{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T02:50:23Z","timestamp":1783133423494,"version":"3.54.6"},"reference-count":49,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T00:00:00Z","timestamp":1758844800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["GM 1109"],"award-info":[{"award-number":["GM 1109"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["R01DK056268"],"award-info":[{"award-number":["R01DK056268"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000968","name":"American Heart Association Inc","doi-asserted-by":"publisher","award":["25POST1373218"],"award-info":[{"award-number":["25POST1373218"]}],"id":[{"id":"10.13039\/100000968","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012819","name":"Egyptian Cultural and Educational Bureau","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012819","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["R01GM145784"],"award-info":[{"award-number":["R01GM145784"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jbc.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Biological Chemistry"],"published-print":{"date-parts":[[2025,11]]},"DOI":"10.1016\/j.jbc.2025.110779","type":"journal-article","created":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T17:16:34Z","timestamp":1758993394000},"page":"110779","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Identification and rescue of congenital hyperinsulinism-associated ABCC8 mutations that impair KATP channel trafficking"],"prefix":"10.1016","volume":"301","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7360-9309","authenticated-orcid":false,"given":"Assmaa","family":"ElSheikh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6876-8126","authenticated-orcid":false,"given":"Yi-Ying","family":"Kuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kara E.","family":"Boodhansingh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongying","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles A.","family":"Stanley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1225-8087","authenticated-orcid":false,"given":"Diva D.","family":"De Leon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Show-Ling","family":"Shyng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jbc.2025.110779_bib1","first-page":"101","article-title":"Molecular biology of adenosine triphosphate-sensitive potassium channels","volume":"20","author":"Aguilar-Bryan","year":"1999","journal-title":"Endocr. Rev."},{"key":"10.1016\/j.jbc.2025.110779_bib2","doi-asserted-by":"crossref","first-page":"693","DOI":"10.2337\/dbi22-0030","article-title":"KATP channels and the metabolic regulation of insulin secretion in health and disease: the 2022 banting medal for scientific achievement award lecture","volume":"72","author":"Ashcroft","year":"2023","journal-title":"Diabetes"},{"key":"10.1016\/j.jbc.2025.110779_bib3","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1038\/nature04711","article-title":"KATP channels as molecular sensors of cellular metabolism","volume":"440","author":"Nichols","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.jbc.2025.110779_bib4","first-page":"279","article-title":"International guidelines for the diagnosis and management of hyperinsulinism horm","volume":"97","author":"De Leon","year":"2024","journal-title":"Res. Paediatr."},{"key":"10.1016\/j.jbc.2025.110779_bib5","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2022.886552","article-title":"Congenital hyperinsulinism international: a community focused on improving the lives of people living with congenital hyperinsulinism","volume":"13","author":"Raskin","year":"2022","journal-title":"Front. Endocrinol. (Lausanne)"},{"key":"10.1016\/j.jbc.2025.110779_bib6","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2022.873254","article-title":"Congenital hyperinsulinism: current laboratory-based approaches to the genetic diagnosis of a heterogeneous disease","volume":"13","author":"Hewat","year":"2022","journal-title":"Front. Endocrinol. (Lausanne)"},{"key":"10.1016\/j.jbc.2025.110779_bib7","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2023.1161117","article-title":"KATP channel mutations in congenital hyperinsulinism: progress and challenges towards mechanism-based therapies","volume":"14","author":"ElSheikh","year":"2023","journal-title":"Front. Endocrinol."},{"key":"10.1016\/j.jbc.2025.110779_bib8","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1002\/humu.23995","article-title":"Update of variants identified in the pancreatic beta-cell K(ATP) channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes","volume":"41","author":"De Franco","year":"2020","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jbc.2025.110779_bib9","doi-asserted-by":"crossref","first-page":"E355","DOI":"10.1210\/jc.2012-2169","article-title":"Genotype and phenotype correlations in 417 children with congenital hyperinsulinism","volume":"98","author":"Snider","year":"2013","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jbc.2025.110779_bib10","doi-asserted-by":"crossref","first-page":"367","DOI":"10.2337\/db21-0755","article-title":"ATP-sensitive potassium channels in hyperinsulinism and type 2 diabetes: inconvenient paradox or new paradigm?","volume":"71","author":"Nichols","year":"2022","journal-title":"Diabetes"},{"key":"10.1016\/j.jbc.2025.110779_bib11","article-title":"K(ATP) channel function: more than meets the eye","volume":"3","author":"Shyng","year":"2022","journal-title":"Function (Oxf)"},{"key":"10.1016\/j.jbc.2025.110779_bib12","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2023.1283907","article-title":"Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism","volume":"14","author":"Lee","year":"2023","journal-title":"Front. Endocrinol. (Lausanne)"},{"key":"10.1016\/j.jbc.2025.110779_bib13","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbc.2022.101904","article-title":"Carbamazepine promotes surface expression of mutant Kir6.2-A28V ATP-Sensitive potassium channels by modulating Golgi retention and autophagy","volume":"298","author":"Lin","year":"2022","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.110779_bib14","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.2337\/diabetes.47.7.1145","article-title":"Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy","volume":"47","author":"Shyng","year":"1998","journal-title":"Diabetes"},{"key":"10.1016\/j.jbc.2025.110779_bib15","doi-asserted-by":"crossref","first-page":"1785","DOI":"10.1126\/science.272.5269.1785","article-title":"Adenosine diphosphate as an intracellular regulator of insulin secretion","volume":"272","author":"Nichols","year":"1996","journal-title":"Science"},{"key":"10.1016\/j.jbc.2025.110779_bib16","doi-asserted-by":"crossref","DOI":"10.1085\/jgp.202113046","article-title":"Mechanistic insights on KATP channel regulation from cryo-EM structures","volume":"155","author":"Driggers","year":"2023","journal-title":"J. Gen. Physiol."},{"key":"10.1016\/j.jbc.2025.110779_bib17","doi-asserted-by":"crossref","DOI":"10.1016\/j.mce.2019.110667","article-title":"Pharmacological chaperones of ATP-sensitive potassium channels: mechanistic insight from cryoEM structures","volume":"502","author":"Martin","year":"2020","journal-title":"Mol. Cell Endocrinol."},{"key":"10.1016\/j.jbc.2025.110779_bib18","doi-asserted-by":"crossref","DOI":"10.1016\/j.sbi.2023.102541","article-title":"K(ATP) channels in focus: progress toward a structural understanding of ligand regulation","volume":"79","author":"Martin","year":"2023","journal-title":"Curr. Opin. Struct. Biol."},{"key":"10.1016\/j.jbc.2025.110779_bib19","doi-asserted-by":"crossref","first-page":"11096","DOI":"10.1074\/jbc.M312810200","article-title":"Sulfonylureas correct trafficking defects of ATP-sensitive potassium channels caused by mutations in the sulfonylurea receptor","volume":"279","author":"Yan","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.110779_bib20","doi-asserted-by":"crossref","first-page":"33403","DOI":"10.1074\/jbc.M605195200","article-title":"Sulfonylureas correct trafficking defects of disease-causing ATP-sensitive potassium channels by binding to the channel complex","volume":"281","author":"Yan","year":"2006","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.110779_bib21","doi-asserted-by":"crossref","first-page":"20942","DOI":"10.1074\/jbc.M113.470948","article-title":"Carbamazepine as a novel small molecule corrector of trafficking-impaired ATP-sensitive potassium channels identified in congenital hyperinsulinism","volume":"288","author":"Chen","year":"2013","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.110779_bib22","article-title":"AI-Based discovery and CryoEM structural elucidation of a KAtp channel pharmacochaperone","author":"ElSheikh","year":"2024","journal-title":"eLife"},{"key":"10.1016\/j.jbc.2025.110779_bib23","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1007\/978-1-0716-3818-7_12","article-title":"Non-radioactive Rb(+) efflux assay for screening K(ATP) channel modulators","volume":"2796","author":"ElSheikh","year":"2024","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.jbc.2025.110779_bib24","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1126\/science.7716547","article-title":"Cloning of the \u03b2 cell high-affinity sulfonylurea receptor: a regulator of insulin secretion","volume":"268","author":"Aguilar-Bryan","year":"1995","journal-title":"Science"},{"key":"10.1016\/j.jbc.2025.110779_bib25","doi-asserted-by":"crossref","first-page":"29122","DOI":"10.1074\/jbc.274.41.29122","article-title":"Membrane topology of the amino-terminal region of the sulfonylurea receptor","volume":"274","author":"Raab-Graham","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.110779_bib26","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/S0896-6273(00)81146-0","article-title":"Molecular basis for K(ATP) assembly: transmembrane interactions mediate association of a K+ channel with an ABC transporter","volume":"26","author":"Schwappach","year":"2000","journal-title":"Neuron"},{"key":"10.1016\/j.jbc.2025.110779_bib27","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/S0896-6273(00)80708-4","article-title":"A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane KATP channels","volume":"22","author":"Zerangue","year":"1999","journal-title":"Neuron"},{"key":"10.1016\/j.jbc.2025.110779_bib28","doi-asserted-by":"crossref","first-page":"21971","DOI":"10.1074\/jbc.M116.749366","article-title":"Pharmacological correction of trafficking defects in ATP-sensitive potassium channels caused by sulfonylurea receptor 1 mutations","volume":"291","author":"Martin","year":"2016","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.110779_bib29","doi-asserted-by":"crossref","first-page":"2339","DOI":"10.2337\/db07-0150","article-title":"Congenital hyperinsulinism\u2013associated ABCC8 mutations that cause defective trafficking of ATP-Sensitive K+ channels: identification and rescue","volume":"56","author":"Yan","year":"2007","journal-title":"Diabetes"},{"key":"10.1016\/j.jbc.2025.110779_bib30","doi-asserted-by":"crossref","first-page":"2882","DOI":"10.1073\/pnas.051499698","article-title":"Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy","volume":"98","author":"Cartier","year":"2001","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jbc.2025.110779_bib31","doi-asserted-by":"crossref","first-page":"7951","DOI":"10.1074\/jbc.M807012200","article-title":"Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure","volume":"284","author":"Pratt","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.110779_bib32","doi-asserted-by":"crossref","first-page":"2502","DOI":"10.1038\/s41467-024-46751-5","article-title":"Structure of an open K(ATP) channel reveals tandem PIP(2) binding sites mediating the Kir6.2 and SUR1 regulatory interface","volume":"15","author":"Driggers","year":"2024","journal-title":"Nat. Commun."},{"key":"10.1016\/j.jbc.2025.110779_bib33","doi-asserted-by":"crossref","first-page":"1138","DOI":"10.1126\/science.282.5391.1138","article-title":"Membrane phospholipid control of nucleotide sensitivity of KATP channels","volume":"282","author":"Shyng","year":"1998","journal-title":"Science"},{"key":"10.1016\/j.jbc.2025.110779_bib34","doi-asserted-by":"crossref","first-page":"2334","DOI":"10.1016\/S0006-3495(00)76779-8","article-title":"The kinetic and physical basis of K(ATP) channel gating: toward a unified molecular understanding","volume":"78","author":"Enkvetchakul","year":"2000","journal-title":"Biophys. J."},{"key":"10.1016\/j.jbc.2025.110779_bib35","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1085\/jgp.201010557","article-title":"N-terminal transmembrane domain of SUR1 controls gating of Kir6.2 by modulating channel sensitivity to PIP2","volume":"137","author":"Pratt","year":"2011","journal-title":"J. Gen. Physiol."},{"key":"10.1016\/j.jbc.2025.110779_bib36","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1002\/ajmg.c.31737","article-title":"Congenital hyperinsulinism disorders: genetic and clinical characteristics","volume":"181","author":"Rosenfeld","year":"2019","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"10.1016\/j.jbc.2025.110779_bib39","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/humu.20838","article-title":"Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism","volume":"30","author":"Flanagan","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jbc.2025.110779_bib40","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.2337\/db10-1631","article-title":"Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the beta-cell sulfonylurea receptor SUR1","volume":"60","author":"Macmullen","year":"2011","journal-title":"Diabetes"},{"key":"10.1016\/j.jbc.2025.110779_bib41","doi-asserted-by":"crossref","first-page":"1848","DOI":"10.1016\/j.celrep.2019.04.050","article-title":"The structural basis for the binding of repaglinide to the pancreatic K(ATP) channel","volume":"27","author":"Ding","year":"2019","journal-title":"Cell Rep."},{"key":"10.1016\/j.jbc.2025.110779_bib42","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.24149","article-title":"Cryo-EM structure of the ATP-sensitive potassium channel illuminates mechanisms of assembly and gating","volume":"6","author":"Martin","year":"2017","journal-title":"Elife"},{"key":"10.1016\/j.jbc.2025.110779_bib43","doi-asserted-by":"crossref","DOI":"10.1016\/j.jmb.2022.167789","article-title":"Ligand-mediated structural dynamics of a Mammalian pancreatic K(ATP) channel","volume":"434","author":"Sung","year":"2022","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.jbc.2025.110779_bib44","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.52775","article-title":"Nucleotide inhibition of the pancreatic ATP-sensitive K+ channel explored with patch-clamp fluorometry","volume":"9","author":"Usher","year":"2020","journal-title":"Elife"},{"key":"10.1016\/j.jbc.2025.110779_bib45","doi-asserted-by":"crossref","first-page":"2770","DOI":"10.1038\/s41467-022-30430-4","article-title":"Structural insights into the mechanism of pancreatic K(ATP) channel regulation by nucleotides","volume":"13","author":"Wang","year":"2022","journal-title":"Nat. Commun."},{"key":"10.1016\/j.jbc.2025.110779_bib46","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2112267118","article-title":"Molecular structure of an open human K(ATP) channel","volume":"118","author":"Zhao","year":"2021","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jbc.2025.110779_bib47","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.pharmthera.2006.03.002","article-title":"Human ether-a-go-go-related (HERG) gene and ATP-sensitive potassium channels as targets for adverse drug effects","volume":"112","author":"Zunkler","year":"2006","journal-title":"Pharmacol. Ther."},{"key":"10.1016\/j.jbc.2025.110779_bib48","doi-asserted-by":"crossref","DOI":"10.1016\/j.neuropharm.2020.107966","article-title":"Mechanisms of action of currently used antiseizure drugs","volume":"168","author":"Sills","year":"2020","journal-title":"Neuropharmacology"},{"key":"10.1016\/j.jbc.2025.110779_bib49","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.46417","article-title":"Mechanism of pharmacochaperoning in a mammalian K(ATP) channel revealed by cryo-EM","volume":"8","author":"Martin","year":"2019","journal-title":"Elife"},{"key":"10.1016\/j.jbc.2025.110779_bib50","doi-asserted-by":"crossref","first-page":"1813","DOI":"10.1093\/hmg\/5.11.1813","article-title":"Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews","volume":"5","author":"Nestorowicz","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jbc.2025.110779_bib51","doi-asserted-by":"crossref","first-page":"41270","DOI":"10.1074\/jbc.M106555200","article-title":"Transmembrane topology of the sulfonylurea receptor SUR1","volume":"276","author":"Conti","year":"2001","journal-title":"J. Biol. Chem."}],"container-title":["Journal of Biological Chemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925825026316?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925825026316?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T23:33:53Z","timestamp":1773272033000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021925825026316"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":49,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["S0021925825026316"],"URL":"https:\/\/doi.org\/10.1016\/j.jbc.2025.110779","relation":{},"ISSN":["0021-9258"],"issn-type":[{"value":"0021-9258","type":"print"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification and rescue of congenital hyperinsulinism-associated ABCC8 mutations that impair KATP channel trafficking","name":"articletitle","label":"Article Title"},{"value":"Journal of Biological Chemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jbc.2025.110779","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc on behalf of American Society for Biochemistry and Molecular Biology\u00e9","name":"copyright","label":"Copyright"}],"article-number":"110779"}}