[1]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=3035565 [NCBI, ExPASy, EBI, Israel, Japan]
Kelly D.P.,
Kim J.-J.P.,
Billadello J.J.,
Hainline B.E.,
Chu T.W.,
Strauss A.W.;
"Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue.";
Proc. Natl. Acad. Sci. U.S.A. 84:4068-4072(1987).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1021/bi00116a013; PubMed=1731887 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang Z.F.,
Kelly D.P.,
Kim J.-J.P.,
Zhou Y.Q.,
Ogden M.L.,
Whelan A.J.,
Strauss A.W.;
"Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene.";
Biochemistry 31:81-89(1992).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Colon;
Sun F.,
Wang Y.,
Block G.D.;
"Medium-chain acyl-CoA dehydrogenase.";
Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Liver;
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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[5]
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PROTEIN SEQUENCE OF 218-235, AND MASS SPECTROMETRY.
TISSUE=Brain, and Cajal-Retzius cell;
Lubec G.,
Vishwanath V.;
Submitted (MAR-2007) to UniProtKB.
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[6]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 314-342, AND VARIANT MCAD DEFICIENCY GLU-329.
DOI=10.1016/0006-291X(90)91421-N; PubMed=2393404 [NCBI, ExPASy, EBI, Israel, Japan]
Matsubara Y.,
Narisawa K.,
Miyabayashi S.,
Tada K.,
Coates P.M.,
Bachmann C.,
Elsas L.J. II,
Pollitt R.J.,
Rhead W.J.,
Roe C.R.;
"Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.";
Biochem. Biophys. Res. Commun. 171:498-505(1990).
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[7]
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X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) IN COMPLEX WITH FAD AND OCTANOYL-COENZYME A, AND SUBUNIT.
DOI=10.1021/bi9607867; PubMed=8823176 [NCBI, ExPASy, EBI, Israel, Japan]
Lee H.J.,
Wang M.,
Paschke R.,
Nandy A.,
Ghisla S.,
Kim J.-J.P.;
"Crystal structures of the wild type and the Glu376Gly/Thr255Glu mutant of human medium-chain acyl-CoA dehydrogenase: influence of the location of the catalytic base on substrate specificity.";
Biochemistry 35:12412-12420(1996).
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[8]
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X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF 26-421 IN COMPLEXES WITH FAD AND THE ETFA-ETFB HETERODIMER, MUTAGENESIS OF LEU-86; LEU-98; LEU-100; ILE-108; GLU-237 AND GLU-384, AND SUBUNIT.
DOI=10.1074/jbc.M404884200; PubMed=15159392 [NCBI, ExPASy, EBI, Israel, Japan]
Toogood H.S.,
van Thiel A.,
Basran J.,
Sutcliffe M.J.,
Scrutton N.S.,
Leys D.;
"Extensive domain motion and electron transfer in the human electron transferring flavoprotein-medium chain acyl-CoA dehydrogenase complex.";
J. Biol. Chem. 279:32904-32912(2004).
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[9]
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X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) IN COMPLEXES WITH FAD AND THE ETFA-ETFB HETERODIMER, MUTAGENESIS OF TRP-191; GLU-237 AND GLU-384, AND SUBUNIT.
DOI=10.1074/jbc.M505562200; PubMed=15975918 [NCBI, ExPASy, EBI, Israel, Japan]
Toogood H.S.,
van Thiel A.,
Scrutton N.S.,
Leys D.;
"Stabilization of non-productive conformations underpins rapid electron transfer to electron-transferring flavoprotein.";
J. Biol. Chem. 280:30361-30366(2005).
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[10]
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REVIEW ON VARIANTS MCAD DEFICIENCY.
PubMed=1363805 [NCBI, ExPASy, EBI, Israel, Japan]
Tanaka K.,
Yokota I.,
Coates P.M.,
Strauss A.W.,
Kelly D.P.,
Zhang Z.F.,
Gregersen N.,
Andresen B.S.,
Matsubara Y.,
Curtis D.,
Chen Y.-T.;
"Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.";
Hum. Mutat. 1:271-279(1992).
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[11]
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VARIANT MCAD DEFICIENCY GLU-329.
PubMed=2394825 [NCBI, ExPASy, EBI, Israel, Japan]
Yokota I.,
Indo Y.,
Coates P.M.,
Tanaka K.;
"Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.";
J. Clin. Invest. 86:1000-1003(1990).
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[12]
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VARIANT MCAD DEFICIENCY GLU-329.
PubMed=2251268 [NCBI, ExPASy, EBI, Israel, Japan]
Kelly D.P.,
Whelan A.J.,
Ogden M.L.,
Alpers R.,
Zhang Z.F.,
Bellus G.,
Gregersen N.,
Dorland L.,
Strauss A.W.;
"Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.";
Proc. Natl. Acad. Sci. U.S.A. 87:9236-9240(1990).
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[13]
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VARIANTS MCAD DEFICIENCY ILE-149; ARG-244; ARG-267 AND THR-375.
PubMed=1684086 [NCBI, ExPASy, EBI, Israel, Japan]
Yokota I.,
Coates P.M.,
Hale D.E.,
Rinaldo P.,
Tanaka K.;
"Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.";
Am. J. Hum. Genet. 49:1280-1291(1991).
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[14]
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VARIANT MCAD DEFICIENCY GLU-329.
DOI=10.1007/BF00201539; PubMed=1902818 [NCBI, ExPASy, EBI, Israel, Japan]
Gregersen N.,
Andresen B.S.,
Bross P.,
Winter V.,
Ruediger N.,
Engst S.,
Christensen E.,
Kelly D.,
Strauss A.W.,
Koelvraa S.,
Bolund L.,
Ghisla S.;
"Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.";
Hum. Genet. 86:545-551(1991).
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[15]
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VARIANT MCAD DEFICIENCY GLU-329 FREQUENCY.
DOI=10.1016/0140-6736(91)90907-7; PubMed=1671131 [NCBI, ExPASy, EBI, Israel, Japan]
Blakemore A.I.,
Singleton H.,
Pollitt R.J.,
Engel P.C.,
Kolvraa S.,
Gregersen N.,
Curtis D.;
"Frequency of the G985 MCAD mutation in the general population.";
Lancet 337:298-299(1991).
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[16]
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VARIANTS MCAD DEFICIENCY THR-326 AND ARG-336.
PubMed=8198141 [NCBI, ExPASy, EBI, Israel, Japan]
Andresen B.S.,
Jensen T.G.,
Bross P.,
Knudsen I.,
Winter V.,
Koelvraa S.,
Bolund L.,
Ding J.-H.,
Chen Y.-T.,
van Hove J.L.K.,
Curtis D.,
Yokota I.,
Tanaka K.,
Kim J.-J.P.,
Gregersen N.;
"Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.";
Am. J. Hum. Genet. 54:975-988(1994).
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[17]
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VARIANT MCAD DEFICIENCY 115-GLY-CYS-116 DEL.
DOI=10.1203/00006450-199505000-00021; PubMed=7603790 [NCBI, ExPASy, EBI, Israel, Japan]
Ziadeh R.,
Hoffman E.P.,
Finegold D.N.,
Hoop R.C.,
Brackett J.C.,
Strauss A.W.,
Naylor E.W.;
"Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.";
Pediatr. Res. 37:675-678(1995).
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[18]
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VARIANT MCAD DEFICIENCY ARG-195.
PubMed=7929823 [NCBI, ExPASy, EBI, Israel, Japan]
Brackett J.C.,
Sims H.F.,
Steiner R.D.,
Nunge M.,
Zimmerman E.M.,
Demartinville B.,
Rinaldo P.,
Slaugh R.,
Strauss A.W.;
"A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.";
J. Clin. Invest. 94:1477-1483(1994).
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[19]
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VARIANTS MCAD DEFICIENCY TYR-116; ALA-193 AND CYS-352.
DOI=10.1093/hmg/6.5.695; PubMed=9158144 [NCBI, ExPASy, EBI, Israel, Japan]
Andresen B.S.,
Bross P.,
Udvari S.,
Kirk J.,
Gray G.,
Kmoch S.,
Chamoles N.,
Knudsen I.,
Winter V.,
Wilcken B.,
Yokota I.,
Hart K.,
Packman S.,
Harpey J.P.,
Saudubray J.-M.,
Hale D.E.,
Bolund L.,
Koelvraa S.,
Gregersen N.;
"The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?";
Hum. Mol. Genet. 6:695-707(1997).
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[20]
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CHARACTERIZATION OF VARIANT MCAD DEFICIENCY ALA-193.
DOI=10.1042/0264-6021:3370225; PubMed=9882619 [NCBI, ExPASy, EBI, Israel, Japan]
Kuchler B.,
Abdel-Ghany A.G.,
Bross P.,
Nandy A.,
Rasched I.,
Ghisla S.;
"Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.";
Biochem. J. 337:225-230(1999).
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[21]
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VARIANTS MCAD DEFICIENCY LEU-206 AND GLU-329.
DOI=10.1006/mgme.2000.2978; PubMed=10767181 [NCBI, ExPASy, EBI, Israel, Japan]
Yang B.-Z.,
Ding J.-H.,
Zhou C.,
Dimachkie M.M.,
Sweetman L.,
Dasouki M.J.,
Wilkinson J.,
Roe C.R.;
"Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.";
Mol. Genet. Metab. 69:259-262(2000).
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[22]
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VARIANTS MCAD DEFICIENCY HIS-67; THR-78; ILE-121 AND ARG-310.
DOI=10.1086/320602; PubMed=11349232 [NCBI, ExPASy, EBI, Israel, Japan]
Andresen B.S.,
Dobrowolski S.F.,
O'Reilly L.,
Muenzer J.,
McCandless S.E.,
Frazier D.M.,
Udvari S.,
Bross P.,
Knudsen I.,
Banas R.,
Chace D.H.,
Engel P.C.,
Naylor E.W.,
Gregersen N.;
"Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.";
Am. J. Hum. Genet. 68:1408-1418(2001).
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[23]
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VARIANT MCAD DEFICIENCY LEU-245.
DOI=10.1007/s004390100501; PubMed=11409868 [NCBI, ExPASy, EBI, Israel, Japan]
Zschocke J.,
Schulze A.,
Lindner M.,
Fiesel S.,
Olgemoller K.,
Hoffmann G.F.,
Penzien J.,
Ruiter J.P.N.,
Wanders R.J.A.,
Mayatepek E.;
"Molecular and functional characterization of mild MCAD deficiency.";
Hum. Genet. 108:404-408(2001).
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[24]
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VARIANTS MCAD DEFICIENCY THR-281 AND GLU-329.
DOI=10.1023/A:1010533408635; PubMed=11486912 [NCBI, ExPASy, EBI, Israel, Japan]
Albers S.,
Levy H.L.,
Irons M.,
Strauss A.W.,
Marsden D.;
"Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.";
J. Inherit. Metab. Dis. 24:417-418(2001).
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[25]
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VARIANT [LARGE SCALE ANALYSIS] ARG-132.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T.,
Jones S.,
Wood L.D.,
Parsons D.W.,
Lin J.,
Barber T.D.,
Mandelker D.,
Leary R.J.,
Ptak J.,
Silliman N.,
Szabo S.,
Buckhaults P.,
Farrell C.,
Meeh P.,
Markowitz S.D.,
Willis J.,
Dawson D.,
Willson J.K.V.,
Gazdar A.F., ![]()
Hartigan J.,
Wu L.,
Liu C.,
Parmigiani G.,
Park B.H.,
Bachman K.E.,
Papadopoulos N.,
Vogelstein B.,
Kinzler K.W.,
Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
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