[1]
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NUCLEOTIDE SEQUENCE [MRNA], AND PROTEIN SEQUENCE OF 2-31.
TISSUE=Liver;
PubMed=3053686 [NCBI, ExPASy, EBI, Israel, Japan]
Hum D.W.,
Bell A.W.,
Rozen R.,
Mackenzie R.E.;
"Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase.";
J. Biol. Chem. 263:15946-15950(1988).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLN-653 AND PHE-769.
TISSUE=Brain, Eye, and Lymph;
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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PROTEIN SEQUENCE OF 2-17.
TISSUE=Platelet;
DOI=10.1038/nbt810; PubMed=12665801 [NCBI, ExPASy, EBI, Israel, Japan]
Gevaert K.,
Goethals M.,
Martens L.,
Van Damme J.,
Staes A.,
Thomas G.R.,
Vandekerckhove J.;
"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.";
Nat. Biotechnol. 21:566-569(2003).
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[4]
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X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF 1-302.
DOI=10.1016/S0969-2126(98)00019-7; PubMed=9519408 [NCBI, ExPASy, EBI, Israel, Japan]
Allaire M.,
Li Y.,
Mackenzie R.E.,
Cygler M.;
"The 3-D structure of a folate-dependent dehydrogenase/cyclohydrolase bifunctional enzyme at 1.5-A resolution.";
Structure 6:173-182(1998).
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[5]
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X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 1-306 IN COMPLEX WITH NADP AND SUBSTRATE ANALOGS, SUBUNIT, AND MUTAGENESIS OF SER-49; TYR-52; LYS-56 AND CYS-147.
DOI=10.1021/bi992734y; PubMed=10828945 [NCBI, ExPASy, EBI, Israel, Japan]
Schmidt A.,
Wu H.,
MacKenzie R.E.,
Chen V.J.,
Bewly J.R.,
Ray J.E.,
Toth J.E.,
Cygler M.;
"Structures of three inhibitor complexes provide insight into the reaction mechanism of the human methylenetetrahydrofolate dehydrogenase/cyclohydrolase.";
Biochemistry 39:6325-6335(2000).
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[6]
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ASSOCIATION OF VARIANT HIS-293 WITH SUSCEPTIBILITY TO FOLATE-SENSITIVE NTD, AND VARIANT GLN-653.
PubMed=9611072 [NCBI, ExPASy, EBI, Israel, Japan]
Hol F.A.,
van der Put N.M.J.,
Geurds M.P.A.,
Heil S.G.,
Trijbels F.J.M.,
Hamel B.C.J.,
Mariman E.C.M.,
Blom H.J.;
"Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects.";
Clin. Genet. 53:119-125(1998).
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[7]
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ASSOCIATION OF VARIANT GLN-653 WITH SUSCEPTIBILITY TO FOLATE-SENSITIVE NTD, AND VARIANT LYS-134.
DOI=10.1086/344213; PubMed=12384833 [NCBI, ExPASy, EBI, Israel, Japan]
Brody L.C.,
Conley M.,
Cox C.,
Kirke P.N.,
McKeever M.P.,
Mills J.L.,
Molloy A.M.,
O'Leary V.B.,
Parle-McDermott A.,
Scott J.M.,
Swanson D.A.;
"A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.";
Am. J. Hum. Genet. 71:1207-1215(2002).
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[8]
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ASSOCIATION OF VARIANT GLN-653 WITH SUSCEPTIBILITY TO FOLATE-SENSITIVE NTD, AND VARIANT LYS-134.
DOI=10.1038/sj.ejhg.5201603; PubMed=16552426 [NCBI, ExPASy, EBI, Israel, Japan]
Parle-McDermott A.,
Kirke P.N.,
Mills J.L.,
Molloy A.M.,
Cox C.,
O'Leary V.B.,
Pangilinan F.,
Conley M.,
Cleary L.,
Brody L.C.,
Scott J.M.;
"Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population.";
Eur. J. Hum. Genet. 14:768-772(2006).
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