Differential mechanisms of Cantú syndrome–associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel
Identifieur interne : 007B80 ( Ncbi/Merge ); 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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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Differential mechanisms of Cantú syndrome–associated gain of function mutations in the <italic>ABCC9</italic> (SUR2) subunit of the K<sub>ATP</sub> channel</title><author><name sortKey="Cooper, Paige E" sort="Cooper, Paige E" uniqKey="Cooper P" first="Paige E." last="Cooper">Paige E. 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. 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></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26621776</idno><idno type="pmc">4664827</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664827</idno><idno type="RBID">PMC:4664827</idno><idno type="doi">10.1085/jgp.201511495</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000349</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000349</idno><idno type="wicri:Area/Pmc/Curation">000349</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000349</idno><idno type="wicri:Area/Pmc/Checkpoint">001343</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001343</idno><idno type="wicri:Area/Ncbi/Merge">007B80</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Differential mechanisms of Cantú syndrome–associated gain of function mutations in the <italic>ABCC9</italic> (SUR2) subunit of the K<sub>ATP</sub> channel</title><author><name sortKey="Cooper, Paige E" sort="Cooper, Paige E" uniqKey="Cooper P" first="Paige E." last="Cooper">Paige E. 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. 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. Aguilar-Bryan</name></author><author><name sortKey="Nichols, C G" uniqKey="Nichols C">C.G. Nichols</name></author><author><name sortKey="Wechsler, S W" uniqKey="Wechsler S">S.W. Wechsler</name></author><author><name sortKey="Clement, J P" uniqKey="Clement J">J.P. Clement</name></author><author><name sortKey="Boyd, A E" uniqKey="Boyd A">A.E. Boyd</name></author><author><name sortKey="Gonzalez, G" uniqKey="Gonzalez G">G. González</name></author><author><name sortKey="Herrera Sosa, H" uniqKey="Herrera Sosa H">H. Herrera-Sosa</name></author><author><name sortKey="Nguy, K" uniqKey="Nguy K">K. Nguy</name></author><author><name sortKey="Bryan, J" uniqKey="Bryan J">J. Bryan</name></author><author><name sortKey="Nelson, D A" uniqKey="Nelson D">D.A. Nelson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Akrouh, A" uniqKey="Akrouh A">A. Akrouh</name></author><author><name sortKey="Halcomb, S E" uniqKey="Halcomb S">S.E. Halcomb</name></author><author><name sortKey="Nichols, C G" uniqKey="Nichols C">C.G. Nichols</name></author><author><name sortKey="Sala Rabanal, M" uniqKey="Sala Rabanal M">M. Sala-Rabanal</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ashford, M L" uniqKey="Ashford M">M.L. Ashford</name></author><author><name sortKey="Sturgess, N C" uniqKey="Sturgess N">N.C. Sturgess</name></author><author><name sortKey="Trout, N J" uniqKey="Trout N">N.J. Trout</name></author><author><name sortKey="Gardner, N J" uniqKey="Gardner N">N.J. Gardner</name></author><author><name sortKey="Hales, C N" uniqKey="Hales C">C.N. Hales</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Babenko, A P" uniqKey="Babenko A">A.P. Babenko</name></author><author><name sortKey="Polak, M" uniqKey="Polak M">M. Polak</name></author><author><name sortKey="Cave, H" uniqKey="Cave H">H. Cavé</name></author><author><name sortKey="Busiah, K" uniqKey="Busiah K">K. Busiah</name></author><author><name sortKey="Czernichow, P" uniqKey="Czernichow P">P. Czernichow</name></author><author><name sortKey="Scharfmann, R" uniqKey="Scharfmann R">R. Scharfmann</name></author><author><name sortKey="Bryan, J" uniqKey="Bryan J">J. Bryan</name></author><author><name sortKey="Aguilar Bryan, L" uniqKey="Aguilar Bryan L">L. Aguilar-Bryan</name></author><author><name sortKey="Vaxillaire, M" uniqKey="Vaxillaire M">M. Vaxillaire</name></author><author><name sortKey="Froguel, P" uniqKey="Froguel P">P. Froguel</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Brownstein, C A" uniqKey="Brownstein C">C.A. Brownstein</name></author><author><name sortKey="Towne, M C" uniqKey="Towne M">M.C. Towne</name></author><author><name sortKey="Luquette, L J" uniqKey="Luquette L">L.J. Luquette</name></author><author><name sortKey="Harris, D J" uniqKey="Harris D">D.J. Harris</name></author><author><name sortKey="Marinakis, N S" uniqKey="Marinakis N">N.S. Marinakis</name></author><author><name sortKey="Meinecke, P" uniqKey="Meinecke P">P. Meinecke</name></author><author><name sortKey="Kutsche, K" uniqKey="Kutsche K">K. Kutsche</name></author><author><name sortKey="Campeau, P M" uniqKey="Campeau P">P.M. Campeau</name></author><author><name sortKey="Yu, T W" uniqKey="Yu T">T.W. Yu</name></author><author><name sortKey="Margulies, D M" uniqKey="Margulies D">D.M. Margulies</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cantu, J M" uniqKey="Cantu J">J.M. Cantú</name></author><author><name sortKey="Garcia Cruz, D" uniqKey="Garcia Cruz D">D. García-Cruz</name></author><author><name sortKey="Sanchez Corona, J" uniqKey="Sanchez Corona J">J. Sánchez-Corona</name></author><author><name sortKey="Hernandez, A" uniqKey="Hernandez A">A. Hernández</name></author><author><name sortKey="Nazara, Z" uniqKey="Nazara Z">Z. Nazará</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cook, D L" uniqKey="Cook D">D.L. Cook</name></author><author><name sortKey="Hales, C N" uniqKey="Hales C">C.N. Hales</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cooper, P E" uniqKey="Cooper P">P.E. Cooper</name></author><author><name sortKey="Reutter, H" uniqKey="Reutter H">H. Reutter</name></author><author><name sortKey="Woelfle, J" uniqKey="Woelfle J">J. Woelfle</name></author><author><name sortKey="Engels, H" uniqKey="Engels H">H. Engels</name></author><author><name sortKey="Grange, D K" uniqKey="Grange D">D.K. Grange</name></author><author><name sortKey="Van Haaften, G" uniqKey="Van Haaften G">G. van Haaften</name></author><author><name sortKey="Van Bon, B W" uniqKey="Van Bon B">B.W. van Bon</name></author><author><name sortKey="Hoischen, A" uniqKey="Hoischen A">A. Hoischen</name></author><author><name sortKey="Nichols, C G" uniqKey="Nichols C">C.G. Nichols</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="De Wet, H" uniqKey="De Wet H">H. de Wet</name></author><author><name sortKey="Mikhailov, M V" uniqKey="Mikhailov M">M.V. Mikhailov</name></author><author><name sortKey="Fotinou, C" uniqKey="Fotinou C">C. Fotinou</name></author><author><name sortKey="Dreger, M" uniqKey="Dreger M">M. Dreger</name></author><author><name sortKey="Craig, T J" uniqKey="Craig T">T.J. Craig</name></author><author><name sortKey="Venien Bryan, C" uniqKey="Venien Bryan C">C. Vénien-Bryan</name></author><author><name sortKey="Ashcroft, F M" uniqKey="Ashcroft F">F.M. Ashcroft</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="De Wet, H" uniqKey="De Wet H">H. de Wet</name></author><author><name sortKey="Rees, M G" uniqKey="Rees M">M.G. Rees</name></author><author><name sortKey="Shimomura, K" uniqKey="Shimomura K">K. Shimomura</name></author><author><name sortKey="Aittoniemi, J" uniqKey="Aittoniemi J">J. Aittoniemi</name></author><author><name sortKey="Patch, A M" uniqKey="Patch A">A.M. Patch</name></author><author><name sortKey="Flanagan, S E" uniqKey="Flanagan S">S.E. Flanagan</name></author><author><name sortKey="Ellard, S" uniqKey="Ellard S">S. Ellard</name></author><author><name sortKey="Hattersley, A T" uniqKey="Hattersley A">A.T. Hattersley</name></author><author><name sortKey="Sansom, M S" uniqKey="Sansom M">M.S. Sansom</name></author><author><name sortKey="Ashcroft, F M" uniqKey="Ashcroft F">F.M. Ashcroft</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="De Wet, H" uniqKey="De Wet H">H. de Wet</name></author><author><name sortKey="Proks, P" uniqKey="Proks P">P. Proks</name></author><author><name sortKey="Lafond, M" uniqKey="Lafond M">M. Lafond</name></author><author><name sortKey="Aittoniemi, J" uniqKey="Aittoniemi J">J. Aittoniemi</name></author><author><name sortKey="Sansom, M S" uniqKey="Sansom M">M.S. Sansom</name></author><author><name sortKey="Flanagan, S E" uniqKey="Flanagan S">S.E. Flanagan</name></author><author><name sortKey="Pearson, E R" uniqKey="Pearson E">E.R. Pearson</name></author><author><name sortKey="Hattersley, A T" uniqKey="Hattersley A">A.T. Hattersley</name></author><author><name sortKey="Ashcroft, F M" uniqKey="Ashcroft F">F.M. Ashcroft</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dorschner, H" uniqKey="Dorschner H">H. Dörschner</name></author><author><name sortKey="Brekardin, E" uniqKey="Brekardin E">E. Brekardin</name></author><author><name sortKey="Uhde, I" uniqKey="Uhde I">I. Uhde</name></author><author><name sortKey="Schwanstecher, C" uniqKey="Schwanstecher C">C. Schwanstecher</name></author><author><name sortKey="Schwanstecher, M" uniqKey="Schwanstecher M">M. Schwanstecher</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Findlay, I" uniqKey="Findlay I">I. Findlay</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gloyn, A L" uniqKey="Gloyn A">A.L. Gloyn</name></author><author><name sortKey="Pearson, E R" uniqKey="Pearson E">E.R. Pearson</name></author><author><name sortKey="Antcliff, J F" uniqKey="Antcliff J">J.F. Antcliff</name></author><author><name sortKey="Proks, P" uniqKey="Proks P">P. Proks</name></author><author><name sortKey="Bruining, G J" uniqKey="Bruining G">G.J. Bruining</name></author><author><name sortKey="Slingerland, A S" uniqKey="Slingerland A">A.S. Slingerland</name></author><author><name sortKey="Howard, N" uniqKey="Howard N">N. Howard</name></author><author><name sortKey="Srinivasan, S" uniqKey="Srinivasan S">S. Srinivasan</name></author><author><name sortKey="Silva, J M" uniqKey="Silva J">J.M. Silva</name></author><author><name sortKey="Molnes, J" uniqKey="Molnes J">J. Molnes</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Harakalova, M" uniqKey="Harakalova M">M. Harakalova</name></author><author><name sortKey="Van Harssel, J J" uniqKey="Van Harssel J">J.J. van Harssel</name></author><author><name sortKey="Terhal, P A" uniqKey="Terhal P">P.A. Terhal</name></author><author><name sortKey="Van Lieshout, S" uniqKey="Van Lieshout S">S. van Lieshout</name></author><author><name sortKey="Duran, K" uniqKey="Duran K">K. Duran</name></author><author><name sortKey="Renkens, I" uniqKey="Renkens I">I. Renkens</name></author><author><name sortKey="Amor, D J" uniqKey="Amor D">D.J. Amor</name></author><author><name sortKey="Wilson, L C" uniqKey="Wilson L">L.C. Wilson</name></author><author><name sortKey="Kirk, E P" uniqKey="Kirk E">E.P. Kirk</name></author><author><name sortKey="Turner, C L" uniqKey="Turner C">C.L. Turner</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Inagaki, N" uniqKey="Inagaki N">N. Inagaki</name></author><author><name sortKey="Gonoi, T" uniqKey="Gonoi T">T. Gonoi</name></author><author><name sortKey="Clement, J P" uniqKey="Clement J">J.P. Clement</name></author><author><name sortKey="Namba, N" uniqKey="Namba N">N. Namba</name></author><author><name sortKey="Inazawa, J" uniqKey="Inazawa J">J. Inazawa</name></author><author><name sortKey="Gonzalez, G" uniqKey="Gonzalez G">G. Gonzalez</name></author><author><name sortKey="Aguilar Bryan, L" uniqKey="Aguilar Bryan L">L. Aguilar-Bryan</name></author><author><name sortKey="Seino, S" uniqKey="Seino S">S. Seino</name></author><author><name sortKey="Bryan, J" uniqKey="Bryan J">J. Bryan</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Inagaki, N" uniqKey="Inagaki N">N. Inagaki</name></author><author><name sortKey="Tsuura, Y" uniqKey="Tsuura Y">Y. Tsuura</name></author><author><name sortKey="Namba, N" uniqKey="Namba N">N. Namba</name></author><author><name sortKey="Masuda, K" uniqKey="Masuda K">K. Masuda</name></author><author><name sortKey="Gonoi, T" uniqKey="Gonoi T">T. Gonoi</name></author><author><name sortKey="Horie, M" uniqKey="Horie M">M. Horie</name></author><author><name sortKey="Seino, Y" uniqKey="Seino Y">Y. Seino</name></author><author><name sortKey="Mizuta, M" uniqKey="Mizuta M">M. Mizuta</name></author><author><name sortKey="Seino, S" uniqKey="Seino S">S. Seino</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Inagaki, N" uniqKey="Inagaki N">N. Inagaki</name></author><author><name sortKey="Gonoi, T" uniqKey="Gonoi T">T. Gonoi</name></author><author><name sortKey="Clement, J P" uniqKey="Clement J">J.P. Clement</name></author><author><name sortKey="Wang, C Z" uniqKey="Wang C">C.Z. Wang</name></author><author><name sortKey="Aguilar Bryan, L" uniqKey="Aguilar Bryan L">L. Aguilar-Bryan</name></author><author><name sortKey="Bryan, J" uniqKey="Bryan J">J. Bryan</name></author><author><name sortKey="Seino, S" uniqKey="Seino S">S. Seino</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Koster, J C" uniqKey="Koster J">J.C. Koster</name></author><author><name sortKey="Sha, Q" uniqKey="Sha Q">Q. Sha</name></author><author><name sortKey="Nichols, C G" uniqKey="Nichols C">C.G. Nichols</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Koster, J C" uniqKey="Koster J">J.C. Koster</name></author><author><name sortKey="Remedi, M S" uniqKey="Remedi M">M.S. Remedi</name></author><author><name sortKey="Dao, C" uniqKey="Dao C">C. Dao</name></author><author><name sortKey="Nichols, C G" uniqKey="Nichols C">C.G. Nichols</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lin, Y W" uniqKey="Lin Y">Y.W. Lin</name></author><author><name sortKey="Li, A" uniqKey="Li A">A. Li</name></author><author><name sortKey="Grasso, V" uniqKey="Grasso V">V. Grasso</name></author><author><name sortKey="Battaglia, D" uniqKey="Battaglia D">D. Battaglia</name></author><author><name sortKey="Crin, A" uniqKey="Crin A">A. Crinò</name></author><author><name sortKey="Colombo, C" uniqKey="Colombo C">C. Colombo</name></author><author><name sortKey="Barbetti, F" uniqKey="Barbetti F">F. Barbetti</name></author><author><name sortKey="Nichols, C G" uniqKey="Nichols C">C.G. Nichols</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Masia, R" uniqKey="Masia R">R. Masia</name></author><author><name sortKey="Enkvetchakul, D" uniqKey="Enkvetchakul D">D. Enkvetchakul</name></author><author><name sortKey="Nichols, C G" uniqKey="Nichols C">C.G. Nichols</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Masia, R" uniqKey="Masia R">R. Masia</name></author><author><name sortKey="De Leon, D D" uniqKey="De Leon D">D.D. De Leon</name></author><author><name sortKey="Macmullen, C" uniqKey="Macmullen C">C. MacMullen</name></author><author><name sortKey="Mcknight, H" uniqKey="Mcknight H">H. McKnight</name></author><author><name sortKey="Stanley, C A" uniqKey="Stanley C">C.A. Stanley</name></author><author><name sortKey="Nichols, C G" uniqKey="Nichols C">C.G. Nichols</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nichols, C G" uniqKey="Nichols C">C.G. Nichols</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nichols, C G" uniqKey="Nichols C">C.G. Nichols</name></author><author><name sortKey="Shyng, S L" uniqKey="Shyng S">S.L. Shyng</name></author><author><name sortKey="Nestorowicz, A" uniqKey="Nestorowicz A">A. Nestorowicz</name></author><author><name sortKey="Glaser, B" uniqKey="Glaser B">B. Glaser</name></author><author><name sortKey="Clement, J P" uniqKey="Clement J">J.P. Clement</name></author><author><name sortKey="Gonzalez, G" uniqKey="Gonzalez G">G. Gonzalez</name></author><author><name sortKey="Aguilar Bryan, L" uniqKey="Aguilar Bryan L">L. Aguilar-Bryan</name></author><author><name sortKey="Permutt, M A" uniqKey="Permutt M">M.A. Permutt</name></author><author><name sortKey="Bryan, J" uniqKey="Bryan J">J. Bryan</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nichols, C G" uniqKey="Nichols C">C.G. Nichols</name></author><author><name sortKey="Singh, G K" uniqKey="Singh G">G.K. Singh</name></author><author><name sortKey="Grange, D K" uniqKey="Grange D">D.K. Grange</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Noma, A" uniqKey="Noma A">A. Noma</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Proks, P" uniqKey="Proks P">P. Proks</name></author><author><name sortKey="Shimomura, K" uniqKey="Shimomura K">K. Shimomura</name></author><author><name sortKey="Craig, T J" uniqKey="Craig T">T.J. Craig</name></author><author><name sortKey="Girard, C A" uniqKey="Girard C">C.A. Girard</name></author><author><name sortKey="Ashcroft, F M" uniqKey="Ashcroft F">F.M. Ashcroft</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Shyng, S" uniqKey="Shyng S">S. Shyng</name></author><author><name sortKey="Nichols, C G" uniqKey="Nichols C">C.G. Nichols</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Shyng, S L" uniqKey="Shyng S">S.L. Shyng</name></author><author><name sortKey="Nichols, C G" uniqKey="Nichols C">C.G. Nichols</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Standen, N B" uniqKey="Standen N">N.B. Standen</name></author><author><name sortKey="Quayle, J M" uniqKey="Quayle J">J.M. Quayle</name></author><author><name sortKey="Davies, N W" uniqKey="Davies N">N.W. Davies</name></author><author><name sortKey="Brayden, J E" uniqKey="Brayden J">J.E. Brayden</name></author><author><name sortKey="Huang, Y" uniqKey="Huang Y">Y. Huang</name></author><author><name sortKey="Nelson, M T" uniqKey="Nelson M">M.T. Nelson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Takagi, T" uniqKey="Takagi T">T. Takagi</name></author><author><name sortKey="Furuta, H" uniqKey="Furuta H">H. Furuta</name></author><author><name sortKey="Miyawaki, M" uniqKey="Miyawaki M">M. Miyawaki</name></author><author><name sortKey="Nagashima, K" uniqKey="Nagashima K">K. Nagashima</name></author><author><name sortKey="Shimada, T" uniqKey="Shimada T">T. Shimada</name></author><author><name sortKey="Doi, A" uniqKey="Doi A">A. Doi</name></author><author><name sortKey="Matsuno, S" uniqKey="Matsuno S">S. Matsuno</name></author><author><name sortKey="Tanaka, D" uniqKey="Tanaka D">D. Tanaka</name></author><author><name sortKey="Nishi, M" uniqKey="Nishi M">M. Nishi</name></author><author><name sortKey="Sasaki, H" uniqKey="Sasaki H">H. Sasaki</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tarasov, A I" uniqKey="Tarasov A">A.I. Tarasov</name></author><author><name sortKey="Nicolson, T J" uniqKey="Nicolson T">T.J. Nicolson</name></author><author><name sortKey="Riveline, J P" uniqKey="Riveline J">J.P. Riveline</name></author><author><name sortKey="Taneja, T K" uniqKey="Taneja T">T.K. Taneja</name></author><author><name sortKey="Baldwin, S A" uniqKey="Baldwin S">S.A. Baldwin</name></author><author><name sortKey="Baldwin, J M" uniqKey="Baldwin J">J.M. Baldwin</name></author><author><name sortKey="Charpentier, G" uniqKey="Charpentier G">G. Charpentier</name></author><author><name sortKey="Gautier, J F" uniqKey="Gautier J">J.F. Gautier</name></author><author><name sortKey="Froguel, P" uniqKey="Froguel P">P. Froguel</name></author><author><name sortKey="Vaxillaire, M" uniqKey="Vaxillaire M">M. Vaxillaire</name></author><author><name sortKey="Rutter, G A" uniqKey="Rutter G">G.A. Rutter</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tucker, S J" uniqKey="Tucker S">S.J. Tucker</name></author><author><name sortKey="Gribble, F M" uniqKey="Gribble F">F.M. Gribble</name></author><author><name sortKey="Zhao, C" uniqKey="Zhao C">C. Zhao</name></author><author><name sortKey="Trapp, S" uniqKey="Trapp S">S. Trapp</name></author><author><name sortKey="Ashcroft, F M" uniqKey="Ashcroft F">F.M. Ashcroft</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Van Bon, B W" uniqKey="Van Bon B">B.W. van Bon</name></author><author><name sortKey="Gilissen, C" uniqKey="Gilissen C">C. Gilissen</name></author><author><name sortKey="Grange, D K" uniqKey="Grange D">D.K. Grange</name></author><author><name sortKey="Hennekam, R C" uniqKey="Hennekam R">R.C. Hennekam</name></author><author><name sortKey="Kayserili, H" uniqKey="Kayserili H">H. Kayserili</name></author><author><name sortKey="Engels, H" uniqKey="Engels H">H. Engels</name></author><author><name sortKey="Reutter, H" uniqKey="Reutter H">H. Reutter</name></author><author><name sortKey="Ostergaard, J R" uniqKey="Ostergaard J">J.R. Ostergaard</name></author><author><name sortKey="Morava, E" uniqKey="Morava E">E. Morava</name></author><author><name sortKey="Tsiakas, K" uniqKey="Tsiakas K">K. Tsiakas</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Winquist, R J" uniqKey="Winquist R">R.J. Winquist</name></author><author><name sortKey="Heaney, L A" uniqKey="Heaney L">L.A. Heaney</name></author><author><name sortKey="Wallace, A A" uniqKey="Wallace A">A.A. Wallace</name></author><author><name sortKey="Baskin, E P" uniqKey="Baskin E">E.P. Baskin</name></author><author><name sortKey="Stein, R B" uniqKey="Stein R">R.B. Stein</name></author><author><name sortKey="Garcia, M L" uniqKey="Garcia M">M.L. Garcia</name></author><author><name sortKey="Kaczorowski, G J" uniqKey="Kaczorowski G">G.J. Kaczorowski</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Zhou, Q" uniqKey="Zhou Q">Q. Zhou</name></author><author><name sortKey="Garin, I" uniqKey="Garin I">I. Garin</name></author><author><name sortKey="Casta O, L" uniqKey="Casta O L">L. Castaño</name></author><author><name sortKey="Argente, J" uniqKey="Argente J">J. Argente</name></author><author><name sortKey="Mu Oz Calvo, M T" uniqKey="Mu Oz Calvo M">M.T. Muñoz-Calvo</name></author><author><name sortKey="Perez De Nanclares, G" uniqKey="Perez De Nanclares G">G. Perez de Nanclares</name></author><author><name sortKey="Shyng, S L" uniqKey="Shyng S">S.L. Shyng</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Zung, A" uniqKey="Zung A">A. Zung</name></author><author><name sortKey="Glaser, B" uniqKey="Glaser B">B. Glaser</name></author><author><name sortKey="Nimri, R" uniqKey="Nimri R">R. Nimri</name></author><author><name sortKey="Zadik, Z" uniqKey="Zadik Z">Z. Zadik</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Gen Physiol</journal-id><journal-id journal-id-type="iso-abbrev">J. Gen. Physiol</journal-id><journal-id journal-id-type="hwp">jgp</journal-id><journal-id journal-id-type="publisher-id">jgp</journal-id><journal-title-group><journal-title>The Journal of General Physiology</journal-title></journal-title-group><issn pub-type="ppub">0022-1295</issn><issn pub-type="epub">1540-7748</issn><publisher><publisher-name>The Rockefeller University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">26621776</article-id><article-id pub-id-type="pmc">4664827</article-id><article-id pub-id-type="publisher-id">201511495</article-id><article-id pub-id-type="doi">10.1085/jgp.201511495</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Articles</subject></subj-group></article-categories><title-group><article-title>Differential mechanisms of Cantú syndrome–associated gain of function mutations in the <italic>ABCC9</italic> (SUR2) subunit of the K<sub>ATP</sub> channel</article-title><alt-title alt-title-type="short">SUR2 disease mutant mechanisms</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Cooper</surname><given-names>Paige E.</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff1">2</xref><xref ref-type="author-notes" rid="fn1">*</xref></contrib><contrib contrib-type="author"><name><surname>Sala-Rabanal</surname><given-names>Monica</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff1">2</xref><xref ref-type="author-notes" rid="fn1">*</xref></contrib><contrib contrib-type="author"><name><surname>Lee</surname><given-names>Sun Joo</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff1">2</xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Nichols</surname><given-names>Colin G.</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff1">2</xref></contrib></contrib-group><aff id="aff1"><label>1</label><institution>Department of Cell Biology and Physiology</institution>, and<label>2</label><institution>Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, Saint Louis, MO 63110</institution></aff><author-notes><corresp>Correspondence to Colin G. Nichols: <email>cnichols@wustl.edu</email></corresp><fn id="fn1"><label>*</label><p>P.E. Cooper and M. Sala-Rabanal contributed equally to this paper.</p></fn></author-notes><pub-date pub-type="ppub"><month>12</month><year>2015</year></pub-date><volume>146</volume><issue>6</issue><fpage>527</fpage><lpage>540</lpage><history><date date-type="received"><day>10</day><month>8</month><year>2015</year></date><date date-type="accepted"><day>13</day><month>10</month><year>2015</year></date></history><permissions><copyright-statement>© 2015 Cooper et al.</copyright-statement><copyright-year>2015</copyright-year><license license-type="openaccess"><license-p>This article is distributed under the terms of an Attribution–Noncommercial–Share Alike–No Mirror Sites license for the first six months after the publication date (see <ext-link ext-link-type="uri" xlink:href="http://www.rupress.org/terms">http://www.rupress.org/terms</ext-link>). After six months it is available under a Creative Commons License (Attribution–Noncommercial–Share Alike 3.0 Unported license, as described at <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc-sa/3.0/">http://creativecommons.org/licenses/by-nc-sa/3.0/</ext-link>).</license-p></license></permissions><self-uri xlink:role="icon" xlink:href="JGP_201511495_thumb.gif"></self-uri><abstract abstract-type="precis"><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></abstract><abstract><p>Cantú syndrome (CS) is a rare disease characterized by congenital hypertrichosis, distinct facial features, osteochondrodysplasia, and cardiac defects. Recent genetic analysis has revealed that the majority of CS patients carry a missense mutation in <italic>ABCC9</italic>, which codes for the sulfonylurea receptor SUR2. SUR2 subunits couple with Kir6.x, inwardly rectifying potassium pore-forming subunits, to form adenosine triphosphate (ATP)-sensitive potassium (K<sub>ATP</sub>) channels, which link cell metabolism to membrane excitability in a variety of tissues including vascular smooth muscle, skeletal muscle, and the heart. The functional consequences of multiple uncharacterized CS mutations remain unclear. Here, we have focused on determining the functional consequences of three documented human CS-associated <italic>ABCC9</italic> mutations: human P432L, A478V, and C1043Y. The mutations were engineered in the equivalent position in rat SUR2A (P429L, A475V, and C1039Y), and each was coexpressed with mouse Kir6.2. Using macroscopic rubidium (<sup>86</sup>Rb<sup>+</sup>) efflux assays, we show that K<sub>ATP</sub> channels formed with P429L, A475V, or C1039Y mutants enhance K<sub>ATP</sub> activity compared with wild-type (WT) channels. We used inside-out patch-clamp electrophysiology to measure channel sensitivity to ATP inhibition and to MgADP activation. For P429L and A475V mutants, sensitivity to ATP inhibition was comparable to WT channels, but activation by MgADP was significantly greater. C1039Y-dependent channels were significantly less sensitive to inhibition by ATP or by glibenclamide, but MgADP activation was comparable to WT. The results indicate that these three CS mutations all lead to overactive K<sub>ATP</sub> channels, but at least two mechanisms underlie the observed gain of function: decreased ATP inhibition and enhanced MgADP activation.</p></abstract></article-meta></front></pmc><affiliations><list></list><tree><noCountry><name sortKey="Cooper, Paige E" sort="Cooper, Paige E" uniqKey="Cooper P" first="Paige E." last="Cooper">Paige E. Cooper</name><name sortKey="Lee, Sun Joo" sort="Lee, Sun Joo" uniqKey="Lee S" first="Sun Joo" last="Lee">Sun Joo Lee</name><name sortKey="Nichols, Colin G" sort="Nichols, Colin G" uniqKey="Nichols C" first="Colin G." last="Nichols">Colin G. Nichols</name><name sortKey="Sala Rabanal, Monica" sort="Sala Rabanal, Monica" uniqKey="Sala Rabanal M" first="Monica" last="Sala-Rabanal">Monica Sala-Rabanal</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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