hair cells that mediate hearing. Variants in Myo7A cause several forms of genetic hearing loss, including autosomal dominant DFNA11 deafness. Despite its importance, the structural elements that control Myo7A within cells are not well understood.
View Article and Find Full Text PDFArticle Synopsis
- Myosin-7A (Myo7A) is a critical motor protein that helps organize stereocilia in inner ear hair cells, playing a key role in hearing.
- Mutations in Myo7A are linked to various genetic hearing loss conditions, particularly autosomal dominant DFNA11 deafness, but the structural aspects governing its motor functions are not fully understood.
- This study used cultured kidney cells to identify mutations that enhance Myo7A's targeting to cell surfaces, showing that specific IQ motifs in its structure are crucial for this process, and confirming that some DFNA11 mutations may lead to increased targeting, contributing to the genetics of this hearing loss.