Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression (Q24676291)

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F Taroni

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P Cavadini

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C Cepanec

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M Brivet

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J M Saudubray

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J P Leroux

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F Demaugre

American Journal of Human Genetics

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language of work or name

English

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publication date

May 1996

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published in

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volume

58

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issue

5

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page(s)

971-8

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cites work

Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene

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cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase

7 April 2017

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Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

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Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations

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Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

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Cloning, sequencing, and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase II

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Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts

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Cloning, sequencing, and expression of a cDNA encoding rat liver carnitine palmitoyltransferase I. Direct evidence that a single polypeptide is involved in inhibitor interaction and catalytic function

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Regulation of hepatic fatty acid oxidation and ketone body production

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Malonyl-CoA binding site and the overt carnitine palmitoyltransferase activity reside on the opposite sides of the outer mitochondrial membrane

28 September 2017

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Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation

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Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies

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A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase

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Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects

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Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II.

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Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes

30 May 2018

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Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts. Tissue specific isoforms of CPT1?

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Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts

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12 December 2020

Cell-free translation of messenger RNAs from human muscle biopsies: a miniaturized tool for investigation of neuromuscular diseases

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12 December 2020

A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle

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12 December 2020

Inter-tissue and inter-species characteristics of the mitochondrial carnitine palmitoyltransferase enzyme system

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12 December 2020

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

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12 December 2020

Expression of a cDNA for rat liver carnitine palmitoyltransferase I in yeast establishes that catalytic activity and malonyl-CoA sensitivity reside in a single polypeptide

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12 December 2020

Use of a selective inhibitor of liver carnitine palmitoyltransferase I (CPT I) allows quantification of its contribution to total CPT I activity in rat heart. Evidence that the dominant cardiac CPT I isoform is identical to the skeletal muscle enzym

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12 December 2020

Fuel Homeostasis in Exercise

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12 December 2020