Publications

Ambrus A et al. Molecular dynamics study of the structural basis of dysfunction and the modulation of reactive oxygen species generation by pathogenic mutants of human dihydrolipoamide dehydrogenase. Arch Biochem Biophys. 2013;538(2):145-55. PMID: 24012808.

Ambrus A et al. Human dihydrolipoamide dehydrogenase (E3) deficiency: Novel insights into the structural basis and molecular pathomechanism. Neurochem Int. 2018;117:5-14. PMID: 28579060.

Ambrus A et al. Structural alterations by five disease-causing mutations in the low-pH conformation of human dihydrolipoamide dehydrogenase (hLADH) analyzed by molecular dynamics – Implications in functional loss and modulation of reactive oxygen species generation by pathogenic hLADH forms. Biochem Biophys Rep. 2015;2:50-56.  PMID: 29594200.

Ambrus A et al. Formation of reactive oxygen species by human and bacterial pyruvate and 2-oxoglutarate dehydrogenase multienzyme complexes reconstituted from recombinant components. Free Radical Biol Med. 2015;89:642-50. PMID: 26456061.

Ambrus A et al. Stimulation of reactive oxygen species generation by disease-causing mutations of lipoamide dehydrogenase. Hum Mol Genet. 2011;20(15):2984–95. PMID: 21558426.

Ambrus A et al. Inhibition of the alpha-ketoglutarate dehydrogenase-mediated reactive oxygen species generation by lipoic acid. J Neurochem. 2009;109:222-29. PMID: 19393031.

Ambrus A et al. Structural alterations induced by ten disease-causing mutations of human dihydrolipoamide dehydrogenase analyzed by hydrogen/deuterium-exchange mass spectrometry: Implications for the structural basis of E3 deficiency. Biochim Biophys Acta-Mol Basis Dis. 2016;1862(11):2098-09. PMID: 27544700.

Babady N et al. Cryptic proteolytic activity of dihydrolipoamide dehydrogenase. P Natl Acad Sci USA. 2007;104(15):6158-63. PMID: 17404228.

Barak N et al. Lipoamide dehydrogenase deficiency: a newly discovered cause of acute hepatitis in adults. J Hepatol. 1998;29(3):482-84. PMID: 9764998.

Brassier A et al. Dihydrolipoamide dehydrogenase deficiency: A still overlooked cause of recurrent acute liver failure and Reye-like syndrome. Mol Genet Metab. 2013;109(1):28-32. PMID: 23478190.

Brautigam C A et al. Crystal structure of human dihydrolipoamide dehydrogenase: NAD(+)/NADH binding and the structural basis of disease-causing mutations. J Mol Biol. 2005;350(3):543-52. PMID: 15946682.

Brautigam C A et al. Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex. Structure. 2006;14(3):611-21. PMID: 16442803.

Cameron J M et al. Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. Am J Med Genet A. 2006;140(14):1542-52. PMID: 16770810.

Carrozzo R et al. Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2. Mitochondrion. 2014;18:49-57. PMID: 25251739.

Cerna L et al. Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency. Med Sci Monitor. 2001;7(6):1319-25. PMID: 11687750.

Grafakou O et al. Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. Eur J Pediatr. 2003;162(10):714-18. PMID: 12925875z.

Hong Y S et al. Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency. Hum Mol Genet. 1996;5(12):1925-30. PMID: 8968745.

Hong Y S et al. Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del) - Analysis of a family and prenatal testing. Biochim Biophys Acta-Mol Basis Dis. 1997;1362(2-3):160-68. PMID: 9540846.

Hong Y S et al. Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: Possible beneficial effect of vitamin therapy. J Inherit Metab Dis. 2003;26(8):816-18. PMID: 14765544.

Kim H. Characterization of Two Naturally Occurring Mutations (Gly-101 Deletion and Glu-340 to Lys Substitution) in Human Dihydrolipoamide Dehydrogenase of a Patient with Metabolic Acidosis. Bull Korean Chem Soc. 2012;33(8):2477-78.

Kim H & Patel M S. Characterization of 2 site specifically mutated human dihydrolipoamide dehydrogenases (His-452-Gln and Glu-457-Gln). J Biol Chem. 1992;267(8):5128-32. PMID: 1347528.

Liu T C et al. Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. P Natl Acad Sci USA, 1993;90(11):5186-90. PMID: 8506365.

Liu T C et al. Spectroscopic studies of the characterization of recombinant human dihydrolipoamide dehydrogenase and its side-directed mutants. J Biol Chem. 1995;270(26):15545-50. PMID: 7797549.

Odievre M H et al. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. Hum Mutat. 2005;25(3):323-24. PMID: 15712224.

Quinonez S C et al. Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency. Pediatr Neurol. 2013;48(1):67-72. PMID: 23290025.

Quinonez S C & Thoene J G (2014). Dihydrolipoamide Dehydrogenase Deficiency. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. Stephens & A. Amemiya (Eds.), GeneReviews® 1993-2020 (pp. 1-37). Seattle (WA): University of Washington. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK220444/.

Quintana E et al. Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain. J Inherit Metab Dis. 2010;33:S315-19. PMID: 20652410.

Rapoport M et al. TAT-mediated delivery of LAD restores pyruvate dehydrogenase complex activity in the mitochondria of patients with LAD deficiency. Mol Ther. 2008;16(4):691-97. PMID: 18362926.

Rapoport M et al. Successful TAT-mediated enzyme replacement therapy in a mouse model of mitochondrial E3 deficiency. J Mol Med. 2011;89(2):161-170. PMID: 21079907.

Sakaguchi Y et al.  Dihydrolipoyl dehydrogenase deficiency - a therapeutic trial with branched-chain amino acid restriction. Eur J Pediatr. 1986;145(4):271-74. PMID: 3769994.

Shaag A et al. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. Am J Med Genet. 1999;82(2):177-82. PMID: 9934985.

Shany E et al. Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain. Biochem Bioph Res Co. 1999;262(1):163-66. PMID: 10448086.

Szabo E et al. Crystal structures of the disease-causing D444V mutant and the relevant wild type human dihydrolipoamide dehydrogenase. Free Radical Bio Med. 2018;124:214-20. PMID: 29908278.

Szabo E et al. Underlying molecular alterations in human dihydrolipoamide dehydrogenase deficiency revealed by structural analyses of disease-causing enzyme variants. Hum Mol Genet. 2019;28(20):3339-54. PMID: 31334547.

Vaubel R A et al. Mutations in the Dimer Interface of Dihydrolipoamide Dehydrogenase Promote Site-specific Oxidative Damages in Yeast and Human Cells. J Biol Chem. 2011;286(46):40232-45. PMID: 21930696.

Yuan L et al. Characterization of Two Naturally Occurring Mutations Close to Cofactors in Human Dihydrolipoamide Dehydrogenase. Bull Korean Chem Soc. 2008;29(12):2327-28.

Yuan L et al. Characterization of a Naturally Occurring Mutation (Arg-460 to Gly) Close to FAD in Human Dihydrolipoamide Dehydrogenase. Bull Korean Chem Soc. 2010;31(12):3511-12.

Yuan L et al. Characterization of a Naturally Occurring Mutation (Ile-358 to Thr) in Human Dihydrolipoamide Dehydrogenase of a Patient with Leigh Syndrome. Bull Korean Chem Soc. 2012;33(5):1445-46.