Complementation Analysis of Carnitine Palmitoyltransferase I and II Defects
نویسندگان
چکیده
منابع مشابه
Carnitine 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 کاملCrystal structure of rat carnitine palmitoyltransferase II (CPT-II).
Carnitine palmitoyltransferase II (CPT-II) has a crucial role in the beta-oxidation of long-chain fatty acids in mitochondria. We report here the crystal structure of rat CPT-II at 1.9A resolution. The overall structure shares strong similarity to those of short- and medium-chain carnitine acyltransferases, although detailed structural differences in the active site region have a significant im...
متن کاملExpression of liver carnitine palmitoyltransferase I and II genes during development in the rat.
The enzyme activity and the expression (protein and mRNA concentrations) of genes encoding for hepatic carnitine palmitoyl-transferases (CPT) I and II were studied during neonatal development, in response to nutritional state at weaning and during the fed-starved transition in adult rats. The activity, the protein concentration and the level of mRNA encoding CPT I are low in foetal-rat liver an...
متن کاملMalonyl-CoA and carnitine palmitoyltransferase I: an expanding partnership.
Inhibition of mitochondrial carnitine palmitoyltransferase I (CPT I) by malonyl-CoA, the product of the acetyl-CoA carboxylase reaction, was first recognized in 1977 during the course of studies on hepatic ketogenesis and its regulation [ l ] . What emerged from that work was that with carbohydrate feeding (high insulin/low glucagon) the liver is actively engaged in fatty acid biosynthesis, the...
متن کاملStabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II
OBJECTIVE Muscle carnitine palmitoyltransferase (CPT) II deficiency, the most common defect of lipid metabolism in muscle, is characterized by attacks of myoglobinuria without persistent muscle weakness. METHODS His6-N-hCPT2 (wild-type) and His6-N-hCPT2/S113L (variant) were produced recombinantly in prokaryotic host and characterized according to their functional and regulatory properties. ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1996
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199610000-00005