[1]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1016/0167-4781(92)90149-T; PubMed=1420356 [NCBI, ExPASy, EBI, Israel, Japan]
McKean M.C.,
Winkeler K.A.,
Danner D.J.;
"Nucleotide sequence of the 5' end including the initiation codon of cDNA for the E1 alpha subunit of the human branched chain alpha-ketoacid dehydrogenase complex.";
Biochim. Biophys. Acta 1171:109-112(1992).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Bone marrow, and Lung;
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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[3]
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NUCLEOTIDE SEQUENCE [MRNA] OF 3-445.
PubMed=2914958 [NCBI, ExPASy, EBI, Israel, Japan]
Fisher C.W.,
Chuang J.L.,
Griffin T.A.,
Lau K.S.,
Cox R.P.,
Chuang D.T.;
"Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex.";
J. Biol. Chem. 264:3448-3453(1989).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 3-445, AND VARIANT MSUD1A ASN-438.
DOI=10.1016/0014-5793(91)80755-R; PubMed=2060625 [NCBI, ExPASy, EBI, Israel, Japan]
Dariush N.,
Fisher C.W.,
Cox R.P.,
Chuang D.T.;
"Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex.";
FEBS Lett. 284:34-38(1991).
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[5]
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ERRATUM.
DOI=10.1016/0014-5793(91)81324-2; PubMed=1682165 [NCBI, ExPASy, EBI, Israel, Japan]
Dariush N.,
Fisher C.W.,
Cox R.P.,
Chuang D.T.;
FEBS Lett. 291:376-377(1991).
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[6]
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NUCLEOTIDE SEQUENCE [MRNA] OF 68-445.
TISSUE=Liver;
DOI=10.1016/0378-1119(88)90390-3; PubMed=3224821 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang B.,
Crabb D.W.,
Harris R.A.;
"Nucleotide and deduced amino acid sequence of the E1 alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase.";
Gene 69:159-164(1988).
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[7]
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PROTEIN SEQUENCE OF 46-57.
DOI=10.1016/0304-4165(94)90161-9; PubMed=7918575 [NCBI, ExPASy, EBI, Israel, Japan]
Wynn R.M.,
Kochi H.,
Cox R.P.,
Chuang D.T.;
"Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N-terminal proline in the rat sequence.";
Biochim. Biophys. Acta 1201:125-128(1994).
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[8]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-337 AND SER-347, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1016/j.cell.2006.09.026; PubMed=17081983 [NCBI, ExPASy, EBI, Israel, Japan]
Olsen J.V.,
Blagoev B.,
Gnad F.,
Macek B.,
Kumar C.,
Mortensen P.,
Mann M.;
"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.";
Cell 127:635-648(2006).
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[9]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-337; TYR-345 AND SER-347, AND MASS SPECTROMETRY.
DOI=10.1073/pnas.0611217104; PubMed=17287340 [NCBI, ExPASy, EBI, Israel, Japan]
Molina H.,
Horn D.M.,
Tang N.,
Mathivanan S.,
Pandey A.;
"Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry.";
Proc. Natl. Acad. Sci. U.S.A. 104:2199-2204(2007).
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[10]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-337, AND MASS SPECTROMETRY.
TISSUE=Platelet;
DOI=10.1021/pr0704130; PubMed=18088087 [NCBI, ExPASy, EBI, Israel, Japan]
Zahedi R.P.,
Lewandrowski U.,
Wiesner J.,
Wortelkamp S.,
Moebius J.,
Schuetz C.,
Walter U.,
Gambaryan S.,
Sickmann A.;
"Phosphoproteome of resting human platelets.";
J. Proteome Res. 7:526-534(2008).
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[11]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-337, AND MASS SPECTROMETRY.
DOI=10.1021/pr0705441; PubMed=18220336 [NCBI, ExPASy, EBI, Israel, Japan]
Cantin G.T.,
Yi W.,
Lu B.,
Park S.K.,
Xu T.,
Lee J.-D.,
Yates J.R. III;
"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.";
J. Proteome Res. 7:1346-1351(2008).
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[12]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-337 AND SER-347, AND MASS SPECTROMETRY.
TISSUE=Liver;
DOI=10.1002/pmic.200700884; PubMed=18318008 [NCBI, ExPASy, EBI, Israel, Japan]
Han G.,
Ye M.,
Zhou H.,
Jiang X.,
Feng S.,
Jiang X.,
Tian R.,
Wan D.,
Zou H.,
Gu J.;
"Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.";
Proteomics 8:1346-1361(2008).
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[13]
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X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 46-445 IN COMPLEX WITH THIAMINE PYROPHOSPHATE AND POTASSIUM IONS, AND SUBUNIT STRUCTURE.
DOI=10.1016/S0969-2126(00)00105-2; PubMed=10745006 [NCBI, ExPASy, EBI, Israel, Japan]
Aevarsson A.,
Chuang J.L.,
Wynn R.M.,
Turley S.,
Chuang D.T.,
Hol W.G.J.;
"Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.";
Structure 8:277-291(2000).
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[14]
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VARIANT MSUD1A CYS-413.
PubMed=8037208 [NCBI, ExPASy, EBI, Israel, Japan]
Chuang J.L.,
Fisher C.R.,
Cox R.P.,
Chuang D.T.;
"Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.";
Am. J. Hum. Genet. 55:297-304(1994).
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[15]
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VARIANT MSUD1A ASN-438.
PubMed=2703538 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang B.,
Edenberg H.J.,
Crabb D.W.,
Harris R.A.;
"Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.";
J. Clin. Invest. 83:1425-1429(1989).
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[16]
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VARIANT MSUD1A ASN-438.
DOI=10.1016/0006-291X(90)90723-Z; PubMed=2241958 [NCBI, ExPASy, EBI, Israel, Japan]
Matsuda I.,
Nobukuni Y.,
Mitsubuchi H.,
Indo Y.,
Endo F.,
Asaka J.,
Harada A.;
"A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.";
Biochem. Biophys. Res. Commun. 172:646-651(1990).
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[17]
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VARIANT MSUD1A ASN-438.
PubMed=1867199 [NCBI, ExPASy, EBI, Israel, Japan]
Fisher C.R.,
Fisher C.W.,
Chuang D.T.,
Cox R.P.;
"Occurrence of a Tyr393-->Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.";
Am. J. Hum. Genet. 49:429-434(1991).
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[18]
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VARIANT MSUD1A ASN-438.
PubMed=1885764 [NCBI, ExPASy, EBI, Israel, Japan]
Fisher C.R.,
Chuang J.L.,
Cox R.P.,
Fisher C.W.,
Star R.A.,
Chuang D.T.;
"Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.";
J. Clin. Invest. 88:1034-1037(1991).
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[19]
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VARIANTS MSUD1A TRP-159; LYS-190; THR-253 AND THR-326.
PubMed=8161368 [NCBI, ExPASy, EBI, Israel, Japan]
Nobukuni Y.,
Mitsubuchi H.,
Hayashida Y.,
Ohta K.,
Indo Y.,
Ichiba Y.,
Endo F.,
Matsuda I.;
"Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.";
Biochim. Biophys. Acta 1225:64-70(1993).
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[20]
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VARIANTS MSUD1A ARG-290 AND CYS-409.
PubMed=7883996 [NCBI, ExPASy, EBI, Israel, Japan]
Chuang J.L.,
Davie J.R.,
Chinsky J.M.,
Wynn R.M.,
Cox R.P.,
Chuang D.T.;
"Molecular and biochemical basis of intermediate maple syrup urine disease: occurrence of homozygous G245R and F364C mutations at the E1-alpha locus of Hispanic-Mexican patients.";
J. Clin. Invest. 95:954-963(1995).
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