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Article

Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

The Journal of biological chemistry - 12 Dec 2003

Gobin Stéphanie, Thuillier Laure, Jogl Gerwald, Faye Audrey, Tong Liang, Chi Mihaiti, Bonnefont Jean-Paul, Girard Jean, Prip-Buus Carina

Abstract excerpt

Carnitine palmitoyltransferase 1A (CPT1A) is the key regulatory enzyme of hepatic long-chain fatty acid beta-oxidation. Human CPT1A deficiency is characterized by recurrent attacks of hypoketotic hypoglycemia. We presently analyzed at both the functional and structural levels five missense mutations identified in three CPT1A-deficient patients, namely A275T, A414V, Y498C, G709E, and G710E. Heterologous expression...

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PMID: 14517221
DOI: 10.1074/jbc.M310130200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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