Crystal structure of rat carnitine palmitoyltransferase II (CPT-II)

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Crystal 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...

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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...

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Stabilization 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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Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy.

BACKGROUND Carnitine palmitoyltransferase II (CPT II) deficiency is an important cause of recurrent rhabdomyolysis in children and adults. Current treatment includes dietary fat restriction, with increased carbohydrate intake and exercise restriction to avoid muscle pain and rhabdomyolysis. METHODS CPT II enzyme assay, DNA mutation analysis, quantitative analysis of acylcarnitines in blood an...

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Increased muscle carnitine palmitoyltransferase II mRNA after increased contractile activity.

The capacity of skeletal muscle to oxidize fatty acids increases with endurance training. The oxidation of long-chain fatty acids occurs in mitochondria and is initiated by a carnitine-dependent transport step in which three enzymes help fatty acyl groups enter the matrix compartment. The purpose of this study was to determine whether pretranslational regulation of one of these three enzymes, c...

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ژورنال

عنوان ژورنال: Biochemical and Biophysical Research Communications

سال: 2006

ISSN: 0006-291X

DOI: 10.1016/j.bbrc.2006.06.006