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Li, V. DLD Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4831 (accessed on 26 September 2026).
Li V. DLD Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4831. Accessed September 26, 2026.
Li, Vivi. "DLD Gene" Encyclopedia, https://encyclopedia.pub/entry/4831 (accessed September 26, 2026).
Li, V. (2020, December 24). DLD Gene. In Encyclopedia. https://encyclopedia.pub/entry/4831
Li, Vivi. "DLD Gene." Encyclopedia. Web. 24 December, 2020.
DLD Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/dld

Dihydrolipoamide Dehydrogenase: The DLD gene provides instructions for making an enzyme called dihydrolipoamide dehydrogenase. 

genes

References

  1. Ambrus A, Adam-Vizi V. Molecular dynamics study of the structural basis ofdysfunction and the modulation of reactive oxygen species generation bypathogenic mutants of human dihydrolipoamide dehydrogenase. Arch Biochem Biophys.2013 Oct 15;538(2):145-55. doi: 10.1016/j.abb.2013.08.015.
  2. Biochemistry (fifth edition, 2002): The Formation of Acetyl Coenzyme A from Pyruvate
  3. Brautigam CA, Chuang JL, Tomchick DR, Machius M, Chuang DT. Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structuralbasis of disease-causing mutations. J Mol Biol. 2005 Jul 15;350(3):543-52.
  4. Cerna L, Wenchich L, Hansiková H, Kmoch S, Peskova K, Chrastina P, Brynda J,Zeman J. Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.Med Sci Monit. 2001 Nov-Dec;7(6):1319-25.
  5. Feigenbaum AS, Robinson BH. The structure of the human dihydrolipoamidedehydrogenase gene (DLD) and its upstream elements. Genomics. 1993Aug;17(2):376-81.
  6. Hong YS, Kerr DS, Liu TC, Lusk M, Powell BR, Patel MS. Deficiency ofdihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del).Analysis of a family and prenatal testing. Biochim Biophys Acta. 1997 Dec31;1362(2-3):160-8.
  7. Patel MS, Korotchkina LG, Sidhu S. Interaction of E1 and E3 components withthe core proteins of the human pyruvate dehydrogenase complex. J Mol Catal BEnzym. 2009 Nov 1;61(1-2):2-6.
  8. Saada A, Aptowitzer I, Link G, Elpeleg ON. ATP synthesis in lipoamidedehydrogenase deficiency. Biochem Biophys Res Commun. 2000 Mar 16;269(2):382-6.
  9. Shaag A, Saada A, Berger I, Mandel H, Joseph A, Feigenbaum A, Elpeleg ON.Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. Am J MedGenet. 1999 Jan 15;82(2):177-82.
  10. Shany E, Saada A, Landau D, Shaag A, Hershkovitz E, Elpeleg ON. Lipoamidedehydrogenase deficiency due to a novel mutation in the interface domain. BiochemBiophys Res Commun. 1999 Aug 19;262(1):163-6.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li
View Times: 1.0K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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