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Comment
. 2010 Feb;42(2):98-100.
doi: 10.1038/ng0210-98.

Channelopathies converge on TRPV4

Bernd Nilius, Grzegorz Owsianik
Free article
Comment

Channelopathies converge on TRPV4

Bernd Nilius et al. Nat Genet. 2010 Feb.
Free article

Abstract

Scapuloperoneal spinal muscular atrophy and Charcot-Marie-Tooth disease type 2C are inherited neurodegenerative diseases characterized by sensory defects and muscle weakness. Three new studies demonstrate that they are allelic disorders caused by mutations in the vanilloid transient receptor potential cation-channel gene TRPV4.

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Comment on

  • Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
    Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ. Landouré G, et al. Nat Genet. 2010 Feb;42(2):170-4. doi: 10.1038/ng.512. Epub 2009 Dec 27. Nat Genet. 2010. PMID: 20037586 Free PMC article.
  • Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
    Deng HX, Klein CJ, Yan J, Shi Y, Wu Y, Fecto F, Yau HJ, Yang Y, Zhai H, Siddique N, Hedley-Whyte ET, Delong R, Martina M, Dyck PJ, Siddique T. Deng HX, et al. Nat Genet. 2010 Feb;42(2):165-9. doi: 10.1038/ng.509. Epub 2009 Dec 27. Nat Genet. 2010. PMID: 20037587 Free PMC article.
  • Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
    Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, Strohmaier H, Lochmüller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C. Auer-Grumbach M, et al. Nat Genet. 2010 Feb;42(2):160-4. doi: 10.1038/ng.508. Epub 2009 Dec 27. Nat Genet. 2010. PMID: 20037588 Free PMC article.

References

    1. Nat Genet. 2010 Feb;42(2):170-4 - PubMed
    1. J Biol Chem. 2006 Jul 7;281(27):18753-62 - PubMed
    1. Nat Genet. 2010 Feb;42(2):160-4 - PubMed
    1. Am J Hum Genet. 2009 Mar;84(3):307-15 - PubMed
    1. Nat Genet. 2010 Feb;42(2):165-9 - PubMed

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