Literature DB >> 16075038

The channelopathies: novel insights into molecular and genetic mechanisms of human disease.

Robert S Kass1.   

Abstract

Ion channels are pore-forming proteins that provide pathways for the controlled movement of ions into or out of cells. Ionic movement across cell membranes is critical for essential and physiological processes ranging from control of the strength and duration of the heartbeat to the regulation of insulin secretion in pancreatic beta cells. Diseases caused by mutations in genes that encode ion channel subunits or regulatory proteins are referred to as channelopathies. As might be expected based on the diverse roles of ion channels, channelopathies range from inherited cardiac arrhythmias, to muscle disorders, to forms of diabetes. This series of reviews examines the roles of ion channels in health and disease.

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Year:  2005        PMID: 16075038      PMCID: PMC1180558          DOI: 10.1172/JCI26011

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  29 in total

1.  Single-channel currents recorded from membrane of denervated frog muscle fibres.

Authors:  E Neher; B Sakmann
Journal:  Nature       Date:  1976-04-29       Impact factor: 49.962

Review 2.  Potassium channels.

Authors:  Roderick MacKinnon
Journal:  FEBS Lett       Date:  2003-11-27       Impact factor: 4.124

3.  Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

Authors:  P J Schwartz; S G Priori; C Spazzolini; A J Moss; G M Vincent; C Napolitano; I Denjoy; P Guicheney; G Breithardt; M T Keating; J A Towbin; A H Beggs; P Brink; A A Wilde; L Toivonen; W Zareba; J L Robinson; K W Timothy; V Corfield; D Wattanasirichaigoon; C Corbett; W Haverkamp; E Schulze-Bahr; M H Lehmann; K Schwartz; P Coumel; R Bloise
Journal:  Circulation       Date:  2001-01-02       Impact factor: 29.690

4.  Molecular pharmacology of the sodium channel mutation D1790G linked to the long-QT syndrome.

Authors:  H Abriel; X H Wehrens; J Benhorin; B Kerem; R S Kass
Journal:  Circulation       Date:  2000-08-22       Impact factor: 29.690

5.  Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome.

Authors:  A J Moss; W Zareba; W J Hall; P J Schwartz; R S Crampton; J Benhorin; G M Vincent; E H Locati; S G Priori; C Napolitano; A Medina; L Zhang; J L Robinson; K Timothy; J A Towbin; M L Andrews
Journal:  Circulation       Date:  2000-02-15       Impact factor: 29.690

6.  Abrupt rate accelerations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome.

Authors:  D Nuyens; M Stengl; S Dugarmaa; T Rossenbacker; V Compernolle; Y Rudy; J F Smits; W Flameng; C E Clancy; L Moons; M A Vos; M Dewerchin; K Benndorf; D Collen; E Carmeliet; P Carmeliet
Journal:  Nat Med       Date:  2001-09       Impact factor: 53.440

7.  Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.

Authors:  Arthur J Moss; Wojciech Zareba; Elizabeth S Kaufman; Eric Gartman; Derick R Peterson; Jesaia Benhorin; Jeffrey A Towbin; Mark T Keating; Silvia G Priori; Peter J Schwartz; G Michael Vincent; Jennifer L Robinson; Mark L Andrews; Changyong Feng; W Jackson Hall; Aharon Medina; Li Zhang; Zhiqing Wang
Journal:  Circulation       Date:  2002-02-19       Impact factor: 29.690

8.  Effects of flecainide in patients with new SCN5A mutation: mutation-specific therapy for long-QT syndrome?

Authors:  J Benhorin; R Taub; M Goldmit; B Kerem; R S Kass; I Windman; A Medina
Journal:  Circulation       Date:  2000-04-11       Impact factor: 29.690

9.  Non-equilibrium gating in cardiac Na+ channels: an original mechanism of arrhythmia.

Authors:  Colleen E Clancy; Michihiro Tateyama; Huajun Liu; Xander H T Wehrens; Robert S Kass
Journal:  Circulation       Date:  2003-04-14       Impact factor: 29.690

10.  Molecular basis of an inherited epilepsy.

Authors:  Christoph Lossin; Dao W Wang; Thomas H Rhodes; Carlos G Vanoye; Alfred L George
Journal:  Neuron       Date:  2002-06-13       Impact factor: 17.173

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  44 in total

1.  Finding Channels.

Authors:  William A Catterall
Journal:  J Biol Chem       Date:  2015-10-02       Impact factor: 5.157

2.  Characterization of the Functional Domains of a Mammalian Voltage-Sensitive Phosphatase.

Authors:  Mario G Rosasco; Sharona E Gordon; Sandra M Bajjalieh
Journal:  Biophys J       Date:  2015-12-15       Impact factor: 4.033

Review 3.  Neuronal survival in epilepsy: to die or not to die?

Authors:  Subramaniam Ganesh; Shweta Singh
Journal:  J Biosci       Date:  2005-12       Impact factor: 1.826

4.  Extracellular K+ concentration controls cell surface density of IKr in rabbit hearts and of the HERG channel in human cell lines.

Authors:  Jun Guo; Hamid Massaeli; Jianmin Xu; Zongchao Jia; Jeffrey T Wigle; Nasrin Mesaeli; Shetuan Zhang
Journal:  J Clin Invest       Date:  2009-08-24       Impact factor: 14.808

5.  Channelopathies and drug discovery in the postgenomic era.

Authors:  Dayue Darrel Duan; Tong-hui Ma
Journal:  Acta Pharmacol Sin       Date:  2011-06       Impact factor: 6.150

6.  Chemoselective tarantula toxins report voltage activation of wild-type ion channels in live cells.

Authors:  Drew C Tilley; Kenneth S Eum; Sebastian Fletcher-Taylor; Daniel C Austin; Christophe Dupré; Lilian A Patrón; Rita L Garcia; Kit Lam; Vladimir Yarov-Yarovoy; Bruce E Cohen; Jon T Sack
Journal:  Proc Natl Acad Sci U S A       Date:  2014-10-20       Impact factor: 11.205

7.  Challenges and advances in atomistic simulations of potassium and sodium ion channel gating and permeation.

Authors:  Kevin R DeMarco; Slava Bekker; Igor Vorobyov
Journal:  J Physiol       Date:  2018-12-19       Impact factor: 5.182

8.  An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

Authors:  Kyoko Takano; Dan Liu; Patrick Tarpey; Esther Gallant; Alex Lam; Shawn Witham; Emil Alexov; Alka Chaubey; Roger E Stevenson; Charles E Schwartz; Philip G Board; Angela F Dulhunty
Journal:  Hum Mol Genet       Date:  2012-07-19       Impact factor: 6.150

9.  Transcriptional profiling reveals ductus arteriosus-specific genes that regulate vascular tone.

Authors:  Elaine L Shelton; Gerren Ector; Cristi L Galindo; Christopher W Hooper; Naoko Brown; Irene Wilkerson; Elise R Pfaltzgraff; Bibhash C Paria; Robert B Cotton; Jason Z Stoller; Jeff Reese
Journal:  Physiol Genomics       Date:  2014-05-01       Impact factor: 3.107

10.  Cyclosporin and Timothy syndrome increase mode 2 gating of CaV1.2 calcium channels through aberrant phosphorylation of S6 helices.

Authors:  Christian Erxleben; Yanhong Liao; Saverio Gentile; David Chin; Claudio Gomez-Alegria; Yasuo Mori; Lutz Birnbaumer; David L Armstrong
Journal:  Proc Natl Acad Sci U S A       Date:  2006-02-28       Impact factor: 11.205

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