Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

被引：0
|
作者：
Guida Landouré
Anselm A Zdebik
Tara L Martinez
Barrington G Burnett
Horia C Stanescu
Hitoshi Inada
Yijun Shi
Addis A Taye
Lingling Kong
Clare H Munns
Shelly S Choo
Christopher B Phelps
Reema Paudel
Henry Houlden
Christy L Ludlow
Michael J Caterina
Rachelle Gaudet
Robert Kleta
Kenneth H Fischbeck
Charlotte J Sumner
机构：
[1] University College London,Department of Medicine
[2] Physiology and Pharmacology,Department of Neuroscience
[3] University College London,Department of Neurology
[4] Neurogenetics Branch,W. Harry Feinstone Department of Molecular Microbiology and Immunology
[5] National Institute of Neurological Disorders and Stroke (NINDS),Department of Molecular and Cellular Biology
[6] National Institutes of Health (NIH),Department of Biological Chemistry
[7] Service de Neurologie,Department of Neuroscience
[8] Centre Hospitalo-Universitaire du Point 'G',undefined
[9] Université de Bamako,undefined
[10] Johns Hopkins University,undefined
[11] Johns Hopkins Bloomberg School of Public Health,undefined
[12] Harvard University,undefined
[13] Center of Sensory Biology,undefined
[14] Johns Hopkins University,undefined
[15] Center of Sensory Biology,undefined
[16] Johns Hopkins University,undefined
[17] University College London,undefined
[18] Institute of Neurology,undefined
[19] Laboratory of Neural Bases of Communication and Swallowing,undefined
[20] James Madison University,undefined
来源：
Nature Genetics | 2010年 / 42卷
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摘要：
Charlotte Sumner and colleagues report that mutations in the ankyrin repeat region of TRPV4 cause Charcot-Marie-Tooth disease type 2C. Their functional studies indicate that the mutations result in increased channel activity.
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页码：170 / 174
页数：4
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