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2. First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex. Rouillac C; Aral B; Fouque F; Marchant D; Saudubray JM; Dumez Y; Lindsay G; Abitbol M; Dufier JL; Marsac C; Benelli C Prenat Diagn; 1999 Dec; 19(12):1160-4. PubMed ID: 10590436 [TBL] [Abstract][Full Text] [Related]
3. Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency. Ling M; McEachern G; Seyda A; MacKay N; Scherer SW; Bratinova S; Beatty B; Giovannucci-Uzielli ML; Robinson BH Hum Mol Genet; 1998 Mar; 7(3):501-5. PubMed ID: 9467010 [TBL] [Abstract][Full Text] [Related]
4. Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit. De Meirleir L; Lissens W; Vamos E; Liebaers I Hum Genet; 1992 Mar; 88(6):649-52. PubMed ID: 1551669 [TBL] [Abstract][Full Text] [Related]
5. Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift. Endo H; Hasegawa K; Narisawa K; Tada K; Kagawa Y; Ohta S Am J Hum Genet; 1989 Mar; 44(3):358-64. PubMed ID: 2537010 [TBL] [Abstract][Full Text] [Related]
6. A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene. Dey R; Mine M; Desguerre I; Slama A; Van Den Berghe L; Brivet M; Aral B; Marsac C Ann Neurol; 2003 Feb; 53(2):273-7. PubMed ID: 12557299 [TBL] [Abstract][Full Text] [Related]
7. Purification of the pyruvate dehydrogenase multienzyme complex of Zymomonas mobilis and identification and sequence analysis of the corresponding genes. Neveling U; Klasen R; Bringer-Meyer S; Sahm H J Bacteriol; 1998 Mar; 180(6):1540-8. PubMed ID: 9515924 [TBL] [Abstract][Full Text] [Related]
8. Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene. Praphanphoj V; Sacksteder KA; Gould SJ; Thomas GH; Geraghty MT Mol Genet Metab; 2001 Apr; 72(4):336-42. PubMed ID: 11286508 [TBL] [Abstract][Full Text] [Related]
9. Nucleotide sequence of a cDNA for the dihydrolipoamide acetyltransferase component of human pyruvate dehydrogenase complex. Thekkumkara TJ; Ho L; Wexler ID; Pons G; Liu TC; Patel MS FEBS Lett; 1988 Nov; 240(1-2):45-8. PubMed ID: 3191998 [TBL] [Abstract][Full Text] [Related]
10. Cloning and characterization of the dihydrolipoamide S-acetyltransferase subunit of the plastid pyruvate dehydrogenase complex (E2) from Arabidopsis. Mooney BP; Miernyk JA; Randall DD Plant Physiol; 1999 Jun; 120(2):443-52. PubMed ID: 10364395 [TBL] [Abstract][Full Text] [Related]
12. Sequence and organization of genes encoding enzymes involved in pyruvate metabolism in Mycoplasma capricolum. Zhu PP; Peterkofsky A Protein Sci; 1996 Aug; 5(8):1719-36. PubMed ID: 8844861 [TBL] [Abstract][Full Text] [Related]
13. Structural dependence of post-translational modification and reductive acetylation of the lipoyl domain of the pyruvate dehydrogenase multienzyme complex. Wallis NG; Perham RN J Mol Biol; 1994 Feb; 236(1):209-16. PubMed ID: 8107106 [TBL] [Abstract][Full Text] [Related]
14. Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. Sacksteder KA; Biery BJ; Morrell JC; Goodman BK; Geisbrecht BV; Cox RP; Gould SJ; Geraghty MT Am J Hum Genet; 2000 Jun; 66(6):1736-43. PubMed ID: 10775527 [TBL] [Abstract][Full Text] [Related]
15. Human sulfotransferase SULT1C1: cDNA cloning, tissue-specific expression, and chromosomal localization. Her C; Kaur GP; Athwal RS; Weinshilboum RM Genomics; 1997 May; 41(3):467-70. PubMed ID: 9169148 [TBL] [Abstract][Full Text] [Related]
16. Conservation of primary structure in the lipoyl-bearing and dihydrolipoyl dehydrogenase binding domains of mammalian branched-chain alpha-keto acid dehydrogenase complex: molecular cloning of human and bovine transacylase (E2) cDNAs. Lau KS; Griffin TA; Hu CW; Chuang DT Biochemistry; 1988 Mar; 27(6):1972-81. PubMed ID: 2837277 [TBL] [Abstract][Full Text] [Related]
17. Two lipoyl domains in the dihydrolipoamide acetyltransferase chain of the pyruvate dehydrogenase multienzyme complex of Streptococcus faecalis. Allen AG; Perham RN FEBS Lett; 1991 Aug; 287(1-2):206-10. PubMed ID: 1908789 [TBL] [Abstract][Full Text] [Related]
18. Cloning and nucleotide sequence of the gene for protein X from Saccharomyces cerevisiae. Behal RH; Browning KS; Hall TB; Reed LJ Proc Natl Acad Sci U S A; 1989 Nov; 86(22):8732-6. PubMed ID: 2682658 [TBL] [Abstract][Full Text] [Related]
19. Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene. Dey R; Aral B; Abitbol M; Marsac C Mol Genet Metab; 2002 Aug; 76(4):344-7. PubMed ID: 12208141 [TBL] [Abstract][Full Text] [Related]
20. Disruption and mutagenesis of the Saccharomyces cerevisiae PDX1 gene encoding the protein X component of the pyruvate dehydrogenase complex. Lawson JE; Behal RH; Reed LJ Biochemistry; 1991 Mar; 30(11):2834-9. PubMed ID: 2007123 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]