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Journal Abstract Search

831 related items for PubMed ID: 15712224

  • 21. Distinct modes of recognition of the lipoyl domain as substrate by the E1 and E3 components of the pyruvate dehydrogenase multienzyme complex.
    Fries M, Stott KM, Reynolds S, Perham RN.
    J Mol Biol; 2007 Feb 09; 366(1):132-9. PubMed ID: 17157320
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  • 22. Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.
    Cerna L, Wenchich L, Hansiková H, Kmoch S, Peskova K, Chrastina P, Brynda J, Zeman J.
    Med Sci Monit; 2001 Feb 09; 7(6):1319-25. PubMed ID: 11687750
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  • 23. Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity.
    Fujii T, Van Coster RN, Old SE, Medori R, Winter S, Gubits RM, Matthews PM, Brown RM, Brown GK, Dahl HH.
    Ann Neurol; 1994 Jul 09; 36(1):83-9. PubMed ID: 8024267
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  • 24. The human malaria parasite Plasmodium falciparum possesses two distinct dihydrolipoamide dehydrogenases.
    McMillan PJ, Stimmler LM, Foth BJ, McFadden GI, Müller S.
    Mol Microbiol; 2005 Jan 09; 55(1):27-38. PubMed ID: 15612914
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  • 25. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.
    Bénit P, Beugnot R, Chretien D, Giurgea I, De Lonlay-Debeney P, Issartel JP, Corral-Debrinski M, Kerscher S, Rustin P, Rötig A, Munnich A.
    Hum Mutat; 2003 Jun 09; 21(6):582-6. PubMed ID: 12754703
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  • 26. Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing.
    Hong YS, Kerr DS, Liu TC, Lusk M, Powell BR, Patel MS.
    Biochim Biophys Acta; 1997 Dec 31; 1362(2-3):160-8. PubMed ID: 9540846
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  • 27. Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype.
    Okajima K, Warman ML, Byrne LC, Kerr DS.
    Mol Genet Metab; 2006 Feb 31; 87(2):162-8. PubMed ID: 16412675
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  • 28. Conjugative mapping of pyruvate, 2-ketoglutarate, and branched-chain keto acid dehydrogenase genes in Pseudomonas putida mutants.
    Sykes PJ, Menard J, McCully V, Sokatch JR.
    J Bacteriol; 1985 Apr 31; 162(1):203-8. PubMed ID: 3980435
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  • 29. Human dihydrolipoamide dehydrogenase (E3) deficiency: Novel insights into the structural basis and molecular pathomechanism.
    Ambrus A, Adam-Vizi V.
    Neurochem Int; 2018 Jul 31; 117():5-14. PubMed ID: 28579060
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  • 30. Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.
    Dahl HH, Brown GK, Brown RM, Hansen LL, Kerr DS, Wexler ID, Patel MS, De Meirleir L, Lissens W, Chun K.
    Hum Mutat; 1992 Jul 31; 1(2):97-102. PubMed ID: 1301207
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  • 31. Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency.
    Cardozo AK, De Meirleir L, Liebaers I, Lissens W.
    Pediatr Res; 2000 Dec 31; 48(6):748-53. PubMed ID: 11102541
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  • 32. Brain protein and alpha-ketoglutarate dehydrogenase complex activity in Alzheimer's disease.
    Mastrogiacoma F, Lindsay JG, Bettendorff L, Rice J, Kish SJ.
    Ann Neurol; 1996 May 31; 39(5):592-8. PubMed ID: 8619544
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  • 34. [Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene].
    Blanco-Barca O, Gomez-Lado C, Rodrigo-Saez E, Curros-Novos C, Briones-Godino P, Eiris-Punal J, Castro-Gago M.
    Rev Neurol; 1996 May 31; 43(6):341-5. PubMed ID: 16981164
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