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TRPV4-pathy, a novel channelopathy affecting diverse systems.

J Hum Genet 55:400-2 (2010)
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Fecto F, Shi Y, Huda R, Martina M, Siddique T, Deng HX

Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.

J Biol Chem 286:17281-91 (2011)
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Zimon M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landoure G, Ludlow CL, Gaudet R, Houlden H, Reilly MM, Fischbeck KH, Sumner CJ, Timmerman V, Jordanova A, Jonghe PD

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

Brain 133:1798-809 (2010)
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