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Quoted phrase not found in phrase index: "Pyruvate dehydrogenase E3 deficiency"
Page 1
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. Odièvre MH, et al. Hum Mutat. 2005 Mar;25(3):323-4. doi: 10.1002/humu.9319. Hum Mutat. 2005. PMID: 15712224 Review.
This enzymatic complex is made up of three subunits (E1, encoded by PDHA1; E2, encoded by DLST; and E3, encoded by DLD). The E3 subunit is common to two other enzymatic complexes, namely pyruvate dehydrogenase complex (PDC) and branched-chain ketoacid …
This enzymatic complex is made up of three subunits (E1, encoded by PDHA1; E2, encoded by DLST; and E3, encoded by DLD). The E3 …
Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.
Haviv R, Zeharia A, Belaiche C, Haimi Cohen Y, Saada A. Haviv R, et al. Eur J Pediatr. 2014 Feb;173(2):243-5. doi: 10.1007/s00431-013-2153-x. Epub 2013 Aug 31. Eur J Pediatr. 2014. PMID: 23995961
The E3 subunit of the pyruvate dehydrogenase complex (dihydrolipoamide dehydrogenase/dihydrolipoyl dehydrogenase/DLD/lipoamide dehydrogenase/LAD), is a mitochondrial matrix enzyme and also a part of the branched-chain ketoacid dehydrog …
The E3 subunit of the pyruvate dehydrogenase complex (dihydrolipoamide dehydrogenase/dihydrolipoyl dehydrogen …
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.
Brassier A, Ottolenghi C, Boutron A, Bertrand AM, Valmary-Degano S, Cervoni JP, Chrétien D, Arnoux JB, Hubert L, Rabier D, Lacaille F, de Keyzer Y, Di Martino V, de Lonlay P. Brassier A, et al. Mol Genet Metab. 2013 May;109(1):28-32. doi: 10.1016/j.ymgme.2013.01.017. Epub 2013 Feb 1. Mol Genet Metab. 2013. PMID: 23478190
The causes of Reye-like syndrome are not completely understood. Dihydrolipoamide dehydrogenase (DLD or E3) deficiency is a rare metabolic disorder causing neurological or liver impairment. ...DLD and pyruvate dehydrogenase activities were respec …
The causes of Reye-like syndrome are not completely understood. Dihydrolipoamide dehydrogenase (DLD or E3) deficiency i …
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. Imbard A, et al. Mol Genet Metab. 2011 Dec;104(4):507-16. doi: 10.1016/j.ymgme.2011.08.008. Epub 2011 Aug 18. Mol Genet Metab. 2011. PMID: 21914562
BACKGROUND: Pyruvate dehydrogenase complex (PDHc) deficiencies are an important cause of primary lactic acidosis. Most cases result from mutations in the X-linked gene for the pyruvate dehydrogenase E1alpha subunit (PDHA1) while a few cases resu …
BACKGROUND: Pyruvate dehydrogenase complex (PDHc) deficiencies are an important cause of primary lactic acidosis. Most …
Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.
Pinheiro A, Silva MJ, Pavlu-Pereira H, Florindo C, Barroso M, Marques B, Correia H, Oliveira A, Gaspar A, Tavares de Almeida I, Rivera I. Pinheiro A, et al. Gene. 2016 Oct 15;591(2):417-24. doi: 10.1016/j.gene.2016.06.041. Epub 2016 Jun 22. Gene. 2016. PMID: 27343776
Human pyruvate dehydrogenase complex (PDC) catalyzes a key step in the generation of cellular energy and is composed by three catalytic elements (E1, E2, E3), one structural subunit (E3-binding protein), and specific regulatory elements, phosphatases a …
Human pyruvate dehydrogenase complex (PDC) catalyzes a key step in the generation of cellular energy and is composed by three …
Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells.
Vaubel RA, Rustin P, Isaya G. Vaubel RA, et al. J Biol Chem. 2011 Nov 18;286(46):40232-45. doi: 10.1074/jbc.M111.274415. Epub 2011 Sep 19. J Biol Chem. 2011. PMID: 21930696 Free PMC article.
Dihydrolipoamide dehydrogenase (DLD) is a multifunctional protein well characterized as the E3 component of the pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase complexes. ...However, under elevated oxidative stress, expression of DL …
Dihydrolipoamide dehydrogenase (DLD) is a multifunctional protein well characterized as the E3 component of the pyruvate …
Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA 3rd, Ficicioglu C, Hertecant J, Patel MS, Kerr DS. Okajima K, et al. Mol Genet Metab. 2008 Apr;93(4):371-80. doi: 10.1016/j.ymgme.2007.10.135. Epub 2008 Mar 4. Mol Genet Metab. 2008. PMID: 18164639
Pyruvate dehydrogenase complex (PDC) deficiencies are a major cause of primary lactic acidosis. Most cases result from mutations of the gene for the pyruvate dehydrogenase E1alpha subunit (PDHA1), with fewer cases resulting from mutations in gen …
Pyruvate dehydrogenase complex (PDC) deficiencies are a major cause of primary lactic acidosis. Most cases result from …
Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.
Robinson BH, MacKay N, Petrova-Benedict R, Ozalp I, Coskun T, Stacpoole PW. Robinson BH, et al. J Clin Invest. 1990 Jun;85(6):1821-4. doi: 10.1172/JCI114641. J Clin Invest. 1990. PMID: 2112155 Free PMC article.
Three patients with chronic lacticacidemia and deficiency of the pyruvate dehydrogenase complex demonstrated in cultured skin fibroblasts showed abnormalities on Western blotting with anti-pyruvate dehydrogenase complex antiserum which were not …
Three patients with chronic lacticacidemia and deficiency of the pyruvate dehydrogenase complex demonstrated in culture …
PDH E1beta deficiency with novel mutations in two patients with Leigh syndrome.
Quintana E, Mayr JA, García Silva MT, Font A, Tortoledo MA, Moliner S, Ozaez L, Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W, Briones P. Quintana E, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S339-43. doi: 10.1007/s10545-009-1343-1. Epub 2009 Nov 9. J Inherit Metab Dis. 2009. PMID: 19924563
Most cases of pyruvate dehydrogenase complex (PDHc) deficiency are attributable to mutations in the PDHA1 gene which encodes the E(1)alpha subunit, with few cases of mutations in the genes for E(3), E3BP (E(3) binding protein), E(2) and E(1)-phosphatase being …
Most cases of pyruvate dehydrogenase complex (PDHc) deficiency are attributable to mutations in the PDHA1 gene which en …
2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case.
Guffon N, Lopez-Mediavilla C, Dumoulin R, Mousson B, Godinot C, Carrier H, Collombet JM, Divry P, Mathieu M, Guibaud P. Guffon N, et al. J Inherit Metab Dis. 1993;16(5):821-30. doi: 10.1007/BF00714273. J Inherit Metab Dis. 1993. PMID: 8295396
Two new familial cases of 2-ketoglutarate dehydrogenase (2-KGD) deficiency are reported: a girl who died at 10 years and a boy, still alive at 4 years, born to consanguineous parents. ...The 2-KGD complex is composed of three separate enzymes: E1, E2 and E3. …
Two new familial cases of 2-ketoglutarate dehydrogenase (2-KGD) deficiency are reported: a girl who died at 10 years and a boy …