{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T02:35:07Z","timestamp":1761964507294},"reference-count":0,"publisher":"American Diabetes Association","issue":"9","content-domain":{"domain":["diabetesjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[1994,9,1]]},"abstract":"<jats:p>The precise nature of the insulin-binding site of the insulin receptor (IR) has not been determined, although the importance of several regions of the \u03b1-subunit in insulin binding has been demonstrated. A naturally occurring mutation in a patient with severe insulin resistance that changes the Ser323 codon in the \u03b1-subunit of the IR to a leucine codon is associated with markedly impaired insulin binding to cells from the patient and to transfected cells expressing the mutant receptor. However, unlike other IR \u03b1-subunit mutations associated with decreased insulin binding, this mutation does not lead to a defect in posttranslational processing or cell-surface expression of IRs. Thus, the defect in insulin binding associated with the Leu323 mutant IR is a direct result of an alteration in the insulin-binding site. No natural IR mutation described thus far is associated with both decreased insulin binding and normal cell-surface expression of the mutant receptor. This study demonstrates the critical role that Ser323 of the IR \u03b1-subunit plays in insulin binding, either by forming part of the binding site or by stabilizing its conformation.<\/jats:p>","DOI":"10.2337\/diab.43.9.1096","type":"journal-article","created":{"date-parts":[[2013,9,19]],"date-time":"2013-09-19T17:22:06Z","timestamp":1379611326000},"page":"1096-1102","update-policy":"http:\/\/dx.doi.org\/10.2337\/ada-journal-policies","source":"Crossref","is-referenced-by-count":27,"title":["A Novel Human Insulin Receptor Gene Mutation Uniquely Inhibits Insulin Binding Without Impairing Posttranslational Processing"],"prefix":"10.2337","volume":"43","author":[{"given":"Paris","family":"Roach","sequence":"first","affiliation":[{"name":"Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health\u2008Bethesda, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yehiel","family":"Zick","sequence":"additional","affiliation":[{"name":"Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health\u2008Bethesda, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietro","family":"Formisano","sequence":"additional","affiliation":[{"name":"Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health\u2008Bethesda, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domenico","family":"Accili","sequence":"additional","affiliation":[{"name":"Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health\u2008Bethesda, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simeon I","family":"Taylor","sequence":"additional","affiliation":[{"name":"Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health\u2008Bethesda, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phillip","family":"Gorden","sequence":"additional","affiliation":[{"name":"Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health\u2008Bethesda, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1167","container-title":["Diabetes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.org\/diabetes\/diabetes\/article-pdf\/43\/9\/1096\/336988\/43-9-1096.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/diabetesjournals.org\/diabetes\/article-pdf\/43\/9\/1096\/336988\/43-9-1096.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,2]],"date-time":"2022-11-02T16:26:27Z","timestamp":1667406387000},"score":1,"resource":{"primary":{"URL":"https:\/\/diabetesjournals.org\/diabetes\/article\/43\/9\/1096\/9160\/A-Novel-Human-Insulin-Receptor-Gene-Mutation"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,9,1]]},"references-count":0,"journal-issue":{"issue":"9","published-print":{"date-parts":[[1994,9,1]]}},"URL":"https:\/\/doi.org\/10.2337\/diab.43.9.1096","relation":{},"ISSN":["0012-1797","1939-327X"],"issn-type":[{"value":"0012-1797","type":"print"},{"value":"1939-327X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,9,1]]}}}