[1]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=3693355 [NCBI, ExPASy, EBI, Israel, Japan]
Otulakowski G.,
Robinson B.H.;
"Isolation and sequence determination of cDNA clones for porcine and human lipoamide dehydrogenase. Homology to other disulfide oxidoreductases.";
J. Biol. Chem. 262:17313-17318(1987).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT LYS-104.
PubMed=3278312 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes.";
Proc. Natl. Acad. Sci. U.S.A. 85:1422-1426(1988).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Liver;
DOI=10.1006/geno.1993.1335; PubMed=8406489 [NCBI, ExPASy, EBI, Israel, Japan]
Feigenbaum A.S.,
Robinson B.H.;
"The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements.";
Genomics 17:376-381(1993).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LYS-104.
TISSUE=Brain;
Totoki Y.,
Toyoda A.,
Takeda T.,
Sakaki Y.,
Tanaka A.,
Yokoyama S.,
Ohara O.,
Nagase T.,
Kikuno R.F.;
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1126/science.1083423; PubMed=12690205 [NCBI, ExPASy, EBI, Israel, Japan]
Scherer S.W.,
Cheung J.,
MacDonald J.R.,
Osborne L.R.,
Nakabayashi K.,
Herbrick J.-A.,
Carson A.R.,
Parker-Katiraee L.,
Skaug J.,
Khaja R.,
Zhang J.,
Hudek A.K.,
Li M.,
Haddad M.,
Duggan G.E.,
Fernandez B.A.,
Kanematsu E.,
Gentles S.,
Christopoulos C.C., ![]()
Choufani S.,
Kwasnicka D.,
Zheng X.H.,
Lai Z.,
Nusskern D.R.,
Zhang Q.,
Gu Z.,
Lu F.,
Zeesman S.,
Nowaczyk M.J.,
Teshima I.,
Chitayat D.,
Shuman C.,
Weksberg R.,
Zackai E.H.,
Grebe T.A.,
Cox S.R.,
Kirkpatrick S.J.,
Rahman N.,
Friedman J.M.,
Heng H.H.Q.,
Pelicci P.G.,
Lo-Coco F.,
Belloni E.,
Shaffer L.G.,
Pober B.,
Morton C.C.,
Gusella J.F.,
Bruns G.A.P.,
Korf B.R.,
Quade B.J.,
Ligon A.H.,
Ferguson H.,
Higgins A.W.,
Leach N.T.,
Herrick S.R.,
Lemyre E.,
Farra C.G.,
Kim H.-G.,
Summers A.M.,
Gripp K.W.,
Roberts W.,
Szatmari P.,
Winsor E.J.T.,
Grzeschik K.-H.,
Teebi A.,
Minassian B.A.,
Kere J.,
Armengol L.,
Pujana M.A.,
Estivill X.,
Wilson M.D.,
Koop B.F.,
Tosi S.,
Moore G.E.,
Boright A.P.,
Zlotorynski E.,
Kerem B.,
Kroisel P.M.,
Petek E.,
Oscier D.G.,
Mould S.J.,
Doehner H.,
Doehner K.,
Rommens J.M.,
Vincent J.B.,
Venter J.C.,
Li P.W.,
Mural R.J.,
Adams M.D.,
Tsui L.-C.;
"Human chromosome 7: DNA sequence and biology.";
Science 300:767-772(2003).
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LYS-104.
TISSUE=Ovary;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[7]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-13.
PubMed=1332063 [NCBI, ExPASy, EBI, Israel, Japan]
Johanning G.L.,
Morris J.I.,
Madhusudhan K.T.,
Samols D.,
Patel M.S.;
"Characterization of the transcriptional regulatory region of the human dihydrolipoamide dehydrogenase gene.";
Proc. Natl. Acad. Sci. U.S.A. 89:10964-10968(1992).
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[8]
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X-RAY CRYSTALLOGRAPHY (2.08 ANGSTROMS) OF 36-509 IN COMPLEXES WITH NAD AND FAD, AND SUBUNIT.
DOI=10.1016/j.jmb.2005.05.014; PubMed=15946682 [NCBI, ExPASy, EBI, Israel, Japan]
Brautigam C.A.,
Chuang J.L.,
Tomchick D.R.,
Machius M.,
Chuang D.T.;
"Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations.";
J. Mol. Biol. 350:543-552(2005).
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[9]
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X-RAY CRYSTALLOGRAPHY (2.59 ANGSTROMS) OF 36-509.
DOI=10.1074/jbc.M507850200; PubMed=16263718 [NCBI, ExPASy, EBI, Israel, Japan]
Ciszak E.M.,
Makal A.,
Hong Y.S.,
Vettaikkorumakankauv A.K.,
Korotchkina L.G.,
Patel M.S.;
"How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex.";
J. Biol. Chem. 281:648-655(2006).
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[10]
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X-RAY CRYSTALLOGRAPHY (2.18 ANGSTROMS) OF 36-509 IN COMPLEX WITH PDHX, AND CHARACTERIZATION OF VARIANT DLD DEFICIENCY GLY-495.
DOI=10.1016/j.str.2006.01.001; PubMed=16442803 [NCBI, ExPASy, EBI, Israel, Japan]
Brautigam C.A.,
Wynn R.M.,
Chuang J.L.,
Machius M.,
Tomchick D.R.,
Chuang D.T.;
"Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex.";
Structure 14:611-621(2006).
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[11]
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VARIANTS DLD DEFICIENCY GLU-72 AND LEU-488.
PubMed=8506365 [NCBI, ExPASy, EBI, Israel, Japan]
Liu T.-C.,
Kim H.,
Arizmendi C.,
Kitano A.,
Patel M.S.;
"Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.";
Proc. Natl. Acad. Sci. U.S.A. 90:5186-5190(1993).
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[12]
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VARIANT DLD DEFICIENCY GLY-495.
DOI=10.1093/hmg/5.12.1925; PubMed=8968745 [NCBI, ExPASy, EBI, Israel, Japan]
Hong Y.S.,
Kerr D.S.,
Craigen W.J.,
Tan J.,
Pan Y.,
Lusk M.,
Patel M.S.;
"Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.";
Hum. Mol. Genet. 5:1925-1930(1996).
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[13]
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VARIANT DLD DEFICIENCY CYS-229.
DOI=10.1002/(SICI)1096-8628(19990115)82:2<177::AID-AJMG15>3.3.CO;2-0; PubMed=9934985 [NCBI, ExPASy, EBI, Israel, Japan]
Shaag A.,
Saada A.,
Berger I.,
Mandel H.,
Joseph A.,
Feigenbaum A.,
Elpeleg O.N.;
"Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.";
Am. J. Med. Genet. 82:177-182(1999).
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