Literature DB >> 20104247

Channelopathies converge on TRPV4.

Bernd Nilius, Grzegorz Owsianik.   

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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Year:  2010        PMID： 20104247     DOI： 10.1038/ng0210-98

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  13 in total

1.  A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels.

Authors:  N Zerangue; B Schwappach; Y N Jan; L Y Jan
Journal:  Neuron       Date:  1999-03       Impact factor: 17.173

2.  PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4.

Authors:  Math P Cuajungco; Christian Grimm; Kazuo Oshima; Dieter D'hoedt; Bernd Nilius; Arjen R Mensenkamp; René J M Bindels; Markus Plomann; Stefan Heller
Journal:  J Biol Chem       Date:  2006-04-20       Impact factor: 5.157

Review 3.  Structure-function relationship of the TRP channel superfamily.

Authors:  G Owsianik; D D'hoedt; T Voets; B Nilius
Journal:  Rev Physiol Biochem Pharmacol       Date:  2006       Impact factor: 5.545

4.  Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

Authors:  Deborah Krakow; Joris Vriens; Natalia Camacho; Phi Luong; Hannah Deixler; Tara L Funari; Carlos A Bacino; Mira B Irons; Ingrid A Holm; Laurie Sadler; Ericka B Okenfuss; Annelies Janssens; Thomas Voets; David L Rimoin; Ralph S Lachman; Bernd Nilius; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2009-02-19       Impact factor: 11.025

5.  Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

Authors:  Matthew J Rock; Jean Prenen; Vincent A Funari; Tara L Funari; Barry Merriman; Stanley F Nelson; Ralph S Lachman; William R Wilcox; Soraya Reyno; Roberto Quadrelli; Alicia Vaglio; Grzegorz Owsianik; Annelies Janssens; Thomas Voets; Shiro Ikegawa; Toshiro Nagai; David L Rimoin; Bernd Nilius; Daniel H Cohn
Journal:  Nat Genet       Date:  2008-06-29       Impact factor: 38.330

6.  N-((1S)-1-{[4-((2S)-2-{[(2,4-dichlorophenyl)sulfonyl]amino}-3-hydroxypropanoyl)-1-piperazinyl]carbonyl}-3-methylbutyl)-1-benzothiophene-2-carboxamide (GSK1016790A), a novel and potent transient receptor potential vanilloid 4 channel agonist induces urinary bladder contraction and hyperactivity: Part I.

Authors:  Kevin S Thorneloe; Anthony C Sulpizio; Zuojun Lin; David J Figueroa; Angela K Clouse; Gerald P McCafferty; Tim P Chendrimada; Erin S R Lashinger; Earl Gordon; Louise Evans; Blake A Misajet; Douglas J Demarini; Josephine H Nation; Linda N Casillas; Robert W Marquis; Bartholomew J Votta; Steven A Sheardown; Xiaoping Xu; David P Brooks; Nicholas J Laping; Timothy D Westfall
Journal:  J Pharmacol Exp Ther       Date:  2008-05-22       Impact factor: 4.030

7.  Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

Authors:  Michaela Auer-Grumbach; Andrea Olschewski; Lea Papić; Hannie Kremer; Meriel E McEntagart; Sabine Uhrig; Carina Fischer; Eleonore Fröhlich; Zoltán Bálint; Bi Tang; Heimo Strohmaier; Hanns Lochmüller; Beate Schlotter-Weigel; Jan Senderek; Angelika Krebs; Katherine J Dick; Richard Petty; Cheryl Longman; Neil E Anderson; George W Padberg; Helenius J Schelhaas; Conny M A van Ravenswaaij-Arts; Thomas R Pieber; Andrew H Crosby; Christian Guelly
Journal:  Nat Genet       Date:  2009-12-27       Impact factor: 38.330

8.  Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

Authors:  Han-Xiang Deng; Christopher J Klein; Jianhua Yan; Yong Shi; Yanhong Wu; Faisal Fecto; Hau-Jie Yau; Yi Yang; Hong Zhai; Nailah Siddique; E Tessa Hedley-Whyte; Robert Delong; Marco Martina; Peter J Dyck; Teepu Siddique
Journal:  Nat Genet       Date:  2009-12-27       Impact factor: 38.330

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

Authors:  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
Journal:  Nat Genet       Date:  2009-12-27       Impact factor: 38.330

Review 10.  Transient receptor potential channels meet phosphoinositides.

Authors:  Bernd Nilius; Grzegorz Owsianik; Thomas Voets
Journal:  EMBO J       Date:  2008-10-16       Impact factor: 11.598
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  26 in total

1.  A Special Issue on channelopathies.

Authors:  Bernd Nilius
Journal:  Pflugers Arch       Date:  2010-07       Impact factor: 3.657

2.  Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force.

Authors:  Stephen Loukin; Xinliang Zhou; Zhenwei Su; Yoshiro Saimi; Ching Kung
Journal:  J Biol Chem       Date:  2010-07-06       Impact factor: 5.157

3.  Bernd Nilius: the bard of ion channels. Congratulations on 65th birthday.

Authors:  Alexei Verkhratsky; Ole H Petersen
Journal:  Pflugers Arch       Date:  2010-06-29       Impact factor: 3.657

Review 4.  Transient receptor potential channelopathies.

Authors:  Bernd Nilius; Grzegorz Owsianik
Journal:  Pflugers Arch       Date:  2010-02-04       Impact factor: 3.657

Review 5.  A network perspective on unraveling the role of TRP channels in biology and disease.

Authors:  Jung Nyeo Chun; Jin Muk Lim; Young Kang; Eung Hee Kim; Young-Cheul Shin; Hong-Gee Kim; Dayk Jang; Dongseop Kwon; Soo-Yong Shin; Insuk So; Ju-Hong Jeon
Journal:  Pflugers Arch       Date:  2013-05-16       Impact factor: 3.657

Review 6.  TRPV4 ion channel as important cell sensors.

Authors:  Koji Shibasaki
Journal:  J Anesth       Date:  2016-08-09       Impact factor: 2.078

Review 7.  Introducing STRaNDs: shuttling transcriptional regulators that are non-DNA binding.

Authors:  Min Lu; Mary R Muers; Xin Lu
Journal:  Nat Rev Mol Cell Biol       Date:  2016-05-25       Impact factor: 94.444

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

Authors:  Faisal Fecto; Yong Shi; Rafiq Huda; Marco Martina; Teepu Siddique; Han-Xiang Deng
Journal:  J Biol Chem       Date:  2011-03-21       Impact factor: 5.157

9.  Importance of non-selective cation channel TRPV4 interaction with cytoskeleton and their reciprocal regulations in cultured cells.

Authors:  Chandan Goswami; Julia Kuhn; Paul A Heppenstall; Tim Hucho
Journal:  PLoS One       Date:  2010-07-19       Impact factor: 3.240

10.  Angiotensin II induces membrane trafficking of natively expressed transient receptor potential vanilloid type 4 channels in hypothalamic 4B cells.

Authors:  Ashwini Saxena; Martha Bachelor; Yong H Park; Flavia R Carreno; T Prashant Nedungadi; J Thomas Cunningham
Journal:  Am J Physiol Regul Integr Comp Physiol       Date:  2014-07-30       Impact factor: 3.619
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