TRPV4 neuropathies
Calcium channel inhibition as a therapeutic target?
March 8, 2011 issue
76 (10) 856-857
Get full access to this article
View all available purchase options and get full access to this article.
REFERENCES
1.
Auer-Grumbach M, Olschewski A, Papic L, et al. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet 2010;42:160–164.
2.
Deng HX, Klein CJ, Yan J, et al. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat Genet 2010;42:165–169.
3.
Landoure G, Zdebik AA, Martinez TL, et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet 2010;42:170–174.
4.
Nilius B, Owsianik G. Channelopathies converge on TRPV4. Nat Genet 2010;42:98–100.
5.
Zimon M, Baets J, Auer-Grumbach M, et al. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain 2010;133:1798–1809.
6.
Rock MJ, Prenen J, Funari VA, et al. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet 2008;40:999–1003.
7.
Dai J, Kim OH, Cho TJ, et al. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet 2010;47:704–709.
8.
Chen DH, Sul Y, Weiss M, et al. CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. Neurology 2010;75:1968–1975.
9.
Klein CJ, Shi Y, Fecto F, et al. TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. Neurology 2011;76:887–894.
10.
Everaerts W, Zhen X, Ghosh D, et al. Inhibition of the cation channel TRPV4 improves bladder function in mice and rats with cyclophosphamide-induced cystitis. Proc Natl Acad Sci USA 2010;107:19084–19089.
Information & Authors
Information
Published In
Neurology®
Volume 76 • Number 10 • March 8, 2011
Pages: 856-857
Copyright
Copyright © 2011 by AAN Enterprises, Inc.
Publication History
Published online: February 2, 2011
Published in print: March 8, 2011
Authors
Funding Information
Disclosure: The authors report no disclosures
Metrics & Citations
Metrics
Citations
Download Citations
If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Select your manager software from the list below and click Download.
Cited By
- TRPV4 plays an important role in rat prefrontal cortex changes induced by acute hypoxic exercise, Saudi Journal of Biological Sciences, 26, 6, (1194-1206), (2019).https://doi.org/10.1016/j.sjbs.2019.06.001
- The puzzle of TRPV4 channelopathies, EMBO reports, 14, 2, (152-163), (2013).https://doi.org/10.1038/embor.2012.219
- Dominant Charcot–Marie–Tooth syndrome and cognate disorders, Peripheral Nerve Disorders, (817-845), (2013).https://doi.org/10.1016/B978-0-444-52902-2.00047-3
- TRPV4 axonal neuropathy spectrum disorder, Journal of Clinical Neuroscience, 19, 7, (927-933), (2012).https://doi.org/10.1016/j.jocn.2011.12.003
Loading...
View Options
Get Access
Login options
Check if you have access through your login credentials or your institution to get full access on this article.
Personal login Institutional LoginPurchase Options
Purchase this article to get full access to it.