{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:26:07Z","timestamp":1777868767325,"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 Jacob-Monod model for the regulation of enzymic activity has been used in the\nanalysis of some types of metabolic disease. Three lesions have been considered: (l)loss of\nallosteric inhibition of phosphofructokinase by citrate in the condition of lipomatosis; (2) failure\nof covalent modification of triglyceride lipase from inactive to active forms in the condition of\ntriglyceride storage disease, and (3) failure of repression of HMG-CoA reductase by a mutant\nlow-density lipoprotein in a new variant* of familial hypercholesterolaemia. Defects in enzymic\nregulation are contrasted with catalytic defects (the inborn errors); the major difference being an\naccumulation of a normal metabolic end-product of an unregulated pathway, rather than accumulation\nof an unusual intermediary metabolite as in the inborn errors.<\/jats:p>","DOI":"10.1159\/000458589","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:10:50Z","timestamp":1502471450000},"page":"274-288","source":"Crossref","is-referenced-by-count":1,"title":["Molecular Biology of Metabolic Disease:\nDefects in the Regulation of Enzymic Activity"],"prefix":"10.1159","author":[{"given":"D.J.","family":"Galton","sequence":"first","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\/000458589","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:39:19Z","timestamp":1777552759000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000458589"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000458589","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]]}}}