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Journal Abstract Search

226 related items for PubMed ID: 33092611

  • 1. Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
    Pavlu-Pereira H, Silva MJ, Florindo C, Sequeira S, Ferreira AC, Duarte S, Rodrigues AL, Janeiro P, Oliveira A, Gomes D, Bandeira A, Martins E, Gomes R, Soares S, Tavares de Almeida I, Vicente JB, Rivera I.
    Orphanet J Rare Dis; 2020 Oct 22; 15(1):298. PubMed ID: 33092611
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  • 2. Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency.
    Pavlu-Pereira H, Lousa D, Tomé CS, Florindo C, Silva MJ, de Almeida IT, Leandro P, Rivera I, Vicente JB.
    Biochimie; 2021 Apr 22; 183():78-88. PubMed ID: 33588022
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  • 3. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
    Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M.
    Mol Genet Metab; 2011 Dec 22; 104(4):507-16. PubMed ID: 21914562
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  • 4. Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function.
    Ducich NH, Mears JA, Bedoyan JK.
    J Inherit Metab Dis; 2022 May 22; 45(3):557-570. PubMed ID: 35038180
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  • 5. Folding and assembly defects of pyruvate dehydrogenase deficiency-related variants in the E1α subunit of the pyruvate dehydrogenase complex.
    Drakulic S, Rai J, Petersen SV, Golas MM, Sander B.
    Cell Mol Life Sci; 2018 Aug 22; 75(16):3009-3026. PubMed ID: 29445841
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  • 8. Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
    Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA, Ficicioglu C, Hertecant J, Patel MS, Kerr DS.
    Mol Genet Metab; 2008 Apr 22; 93(4):371-80. PubMed ID: 18164639
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  • 10. Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function.
    Gokcan H, Bedoyan JK, Isayev O.
    J Chem Inf Model; 2022 Jul 25; 62(14):3463-3475. PubMed ID: 35797142
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  • 11. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
    Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP.
    Hum Mutat; 2005 Mar 25; 25(3):323-4. PubMed ID: 15712224
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  • 14. Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.
    João Silva M, Pinheiro A, Eusébio F, Gaspar A, Tavares de Almeida I, Rivera I.
    Eur J Pediatr; 2009 Jan 25; 168(1):17-22. PubMed ID: 18398624
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  • 16. Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
    Coughlin CR, Krantz ID, Schmitt ES, Zhang S, Wong LJ, Kerr DS, Ganesh J.
    Mol Genet Metab; 2010 Jul 25; 100(3):296-9. PubMed ID: 20462777
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  • 19. Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.
    Tajir M, Arnoux JB, Boutron A, Elalaoui SC, De Lonlay P, Sefiani A, Brivet M.
    Eur J Med Genet; 2012 Oct 25; 55(10):535-40. PubMed ID: 22766002
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  • 20. Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
    Lissens W, Vreken P, Barth PG, Wijburg FA, Ruitenbeek W, Wanders RJ, Seneca S, Liebaers I, De Meirleir L.
    Eur J Pediatr; 1999 Oct 25; 158(10):853-7. PubMed ID: 10486093
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