Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-ons...
Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression
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United States: Public Library of Science (PLoS)
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English
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United States: Public Library of Science (PLoS)
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Contents
ATP-sensitive potassium (K(ATP)) channels are widely distributed in various tissues and cell types where they couple cell metabolism to cell excitability. Gain of channel function (GOF) mutations in the genes encoding Kir6.2 (KCNJ11) or the associated regulatory ssulfonylurea receptor 1 subunit (ABCC8), cause developmental delay, epilepsy and neona...
Alternative Titles
Full title
Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression
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TN_cdi_doaj_primary_oai_doaj_org_article_ee9f154bf7564cc08a8bd71a3bf354eb
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ee9f154bf7564cc08a8bd71a3bf354eb
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0063758
