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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2009-12-16
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pubmed:abstractText |
Sudden infant death syndrome (SIDS) is a leading cause of death during the first 6 months after birth. About 5% to 10% of SIDS may stem from cardiac channelopathies such as long-QT syndrome. We recently implicated mutations in alpha1-syntrophin (SNTA1) as a novel cause of long-QT syndrome, whereby mutant SNTA1 released inhibition of associated neuronal nitric oxide synthase by the plasma membrane Ca-ATPase PMCA4b, causing increased peak and late sodium current (I(Na)) via S-nitrosylation of the cardiac sodium channel. This study determined the prevalence and functional properties of SIDS-associated SNTA1 mutations.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Calcium-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Enzyme Inhibitors,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Muscle Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Nitric Oxide Synthase,
http://linkedlifedata.com/resource/pubmed/chemical/Nos1 protein, rat,
http://linkedlifedata.com/resource/pubmed/chemical/Plasma Membrane...,
http://linkedlifedata.com/resource/pubmed/chemical/Sodium,
http://linkedlifedata.com/resource/pubmed/chemical/Sodium Channels,
http://linkedlifedata.com/resource/pubmed/chemical/sodium channel protein type 5...,
http://linkedlifedata.com/resource/pubmed/chemical/syntrophin alpha1
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1941-3084
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pubmed:author |
pubmed-author:AckermanMichael JMJ,
pubmed-author:ChengJiandingJ,
pubmed-author:EdeMM,
pubmed-author:JanuaryCraig TCT,
pubmed-author:KrobothStacieS,
pubmed-author:MakielskiJonathan CJC,
pubmed-author:Medeiros-DomingoArgeliaA,
pubmed-author:TanBi-huaBH,
pubmed-author:TesterDavid JDJ,
pubmed-author:ValdiviaCarmenC,
pubmed-author:Van NorstrandDavid WDW,
pubmed-author:VattaMatteoM
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pubmed:issnType |
Electronic
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pubmed:volume |
2
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
667-76
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pubmed:dateRevised |
2011-7-22
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pubmed:meshHeading |
pubmed-meshheading:20009079-Animals,
pubmed-meshheading:20009079-Calcium-Binding Proteins,
pubmed-meshheading:20009079-Cell Line,
pubmed-meshheading:20009079-DNA Mutational Analysis,
pubmed-meshheading:20009079-Enzyme Inhibitors,
pubmed-meshheading:20009079-Female,
pubmed-meshheading:20009079-Genotype,
pubmed-meshheading:20009079-Humans,
pubmed-meshheading:20009079-Infant,
pubmed-meshheading:20009079-Infant, Newborn,
pubmed-meshheading:20009079-Ion Channel Gating,
pubmed-meshheading:20009079-Long QT Syndrome,
pubmed-meshheading:20009079-Male,
pubmed-meshheading:20009079-Membrane Potentials,
pubmed-meshheading:20009079-Membrane Proteins,
pubmed-meshheading:20009079-Mice,
pubmed-meshheading:20009079-Muscle Proteins,
pubmed-meshheading:20009079-Mutation, Missense,
pubmed-meshheading:20009079-Myocardium,
pubmed-meshheading:20009079-Nitric Oxide Synthase,
pubmed-meshheading:20009079-Open Reading Frames,
pubmed-meshheading:20009079-Patch-Clamp Techniques,
pubmed-meshheading:20009079-Phenotype,
pubmed-meshheading:20009079-Plasma Membrane Calcium-Transporting ATPases,
pubmed-meshheading:20009079-Rats,
pubmed-meshheading:20009079-Sodium,
pubmed-meshheading:20009079-Sodium Channels,
pubmed-meshheading:20009079-Sudden Infant Death,
pubmed-meshheading:20009079-Time Factors,
pubmed-meshheading:20009079-Transfection
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pubmed:year |
2009
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pubmed:articleTitle |
Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.
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pubmed:affiliation |
Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin, Madison, WI, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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