{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:27:41Z","timestamp":1777868861109,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Enzyme"],"abstract":"<jats:p>The insulin receptor, though understood in fine molecular detail, remains problematic\nwith regards to its mechanism(s) of cellular signalling. To better understand the\nnormal mechanisms of plasma membrane signalling by insulin, we studied the family of a\npatient with insulin resistance, hypoglycemia and leprechaunism. Skin fibroblasts were cultured\nfrom the proband and his parents. High-affinity insulin binding to the proband\u2019s cells\nwas absent. Both parents\u2019 fibroblasts showed high-affinity insulin binding intermediate\nbetween the controls and the proband. Thus impaired binding conformed to an autosomal\nrecessive pattern of inheritance. The transport of neutral amino acids by the proband\u2019s cells\nwas comparable to controls and was insulin-sensitive. By contrast, hexose transport by the\nproband\u2019s fibroblasts was very high and insulin-insensitive. This increased uptake was due to\nan increased number of glucose transporters on the plasma membrane and to a posttranslational\nmechanism. Similar levels of glucose transporter mRNA were observed in control and\nmutant cells. Thus, this inborn error of the insulin receptor offers unique insight into a\nregulatory signal by its a subunit which, when altered, results in constitutively increased\nglucose transport.<\/jats:p>","DOI":"10.1159\/000469204","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:22:23Z","timestamp":1502472143000},"page":"184-193","source":"Crossref","is-referenced-by-count":0,"title":["Impaired Insulin Binding and Excess Glucose Transport in\nFibroblasts from a Patient with Leprechaunism"],"prefix":"10.1159","author":[{"given":"Louis J.","family":"Elsas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Longo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,8,11]]},"container-title":["Enzyme"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000469204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:47:28Z","timestamp":1777553248000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000469204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000469204","archive":["Portico"],"relation":{},"ISSN":["0013-9432","2504-2564"],"issn-type":[{"value":"0013-9432","type":"print"},{"value":"2504-2564","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,11]]}}}