Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong.
Physiology (Bethesda). 2012 Feb;27(1):25-42. doi: 10.1152/physiol.00037.2011.
Usher syndrome 1 (USH1) is the most common and severe form of hereditary loss of hearing and vision. Genetic, physiological, and cell biological studies, together with recent structural investigations, have not only uncovered the physiological functions of the five USH1 proteins but also provided mechanistic explanations for the hearing and visual deficiencies in humans caused by USH1 mutations. This review focuses on the structural basis of the USH1 protein complex organization.
Usher 综合征 1 型（USH1）是遗传性听力和视力丧失中最常见且最严重的形式。遗传、生理和细胞生物学研究，以及最近的结构研究，不仅揭示了五个 USH1 蛋白的生理功能，还为 USH1 突变导致的人类听力和视力缺陷提供了机制解释。本文重点介绍 USH1 蛋白复合物组织的结构基础。
