MinireviewCarnitine Palmitoyltransferase Deficiencies
References (166)
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Mature carnitine palmitoyltransferase I retains the N-terminus of the nascent protein in rat liver
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The N-terminal domain of rat liver carnitine palmitoyltransferase I mediates import into the outer mitochondrial membrane and is essential for activity and malonyl-CoA sensitivity
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Expression of a cDNA isolated from rat brown adipose tissue and heart identifies the product as the muscle isoform of carnitine palmitoyltransferase 1 (M-CPT1): M-CPT1 is the predominant CPT1 isoform expressed in both white (epididymal) and brown adipocytes
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Mitochondrial carnitine palmitoyl transferase I isoform switching in the developing rat heart
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Normal muscle CPTI and CPT II activities in hepatic-presentation patients with CPT I deficiency in fibroblasts. Tissue specific isoforms of CPT I
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Inter-tissue and inter-species characteristics of the mitochondrial carnitine palmitoyltransferase enzyme system
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Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I
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Assignment of the human carnitine palmitoyltransferase II gene (CPT I) to chromosome 1p32
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Co-regulation of tissue-specific alternative human carnitine palmitoyltransferase I b gene promoters by fatty acid enzyme substrate
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Fasting hypoglycemia resulting from hepatic deficiency
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Atypical features of the hepatic form of CPT deficiency in a Hutterite family
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Carnitine palmityl transferase deficiency
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Recurrent myoglobinuria and muscle carnitine palmityl transferase deficiency
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Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes
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Familial recurrent rhabdomyolysis due to carnitine palmitoyltransferase deficiency
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Deficiency of carnitine palmitoyltransferase in transformed lymphoblasts from a patient having a deficiency of carnitine palmitoyltransferase in skeletal muscle
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Heterogeneity of carnitine palmitoyltransferase deficiency
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A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle
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Immunoquantitation of carnitine pamitoyltransferase in skeletal muscle of 31 patients
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Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency
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The mitochondrial carnitine palmitoyltransferase system
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Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects
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Human liver mitochondrial carnitine palmitoyltransferase I characterization of its cDNA and chromosomal localization and partial analysis of the gene
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Malonyl-CoA binding site and the overt carnitine palmitoyltransferase activity reside on the opposite sides of the outer mitochondrial membrane
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More direct evidence for a malonyl-CoA-carnitine palmitoyltransferase I interaction as a key event in pancreatic β-cell signaling
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Comparison of the active sites of the purified carnitine acyltransferases from peroxisomes and mitochondria by using a reaction-intermediate analogue
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cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase
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Carnitine palmitoyltransferase 1, the site of inhibition of hepatic fatty acid oxidation by malonyl-CoA
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Mouse white adipocytes and 3T3-L1 cells display an anomalous pattern of carnitine palmitoyltransferase (CPT) I isoform expression during differentiation
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Hepatic and muscular presentations of carnitine palmitoyltransferase deficiency: Two distinct entities
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Carnitine palmitoyltransferase II deficiency: Structure of the gene and characterisation of two novel disease-causing mutations
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Expression of liver carnitine palmitoyltransferase I and II genes during development in the rat
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Expression of novel isoforms of carnitine palmitoyltransferase I (CPT-I) generated by alternative splicing of the CPT-Ib gene
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Carnitine palmitoyltransferase 1 deficiency presenting as a Reye-like syndrome without hypoglycemia
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Deficiency of carnitine palmitoyltransferase I
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Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase 1 deficiency
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Renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency
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Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency
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Cited by (206)
A different perspective into clinical symptoms in CPT I deficiency
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2020, Seminars in Cell and Developmental BiologyNRF2 activates growth factor genes and downstream AKT signaling to induce mouse and human hepatomegaly
2020, Journal of Hepatology
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