Differential mechanisms of Cantú syndrome–associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel
Identifieur interne : 007B80 ( Ncbi/Curation ); précédent : 007B79; suivant : 007B81Differential mechanisms of Cantú syndrome–associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel
Auteurs : Paige E. Cooper ; Monica Sala-Rabanal ; Sun Joo Lee ; Colin G. NicholsSource :
- The Journal of General Physiology [ 0022-1295 ] ; 2015.
Abstract
Mutations that increase the activity of ATP-sensitive potassium channels through either enhanced activation by MgADP or decreased sensitivity to inhibition by ATP can lead to Cantú syndrome.
Url:
DOI: 10.1085/jgp.201511495
PubMed: 26621776
PubMed Central: 4664827
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Cooper</name><affiliation><nlm:aff wicri:cut=", and" id="aff1"><institution>Department of Cell Biology and Physiology</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff1"><institution>Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, Saint Louis, MO 63110</institution></nlm:aff></affiliation></author><author><name sortKey="Sala Rabanal, Monica" sort="Sala Rabanal, Monica" uniqKey="Sala Rabanal M" first="Monica" last="Sala-Rabanal">Monica Sala-Rabanal</name><affiliation><nlm:aff wicri:cut=", and" id="aff1"><institution>Department of Cell Biology and Physiology</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff1"><institution>Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, Saint Louis, MO 63110</institution></nlm:aff></affiliation></author><author><name sortKey="Lee, Sun Joo" sort="Lee, Sun Joo" uniqKey="Lee S" first="Sun Joo" last="Lee">Sun Joo Lee</name><affiliation><nlm:aff wicri:cut=", and" id="aff1"><institution>Department of Cell Biology and Physiology</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff1"><institution>Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, Saint Louis, MO 63110</institution></nlm:aff></affiliation></author><author><name sortKey="Nichols, Colin G" sort="Nichols, Colin G" uniqKey="Nichols C" first="Colin G." last="Nichols">Colin G. 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Nichols</name><affiliation><nlm:aff wicri:cut=", and" id="aff1"><institution>Department of Cell Biology and Physiology</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff1"><institution>Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, Saint Louis, MO 63110</institution></nlm:aff></affiliation></author></analytic><series><title level="j">The Journal of General Physiology</title><idno type="ISSN">0022-1295</idno><idno type="eISSN">1540-7748</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Mutations that increase the activity of ATP-sensitive potassium channels through either enhanced activation by MgADP or decreased sensitivity to inhibition by ATP can lead to Cantú syndrome.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Aguilar Bryan, L" uniqKey="Aguilar Bryan L">L. 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