Gene Review:
DLD - dihydrolipoamide dehydrogenase
Homo sapiens
Synonyms:
DLDD, DLDH, Dihydrolipoamide dehydrogenase, Dihydrolipoyl dehydrogenase, mitochondrial, E3, ...
Milne,
Shi,
Rosenthal,
Sunshine,
Domingo,
Wu,
Brooks,
Perham,
Henderson,
Subramaniam,
Brautigam,
Chuang,
Tomchick,
Machius,
Chuang,
Potter,
Thomson,
Hamblin,
Richards,
Lindsay,
Stevenson,
Brautigam,
Wynn,
Chuang,
Machius,
Tomchick,
Chuang,
Kim,
Kim,
Brown,
Gordon,
Lee,
Caudy,
Hardy,
Haroutunian,
Blass,
Ciszak,
Makal,
Hong,
Vettaikkorumakankauv,
Korotchkina,
Patel,
- Proteinase 3 and dihydrolipoamide dehydrogenase (E3) are major autoantigens in hepatitis C virus (HCV) infection. Wu, Y.Y., Hsu, T.C., Chen, T.Y., Liu, T.C., Liu, G.Y., Lee, Y.J., Tsay, G.J. Clin. Exp. Immunol. (2002)
- Immunoreactive levels of alpha-ketoglutarate dehydrogenase subunits in Friedreich's ataxia and spinocerebellar ataxia type 1. Mastrogiacomo, F., LaMarche, J., Dozić, S., Lindsay, G., Bettendorff, L., Robitaille, Y., Schut, L., Kish, S.J. Neurodegeneration : a journal for neurodegenerative disorders, neuroprotection, and neuroregeneration. (1996)
- Autoepitope mapping and reactivity of autoantibodies to the dihydrolipoamide dehydrogenase-binding protein (E3BP) and the glycine cleavage proteins in primary biliary cirrhosis. Dubel, L., Tanaka, A., Leung, P.S., Van de Water, J., Coppel, R., Roche, T., Johanet, C., Motokawa, Y., Ansari, A., Gershwin, M.E. Hepatology (1999)
- Asparagine-473 residue is important to the efficient function of human dihydrolipoamide dehydrogenase. Kim, H. J. Biochem. Mol. Biol. (2005)
- Activity of human dihydrolipoamide dehydrogenase is reduced by mutation at threonine-44 of FAD-binding region to valine. Kim, H. J. Biochem. Mol. Biol. (2002)
- Association of the dihydrolipoamide dehydrogenase gene with Alzheimer's disease in an Ashkenazi Jewish population. Brown, A.M., Gordon, D., Lee, H., Caudy, M., Hardy, J., Haroutunian, V., Blass, J.P. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2004)
- Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. Grafakou, O., Oexle, K., van den Heuvel, L., Smeets, R., Trijbels, F., Goebel, H.H., Bosshard, N., Superti-Furga, A., Steinmann, B., Smeitink, J. Eur. J. Pediatr. (2003)
- Structure of pressinoic acid: the cyclic moiety of vasopressin. Langs, D.A., Smith, G.D., Stezowski, J.J., Hughes, R.E. Science (1986)
- Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease. Indo, Y., Kitano, A., Endo, F., Akaboshi, I., Matsuda, I. J. Clin. Invest. (1987)
- Molecular architecture and mechanism of an icosahedral pyruvate dehydrogenase complex: a multifunctional catalytic machine. Milne, J.L., Shi, D., Rosenthal, P.B., Sunshine, J.S., Domingo, G.J., Wu, X., Brooks, B.R., Perham, R.N., Henderson, R., Subramaniam, S. EMBO J. (2002)
- Sequences directing dihydrolipoamide dehydrogenase (E3) binding are located on the 2-oxoglutarate dehydrogenase (E1) component of the mammalian 2-oxoglutarate dehydrogenase multienzyme complex. Rice, J.E., Dunbar, B., Lindsay, J.G. EMBO J. (1992)
- Targeted disruption of the murine dihydrolipoamide dehydrogenase gene (Dld) results in perigastrulation lethality. Johnson, M.T., Yang, H.S., Magnuson, T., Patel, M.S. Proc. Natl. Acad. Sci. U.S.A. (1997)
- Distribution of dihydrolipoamide acetyltransferase (E2) in the liver and portal lymph nodes of patients with primary biliary cirrhosis: an immunohistochemical study. Joplin, R., Lindsay, J.G., Hubscher, S.G., Johnson, G.D., Shaw, J.C., Strain, A.J., Neuberger, J.M. Hepatology (1991)
- Purification, characterization and function of dihydrolipoamide dehydrogenase from the cyanobacterium Anabaena sp. strain P.C.C. 7119. Serrano, A. Biochem. J. (1992)
- The domain structure of the dihydrolipoyl transacetylase component of the pyruvate dehydrogenase complex from Azotobacter vinelandii. Hanemaaijer, R., de Kok, A., Jolles, J., Veeger, C. Eur. J. Biochem. (1987)
- 2-Oxoacid dehydrogenase multienzyme complexes in the halophilic Archaea? Gene sequences and protein structural predictions. Jolley, K.A., Maddocks, D.G., Gyles, S.L., Mullan, Z., Tang, S.L., Dyall-Smith, M.L., Hough, D.W., Danson, M.J. Microbiology (Reading, Engl.) (2000)
- Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex. Brautigam, C.A., Wynn, R.M., Chuang, J.L., Machius, M., Tomchick, D.R., Chuang, D.T. Structure (2006)
- Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes. Pons, G., Raefsky-Estrin, C., Carothers, D.J., Pepin, R.A., Javed, A.A., Jesse, B.W., Ganapathi, M.K., Samols, D., Patel, M.S. Proc. Natl. Acad. Sci. U.S.A. (1988)
- Characterization of the transcriptional regulatory region of the human dihydrolipoamide dehydrogenase gene. Johanning, G.L., Morris, J.I., Madhusudhan, K.T., Samols, D., Patel, M.S. Proc. Natl. Acad. Sci. U.S.A. (1992)
- Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. Liu, T.C., Kim, H., Arizmendi, C., Kitano, A., Patel, M.S. Proc. Natl. Acad. Sci. U.S.A. (1993)
- Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency. Hong, Y.S., Kerr, D.S., Craigen, W.J., Tan, J., Pan, Y., Lusk, M., Patel, M.S. Hum. Mol. Genet. (1996)
- Autoantibodies in sera of patients with myocarditis: characterization of the corresponding proteins by isoelectric focusing and N-terminal sequence analysis. Pankuweit, S., Portig, I., Lottspeich, F., Maisch, B. J. Mol. Cell. Cardiol. (1997)
- Immunogenetic analysis reveals that epitope shifting occurs during B-cell affinity maturation in primary biliary cirrhosis. Potter, K.N., Thomson, R.K., Hamblin, A., Richards, S.D., Lindsay, J.G., Stevenson, F.K. J. Mol. Biol. (2001)
- How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex. Ciszak, E.M., Makal, A., Hong, Y.S., Vettaikkorumakankauv, A.K., Korotchkina, L.G., Patel, M.S. J. Biol. Chem. (2006)
- Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations. Brautigam, C.A., Chuang, J.L., Tomchick, D.R., Machius, M., Chuang, D.T. J. Mol. Biol. (2005)
- Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components. Hiromasa, Y., Fujisawa, T., Aso, Y., Roche, T.E. J. Biol. Chem. (2004)
- Subunit interactions in the mammalian alpha-ketoglutarate dehydrogenase complex. Evidence for direct association of the alpha-ketoglutarate dehydrogenase and dihydrolipoamide dehydrogenase components. McCartney, R.G., Rice, J.E., Sanderson, S.J., Bunik, V., Lindsay, H., Lindsay, J.G. J. Biol. Chem. (1998)
- Glycine decarboxylase and pyruvate dehydrogenase complexes share the same dihydrolipoamide dehydrogenase in pea leaf mitochondria: evidence from mass spectrometry and primary-structure analysis. Bourguignon, J., Merand, V., Rawsthorne, S., Forest, E., Douce, R. Biochem. J. (1996)
- Molecular biology of the human pyruvate dehydrogenase complex: structural aspects of the E2 and E3 components. Thekkumkara, T.J., Pons, G., Mitroo, S., Jentoft, J.E., Patel, M.S. Ann. N. Y. Acad. Sci. (1989)
- Humoral and cellular immune responses to dihydrolipoamide dehydrogenase (E3): lack of specificity for primary biliary cirrhosis. Tanaka, H., Maeda, T., Onishi, S., Yamamoto, Y. Liver (1995)
- Myeloperoxidase-generated phenothiazine cation radicals inactivate Trypanosoma cruzi dihydrolipoamide dehydrogenase. Gutiérrez-Correa, J., Stoppani, A.O. Rev. Argent. Microbiol. (2002)
- A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. Odièvre, M.H., Chretien, D., Munnich, A., Robinson, B.H., Dumoulin, R., Masmoudi, S., Kadhom, N., Rötig, A., Rustin, P., Bonnefont, J.P. Hum. Mutat. (2005)
- Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification. Ho, L., Hu, C.W., Packman, S., Patel, M.S. J. Clin. Invest. (1986)
- The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements. Feigenbaum, A.S., Robinson, B.H. Genomics (1993)
- Re-emergence of epidemic Venezuelan equine encephalomyelitis in South America. VEE Study Group. Weaver, S.C., Salas, R., Rico-Hesse, R., Ludwig, G.V., Oberste, M.S., Boshell, J., Tesh, R.B. Lancet (1996)