Characterization of a missense mutation at histidine-44 in a pyruvate dehydrogenase-deficient patient

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1586, Issue 1, 2002, Pages 32-42

  Jacobia, Scott J ^a   Korotchkina, Lioubov G ^a   Patel, Mulchand S ^a  

^a UNIVERSITY AT BUFFALO   (United States)

Author keywords

Inborn error; Pyruvate dehydrogenase; Pyruvate dehydrogenase complex deficiency; Site directed mutagenesis

Indexed keywords

COCARBOXYLASE; HISTIDINE; PYRUVATE DEHYDROGENASE;

ALPHA CHAIN; AMINO ACID SUBSTITUTION; ARTICLE; DEPHOSPHORYLATION; ENZYME BINDING; ENZYME LOCALIZATION; ENZYME PHOSPHORYLATION; ENZYME PURIFICATION; ENZYME SUBUNIT; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY;

ACETYLTRANSFERASES; BINDING SITES; DIHYDROLIPOAMIDE DEHYDROGENASE; DIHYDROLIPOYLLYSINE-RESIDUE ACETYLTRANSFERASE; ENZYME STABILITY; HUMANS; KINETICS; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; TEMPERATURE; THIAMINE PYROPHOSPHATE;

EID: 0037005958     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(01)00083-7     Document Type: Article

References (46)

1. Multienzyme complexes
2. Component X, an immunologically distinct polypeptide associated with mammalian pyruvate dehydrogenase multi-enzyme complex
3. Properties of a newly characterized protein of the bovine kidney pyruvate dehydrogenase complex
4. Molecular biology and biochemistry of pyruvate dehydrogenase complexes
5. Rapid intersite transfer of acetyl groups and movement of pyruvate dehydrogenase component in the kidney pyruvate dehydrogenase complex
6. Diversity of the pyruvate dehydrogenase kinase gene family in humans
7. Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human
8. Isoenzymes of pyruvate dehydrogenase phosphatase. DNA-derived amino acid sequences, expression and regulation
9. Sites of phosphorylation on pyruvate dehydrogenase from bovine kidney and heart
10. Mutagenesis studies of the phosphorylation sites of recombinant human pyruvate dehydrogenase. Site-specific regulation
11. Purification and properties of pyruvate dehydrogenase phosphatase from bovine heart and kidney
12. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
13. Pyruvate dehydrogenase E1 alpha deficiency: Males and females differ yet again
14. Ketonic diet in the management of pyruvate dehydrogenase deficiency
15. Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations
16. The regulation of ATP synthesis in fetal rat liver
17. Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency
18. Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia
19. Defective gene in lactic acidosis: Abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift
20. Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment
21. Overexpression and characterization of human tetrameric pyruvate dehydrogenase and its individual subunits
22. A general method for rapid site-directed mutagenesis using the polymerase chain reaction
23. Dihydrolipoamide dehydrogenase-binding protein of the human pyruvate dehydrogenase complex. DNA-derived amino acid sequence, expression, and reconstitution of the pyruvate dehydrogenase complex
24. Assembly and full functionality of recombinantly expressed dihydrolipoyl acetyltransferase component of the human pyruvate dehydrogenase complex
25. Probing the mechanism of inactivation of human pyruvate dehydrogenase by phosphorylation of three sites
26. Spectroscopic studies of the characterization of recombinant human dihydrolipoamide dehydrogenase and its site-directed mutants
27. Evidence for existence of tissue-specific regulation of the mammalian pyruvate dehydrogenase complex
28. Expression of pyruvate dehydrogenase isoforms during the aerobic/anaerobic transition in the development of the parasitic nematode Ascaris suum: Altered stoichiometry of phosphorylation/inactivation
29. Function of the nonidentical subunits of mammalian pyruvate dehydrogenase
30. Study of the kinetic mechanism of the pyruvate-2,6- dichlorophenolindophenol reductase activity of muscle pyruvate dehydrogenase
31. Site-specificity of four pyruvate dehydrogenase kinase isoenzymes towards the three phosphorylation sites of human pyruvate dehydrogenase
32. Cloning and expression in Escherichia coli of mature E1 beta subunit of bovine mitochondrial branched-chain alpha-keto acid dehydrogenase complex. Mapping of the E1 beta-binding region on E2
33. Active-site modification of mammalian pyruvate dehydrogenase by pyridoxal 5′-phosphate
34. Organization and functioning of muscle pyruvate dehydrogenase active centers
35. Identification of the essential cysteine residue in the active site of bovine pyruvate dehydrogenase
36. Localization of tryptophan residues in thiamine pyrophosphate-binding sites of pyruvate dehydrogenase from pigeon breast muscle
37. Identification of the tryptophan residue in the thiamin pyrophosphate binding site of mammalian pyruvate dehydrogenase
38. Involvement of α-cysteine-62 and β-tryptophan-135 in human pyruvate dehydrogenase catalysis
39. Arginine-239 in the beta subunit is at or near the active site of bovine pyruvate dehydrogenase
40. Functional expression of four PDH-E(1)alpha recombinant histidine mutants in a human fibroblast cell line with zero endogenous PDH complex activity
41. Characterization of point mutations in patients with pyruvate dehydrogenase deficiency: Role of methionine-181, proline-188, and arginine-349 in the alpha subunit
42. Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit
43. The alpha-ketoacid dehydrogenase complexes. Sequence similarity of rat pyruvate dehydrogenase with Escherichia coli and Azotobacter vinelandii alpha-ketoglutarate dehydrogenase
44. Novel separation and amino acid sequences of alpha and beta subunits of pig heart pyruvate dehydrogenase
45. Nucleotide and deduced amino acid sequence of the alpha subunit of yeast pyruvate dehydrogenase
46. Characterization of cDNA clones for the alpha subunit of pyruvate dehydrogenase from Ascaris suum