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The puzzle of TRPV4 channelopathies
Open accessAbstract
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 Ca 2+ 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.
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Cited by
TRPV4: molecular conductor of a diverse orchestra
White, J. P. M., Cibelli, M., Urban, L., Nilius, B., McGeown, J. G., & Nagy, I. (2016) · Physiological Reviews · doi:10.1152/physrev.00016.2015 · Cited by 405
Self-citationNeuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension
McCray, B. A., Diehl, E., Sullivan, J. M., Aisenberg, W. H., Zaccor, N. W., Lau, A. R., Rich, D. J., Goretzki, B., Hellmich, U. A., Lloyd, T. E., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-21699-y · Cited by 57
Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., Conant, A., Bent, S. J., Gripp, K. W., Hahn, A., et al. (2017) · neurogenetics · doi:10.1007/s10048-017-0520-x · Cited by 48
Metadata
- Authors
- Nilius, B., & Voets, T.
- Venue
- EMBO reports
- Published
- 2013-01-11
- Volume
- 14
- Issue
- 2
- Pages
- 152-163
- ISSN
- 1469-221X (ISSN-L)
- 1469-3178
- OpenAlex
- W2135741627
- Cited by
- 297
- References
- 0
- FWCI
- 16.24
- Type
- journal article
- Language
- en
- Open access
- hybrid
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