| 1 | DLD
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| Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells.
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| Vaubel RA, Rustin P, Isaya G.
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| J Biol Chem. 286(46):40232-45. 2011
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| 2 | DLD, DLDD
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| Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.
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| Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH.
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| Am J Med Genet A 140(14):1542-52. 2006
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| 3 | DBT, PDHX, DLD
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| How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex.
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| Ciszak EM, Makal A, Hong YS, Vettaikkorumakankauv AK, Korotchkina LG, Patel MS.
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| J Biol Chem 281(1):648-55. Epub 2005 Nov 1. 2006
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| 4 | DBT, PDHX, DLD
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| Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex.
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| Brautigam CA, Wynn RM, Chuang JL, Machius M, Tomchick DR, Chuang DT.
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| Structure 14(3):611-21. Epub 2006 Jan 26. 2006
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| 5 | DLD
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| Activity of human dihydrolipoamide dehydrogenase is largely reduced by mutation at isoleucine-51 to alanine.
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| Kim H.
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| J Biochem Mol Biol 39(2):223-7. 2006
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| 6 | DLD, DLDD
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| A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
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| Odievre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rotig A, Rustin P, Bonnefont JP.
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| Hum Mutat 25(3):323-4. Review. 2005
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| 7 | DLD
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| Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations.
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| Brautigam CA, Chuang JL, Tomchick DR, Machius M, Chuang DT.
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| J Mol Biol 350(3):543-52. 2005
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| 8 | DLD, DLDD
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| Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence.
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| Elpeleg ON, Shaag A, Glustein JZ, Anikster Y, Joseph A, Saada A.
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| Hum Mutat 10(3):256-7. 1997
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| 9 | DLD, DLDD
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| Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.
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| Hong YS, et al.
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| Hum Mol Genet 5 : 1925-1930. 1996
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| 10 | DLD
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| The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements.
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| Feigenbaum AS, et al.
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| Genomics 17 : 376-381. 1993
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| 11 | DLD, DLDD
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| Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.
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| Liu TC, Kim H, Arizmendi C, Kitano A, Patel MS.
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| Proc Natl Acad Sci U S A 90(11):5186-90. 1993
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| 12 | DLD
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| Characterization of two site-specifically mutated human dihydrolipoamide dehydrogenase (His-452-Gln and Glu-457-Gln).
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| Kim H, et al.
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| J Biol Chem 267 : 5128-5132. 1992
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| 13 | DLD
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| Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31-q32.
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| Scherer SW, et al.
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| Cytogenet Cell Genet 56 : 176-177. 1991
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| 14 | DLD, DLDD, PDHA1
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| Isolated and combined deficiencies of the alpha-keto-acid dehydrogenase complexes.
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| Robinson BH, Chun K, Mackay N, Otulakowski G, Petrova-Benedict R, Willard H.
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| Ann NY Acad Sci 573 : 337-346. 1990
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| 15 | DLD
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| Gene for lipoamide dehydrogenase maps to human chromosome 7.
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| Otulakowski G, Robinson BH, Willard HF.
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| Somat Cell Mol Genet 14 : 411-414. 1988
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| 16 | DLD
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| Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes.
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| Pons G, Raefsky-Estrin C, Carothers DJ, Pepin RA, Javed AA, Jesse BW, Ganapathi MK, Samols D, Patel MS.
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| Proc Natl Acad Sci U S A. 85(5):1422-6. 1988
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| 17 | DLD, DLDD
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| Pyruvate dehydrogenase subcomplex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria.
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| Matuda S, et al.
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| Clin Chim Acta 140 : 59-64. 1984
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| 18 | DLD, DLDD
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| Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect : dihydrolipoyl dehydrogenase deficiency.
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| Munnich A, et al.
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| Acta Paediatr Scand 71 : 167-171. 1982
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| 19 | DLD, DLDD
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| The genetic heterogeneity of lactic acidosis : occurence of a recognisable inborn error of metabolism in a pediatric population with lactic acidosis.
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| Robinson BH, et al.
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| Pediatr Res 14 : 956-962. 1980
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| 20 | DLD, DLDD
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| A defect in branch-chain amino acid metabolism in a patient with congenital lactic acidosis due to a dihydrolipoyl dehydrogenase deficiency.
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| Taylor J, et al.
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| Pediatr Res 12 : 60-62. 1978
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