Pyruvate dehydrogenase E3 binding protein deficiency

Human Genetics

Volumn 110, Issue 2, 2002, Pages 187-191

  Brown, Ruth M ^a   Head, Rosie A ^a   Brown, Garry K ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; DINUCLEOTIDE; PYRUVATE DEHYDROGENASE E1 ALPHA SUBUNIT; PYRUVATE DEHYDROGENASE E3 BINDING PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; HUMAN; HUMAN CELL; LACTIC ACIDOSIS; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; PYRUVATE DEHYDROGENASE E1 ALPHA SUBUNIT DEFICIENCY; PYRUVATE DEHYDROGENASE E3 BINDING PROTEIN DEFICIENCY; SURVIVAL;

ADOLESCENT; BASE SEQUENCE; CELLS, CULTURED; CHILD; CONSANGUINITY; FEMALE; FIBROBLASTS; HUMANS; MALE; PEPTIDES; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRANSCRIPTION, GENETIC;

EID: 0036487988     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-001-0665-3     Document Type: Article

References (22)

1. Aral B, Benelli C, Ait Ghezala G, Amessou M, Fouque F, Maunoury C, Creau N, Kamoun P, Marsac C (1997) Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p11, in congenital lactic acidosis. Am J Hum Genet 61:1318-1326
2. Bowker Kinley MM, Davis WI, Wu P, Harris RA, Popov KM (1998) Evidence for existence of tissue-specific regulation of the mammalian pyruvate dehydrogenase complex. Biochem J 329:191-196
3. Brown GK, Otero LJ, LeGris M, Brown RM (1994) Pyruvate dehydrogenase deficiency. J Med Genet 31:875-879
4. Brown RM, Otero LJ, Brown GK (1997) Transfection screening for primary defects in the pyruvate dehydrogenase E1alpha subunit gene. Hum Mol Genet 6:1361-1367
5. Brunak S, Englebrecht JH, Knudsen S (1991) Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 220:49-65
6. De Meirleir L, Lissens W, Benelli C, Marsac C, De Klerk J, Scholte J, Van Diggelen O, Kleijer W, Seneca S, Liebaers I (1998) Pyruvate dehydrogenase complex deficiency and absence of subunit X. J Inherit Metab Dis 21:9-16
7. Geoffroy V, Fouque F, Benelli C, Poggi F, Saudubray JM, Lissens W, De Meirleir L, Marsac C, Lindsay JG, Sanderson SJ (1996) Defect in the X-lipolyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia. Pediatrics 97:267-272
8. Harris RA, Bowker Kinley MM, Wu P, Jeng J, Popov KM (1997) Dihydrolipoamide dehydrogenase-binding protein of the human pyruvate dehydrogenase complex. DNA-derived amino acid sequence, expression, and reconstitution of the pyruvate dehydrogenase complex. J Biol Chem 272:19746-19751
9. Huang B, Gudi R, Wu P, Harris RA, Hamilton J, Popov KM (1998) Isoenzymes of pyruvate dehydrogenase phosphatase. DNA-derived amino acid sequences, expression, and regulation. J Biol Chem 273:17680-17688
10. Ling M, McEachern G, Seyda A, MacKay N, Scherer SW, Bratinova S, Beatty B, Giovannucci Uzielli ML, Robinson BH (1998) Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency. Hum Mol Genet 7:501-505
11. Marsac C, Stansbie D, Bonne G, Cousin J, Jehenson P, Benelli C, Leroux JP, Lindsay G (1993) Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy. J Pediatr 123:915-920
12. McCartney RG, Sanderson SJ, Lindsay JG (1997) Refolding and reconstitution studies on the transacetylase-protein X (E2/X) subcomplex of the mammalian pyruvate dehydrogenase complex: Evidence for specific binding of the dihydrolipoamide dehydrogenase component to sites on reassembled E2. Biochemistry 36:6819-6826
13. O'Neill JP, Rogan PK, Cariello N, Nicklas JA (1998) Mutations that alter RNA splicing in the human HPRT gene: A review of the spectrum. Mutat Res 411:179-214
14. Patel MS, Roche TE (1990) Molecular biology and biochemistry of pyruvate dehydrogenase complexes. FASEB J 4:3224-3233
15. Robinson BH (1995) Lactic acidemia (disorders of pyruvate carboxylase, pyruvate dehydrogenase) In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Basis of Inherited Disease. McGraw Hill, New York, pp 1479-1499
16. Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet DOI 10.1007/s00439-001-0615-0
17. Robinson BH, MacKay N, Petrova BR, Ozalp I, Coskun T, Stacpoole PW (1990) Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia. J Clin Invest 85:1821-1824
18. Sanderson SJ, Miller C, Lindsay JG (1996) Stoichiometry, organisation and catalytic function of protein X of the pyruvate dehydrogenase complex from bovine heart. Eur J Biochem 236:68-77
19. Senapathy P, Shapiro MB, Harris NL (1990) Splice junctions, brach point sites and exons: Sequence statistics, identification and applications to genome project. Methods Enzymol 183:252-278
20. Shapiro MB, Senapathy P (1987) RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7174
21. Stephens RM, Schneider TD (1992) Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites. J Mol Biol 228:1124-1136
22. Wicking CA, Scholem RD, Hunt SM, Brown GK (1986) Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase. Biochem J 239:89-96