Molecular characterization of L-CPT I deficiency in six patients: Insights into function of the native enzyme

Journal of Lipid Research

Volumn 42, Issue 7, 2001, Pages 1134-1142

  Brown, N F ^a   Mullur, R S ^a   Subramanian, I ^a   Esser, V ^a   Bennett, M J ^a   Saudubray, J M ^a   Feigenbaum, A S ^a   Kobari, J A ^a   Macleod, P M ^a   McGarry, J D ^a   Cohen, J C ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Acylcarnitine; Fasting; Fatty acid oxidation; Hypoketotic hypoglycemia; Malonyl CoA

Indexed keywords

ACYLCARNITINE; CARNITINE PALMITOYLTRANSFERASE; MALONYL COENZYME A;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CELL STRAIN COS1; CLINICAL ARTICLE; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HYPOGLYCEMIA; INFANT; LIVER; MALE; MITOCHONDRION; MUSCLE; MUSCLE CRAMP; PAIN; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN FIBROBLAST; WESTERN BLOTTING;

ADULT; ANIMALS; CARNITINE O-PALMITOYLTRANSFERASE; CHILD; COS CELLS; DNA, COMPLEMENTARY; ENZYME STABILITY; FASTING; FEMALE; FIBROBLASTS; HUMANS; HYPOGLYCEMIA; INFANT; MALE; MALONYL COENZYME A; MUTATION; REFERENCE VALUES; SKIN; TRANSFECTION;

EID: 0034947983     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (42)

1. The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis
2. Observations on the affinity for carnitine, and malonyl-CoA sensitivity, of carnitine palmitoyltransferase I in animal and human tissues. Demonstration of the presence of malonyl-CoA in non-hepatic tissues of the rat
3. Human skeletal muscle malonyl-CoA at rest and during prolonged submaximal exercise
4. Are the beta-cell signaling molecules malonyl-CoA and cystolic long-chain acyl-CoA implicated in multiple tissue defects of obesity and NIDDM?
5. 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
6. Expression of a cDNA isolated from rat brown adipose tissue and heart identifies the product as the muscle isoform of carnitine palmitoyltransferase I (M-CPT I). M-CPT I is the predominant CPT I isoform expressed in both white (epididymal) and brown adipocytes
7. cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase
8. Human liver mitochondrial carnitine palmitoyltransferase I: Characterization of its cDNA and chromosomal localization and partial analysis of the gene
9. Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B)
10. High expression of a novel carnitine palmitoyltransferase I like protein in rat brown adipose tissue and heart: Isolation and characterization of its cDNA clone
11. Cloning, sequencing, and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase II
12. 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
13. Roles of the N- and C-terminal domains of carnitine palmitoyltransferase I isoforms in malonyl-CoA sensitivity of the enzymes: Insights from expression of chimeric proteins and mutation of conserved histidine residues
14. Deletion of the conserved first 18 N-terminal amino acid residues in rat liver carnitine palmitoyltransferase I abolishes malonyl-CoA sensitivity and binding
15. 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
16. A single amino acid change (substitution of glutamate 3 with alanine) in the N-terminal region of rat liver carnitine palmitoyltransferase I abolishes malonyl-CoA inhibition and high affinity binding
17. Catalytically important domains of rat carnitine palmitoyltransferase II as determined by site-directed mutagenesis and chemical modification. Evidence for a critical histidine residue
18. The conserved serine-threonine-serine motif of the carnitine acyltransferases is involved in carnitine binding and transition-state stabilization: A site-directed mutagenesis study
19. Identification by mutagenesis of conserved arginine and tryptophan residues in rat liver carnitine palmitoyltransferase I important for catalytic activity
20. Mature carnitine palmitoyltransferase I retains the N-terminus of the nascent protein in rat liver
21. Evidence that both the acyl-CoA- and malonyl-CoA binding sites of mitochondrial overt carnitine palmitoyltransferase (CPT I) are exposed on the cytosolic face of the outer membrane
22. Topology of carnitine palmitoyltransferase I in the mitochondrial outer membrane
23. Rationale and application of fatty acid oxidation inhibitors in treatment of diabetes mellitus
24. Hypoglycemic effects of a novel fatty acid oxidation inhibitor in rats and monkeys
25. Regulation of fatty, acid oxidation in the mammalian heart in health and disease
26. Regulation of myocardial carbohydrate metabolism under normal and ischaemic conditions. Potential for pharmacological interventions
27. Fatty acid oxidation in the reperfused ischemic heart
28. Carnitine palmitoyltransferase deficiencies
29. Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency
30. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency
31. Molecular resolution of carnitine palmitoyltransferase I deficiency in a Hutterite family
32. Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: Two distinct entities
33. Characterization of the mitochondrial carnitine palmitoyltransferase enzyme system. II. Use of detergents and antibodies
34. Protein measurement with the Folin phenol reagent
35. Mouse white adipocytes and 3T3-L1 cells display an anomalous pattern of carnitine palmitoyltransferase (CPT) I isoform expression during differentiation. Inter-tissue and inter-species expression of CPT I and CPT II enzymes
36. Mammalian cytoplasmic actins are the products of at least two genes and differ in primary structure in at least 25 identified positions from skeletal muscle actins
37. Functional characterization of mitochondrial carnitine palmitoyltransferases I and II expressed in the yeast Pichia pastoris
38. Sequencing and functional expression of the malonyl-CoA-sensitive carnitine palmitoyltransferase from Drosophila melanogaster
39. Reconstitution of purified, active and malonyl-CoA-sensitive rat liver carnitine palmitoyltransferase I: Relationship between membrane environment and malonyl-CoA sensitivity
40. Functional studies of yeast-expressed human heart muscle carnitine palmitoyltransferase I
41. Reconstitution of highly expressed human heart muscle carnitine palmitoyltransferase I
42. Yonetani-Theorell analysis of hepatic carnitine palmitoyltransferase-I inhibition indicates two distinct inhibitory binding sites