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.

引用

页码：170 / 174

页数：4

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