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Title: The puzzle of TRPV4 channelopathies
Authors: Nilius, Bernd ×
Voets, Thomas #
Issue Date: Feb-2013
Publisher: Published for EMBO by Oxford University Press
Series Title: EMBO reports vol:14 issue:2 pages:152-63
Article number: 10.1038/embor.2012.219
Abstract: 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.
URI: 
ISSN: 1469-221X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Cellular and Molecular Medicine - miscellaneous
× corresponding author
# (joint) last author

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