| 1 | LGS, PDHA1D
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| Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency
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| Pirot N, Crahes M, Adle-Biassette H, Soares A, Bucourt M, Boutron A, Carbillon L, Mignot C, Trestard L, Bekri S, Laquerrière A.
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| J Neuropathol Exp Neurol. Mar;75(3):227-38. doi: 10.1093/jnen/nlv022. Epub 2016 Feb 9. 2016
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| 2 | PDHA1, PDHA1D
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| Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
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| Quintana E, Gort L, Busquets C, Navarro-Sastre A, Lissens W, Moliner S, Lluch M, Vilaseca MA, De Meirleir L, Ribes A, Briones P; PDH Working Group.
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| Clin Genet 77(5):474-82. Epub 2009 Dec 10.PMID: 20002461 2010
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| 3 | PDHA1, PDHA1D
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| Deletion at chromosomal band Xp22.12-Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis.
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| Singer BH, Iyer RK, Kerr DS, Ahmad A.
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| Mol Genet Metab 101(1):87-9. Epub 2010 Jun 11.PMID: 20591708 2010
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| 4 | PDHA1, PDHA1D
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| Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
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| Ostergaard E, Moller LB, Kalkanoglu-Sivri HS, Dursun A, Kibaek M, Thelle T, Christensen E, Duno M, Wibrand F.
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| J Inherit Metab Dis Inherit Metab Dis. 2009 Jun 11. [Epub ahead of print]PMID: 19517265 2009
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| 5 | PDHA1, PDHA1D
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| A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
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| Ridout CK, Keighley P, Krywawych S, Brown RM, Brown GK.
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| Hum Mutat 29(3):451.PMID: 18273899 2008
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| 6 | PDHA1, PDHA1D
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| Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype.
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| Okajima K, Warman ML, Byrne LC, Kerr DS.
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| Mol Genet Metab 87(2):162-8. Epub 2006 Jan 18. 2006
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| 7 | PDHA1, PDHA1D
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| Females with PDHA1 gene mutations: a diagnostic challenge.
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| Willemsen M, Rodenburg RJ, Teszas A, van den Heuvel L, Kosztolanyi G, Morava E.
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| Mitochondrion 6(3):155-9. Epub 2006 May 19.PMID: 16713755 2006
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| 8 | PDHA1, PDHA1D
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| A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
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| Tulinius M, Darin N, Wiklund LM, Holmberg E, Eriksson JE, Lissens W, De Meirleir L, Holme E.
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| Eur J Pediatr 164(2):99-103. Epub 2004 Nov 19. 2005
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| 9 | PDHA1, PDHA1D
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| First characterization of a large deletion of the PDHA 1 gene.
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| Brivet M, Moutard ML, Zater M, Venet L, Chenel C, Mine M, Legrand A.
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| Mol Genet Metab 86(4):456-61. Epub 2005 Oct 25. 2005
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| 10 | PDHA1, PDHA1D
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| Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.
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| Mine M, Brivet M, Touati G, Grabowski P, Abitbol M, Marsac C.
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| J Biol Chem 278(14):11768-72. Epub 2003 Jan 27. 2003
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| 11 | PDHA1, PDHA1D
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| Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
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| Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A.
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| Hum Mutat 15(3):209-19. 2000
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| 12 | PDHA1, PDHA1D
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| Sequential deletion of C-terminal amino acids of the E(1)alpha component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E(1)alpha(2)beta(2) tetramers: implications for patients with PDH deficiency.
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| Seyda A, McEachern G, Haas R, Robinson BH.
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| Hum Mol Genet 9(7):1041-8. 2000
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| 13 | PDHA1, PDHA1D
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| Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
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| Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A.
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| Hum Mutat 15(3):209-19. Review.
2000
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| 14 | LGS, PDHA1, PDHA1D
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| Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
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| Lissens W, Vreken P, Barth PG, Wijburg FA, Ruitenbeek W, Wanders RJ, Seneca S, Liebaers I, De Meirleir L.
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| Eur J Pediatr 158(10):853-7 1999
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| 15 | LGS, PDHA1, PDHA1D
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| Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.
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| Otero LJ, et al.
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| Hum Mutat 12 : 114-121. 1998
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| 16 | LGS, PDHA1, PDHA1D
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| Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.
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| Naito E, Ito M, Yokota I, Saijo T, Matsuda J, Osaka H, Kimura S, Kuroda Y.
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| J Inherit Metab Dis 20(4):539-48. 1997
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| 17 | LGS, PDHA1, PDHA1D
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| Mutation analysis of the pyruvate dehydrogenase E1alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
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| Lissens W, et al.
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| Hum Mutat 7 : 46-51. 1996
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| 18 | LGS, PDHA1, PDHA1D, PDHB
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| Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).
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| Kretzschmar HA, et al.
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| Pediatrics 79 : 370-373. 1987
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| 19 | LGS, PDHA1, PDHA1D
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| Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme.
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| McKay N, et al.
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| Eur J Pediatr 144 : 445-450. 1986
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| 20 | LGS, PDHA1, PDHA1D, PDHB
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| Biochemical studies with 28 children with lactic acidosis, in relation to Leighs' encephalomyelopathy.
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| Miyabayashi S, et al.
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| Eur J Pediatr 143 : 278-282. 1985
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