期刊
EMBO REPORTS
卷 14, 期 2, 页码 152-163出版社
WILEY
DOI: 10.1038/embor.2012.219
关键词
transient receptor potential; cation channels; skeletal disease; neuropathy
资金
- Belgian Federal Government [IUAP P6/28, P7/13]
- Research Foundation-Flanders [G.0565.07, G.0A61.13]
- Research Council of the KU Leuven [GOA 2009/07, EF/95/010, PF-TRPLe]
Hereditary channelopathies, that is, mutations in channel genes that alter channel function and are causal for the pathogenesis of the disease, have been described for several members of the transient receptor potential channel family. Mutations in the TRPV4 gene, encoding a polymodal Ca2+ permeable channel, are causative for several human diseases, which affect the skeletal system and the peripheral nervous system, with highly variable phenotypes. In this review, we describe the phenotypes of TRPV4 channelopathies and overlapping symptoms. Putative mechanisms to explain the puzzle, and how mutations in the same region of the channel cause different diseases, are discussed and experimental approaches to tackle this surprising problem are suggested.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据