Functional and Structural Basis of Carnitine Palmitoyltransferase 1A Deficiency
نویسندگان
چکیده
منابع مشابه
Functional and Structural Basis of Carnitine Palmitoyltransferase
Carnitine palmitoyltransferase 1A (CPT1A) is the key regulatory enzyme of hepatic long-chain fatty acid -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. Heterolo...
متن کاملCarnitine palmitoyltransferase II deficiency
The authors investigated 32 patients with the muscle form of CPT II deficiency. Total carnitine palmitoyltransferase enzyme system (CPT) activity was normal but abnormally inhibited by malonyl-CoA, palmitoyl-CoA, and the detergents Triton X and Tween 20. Mutation analysis identified three described mutations (S113L, P50H, and F448L) and two novel mutations (M214T and Y479F). Using modeling tech...
متن کاملMolecular basis of hepatic carnitine palmitoyltransferase I deficiency.
Mitochondrial fatty acid beta-oxidation is important for energy production, which is stressed by the different defects found in this pathway. Most of the enzyme deficiencies causing these defects are well characterized at both the protein and genomic levels. One exception is carnitine palmitoyltransferase I (CPT I) deficiency, of which until now no mutations have been reported although the defe...
متن کاملCarnitine Palmitoyltransferase 1A Has a Lysine Succinyltransferase Activity
Lysine succinylation was recently identified as a post-translational modification in cells. However, the molecular mechanism underlying lysine succinylation remains unclear. Here, we show that carnitine palmitoyltransferase 1A (CPT1A) has lysine succinyltransferase (LSTase) activity in vivo and in vitro. Using a stable isotope labeling by amino acid in cell culture (SILAC)-based proteomics appr...
متن کاملCarnitine palmitoyltransferase 2 deficiency, malignant hyperthermia and anesthesia
Background Carnitine palmitoyltransferase (CPT) deficiencies are a common autosomal recessive disorder resulting in a defect in mitochondrial fatty acid oxidation. The CPT system is made up of two separated proteins located in the outer CPT1 and inner CPT2 mitochondrial membranes. CPT1 catalyses the formation of acylcarnitine from carnitine and long chain fatty acyl-CoA. Acylcarnitine then cros...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2003
ISSN: 0021-9258
DOI: 10.1074/jbc.m310130200