[1]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=3456579 [NCBI, ExPASy, EBI, Israel, Japan]
Inana G.,
Totsuka S.,
Redmond M.,
Dougherty T.,
Nagle J.,
Shiono T.,
Ohura T.,
Kominami E.,
Katunuma N.;
"Molecular cloning of human ornithine aminotransferase mRNA.";
Proc. Natl. Acad. Sci. U.S.A. 83:1203-1207(1986).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
PubMed=3816496 [NCBI, ExPASy, EBI, Israel, Japan]
Ramesh V.,
Shaffer M.M.,
Allaire J.M.,
Shih V.E.,
Gusella J.F.;
"Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.";
DNA 5:493-501(1986).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 36-40, AND PROTEOLYTIC PROCESSING.
TISSUE=Kidney;
DOI=10.1016/0014-5793(89)81110-X; PubMed=2507357 [NCBI, ExPASy, EBI, Israel, Japan]
Kobayashi T.,
Nishii M.,
Takagi Y.,
Titani T.,
Matsuzawa T.;
"Molecular cloning and nucleotide sequence analysis of mRNA for human kidney ornithine aminotransferase. An examination of ornithine aminotransferase isozymes between liver and kidney.";
FEBS Lett. 255:300-304(1989).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
PubMed=3170546 [NCBI, ExPASy, EBI, Israel, Japan]
Mitchell G.A.,
Looney J.E.,
Brody L.C.,
Steel G.,
Suchanek M.,
Engelhardt J.F.,
Willard H.F.,
Valle D.;
"Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene.";
J. Biol. Chem. 263:14288-14295(1988).
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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Placenta;
DOI=10.1016/0014-4835(90)90126-F; PubMed=2373169 [NCBI, ExPASy, EBI, Israel, Japan]
Zintz C.B.,
Inana G.;
"Analysis of the human ornithine aminotransferase gene family.";
Exp. Eye Res. 50:759-770(1990).
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Placenta, and Uterus;
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 [MRNA] OF 50-58 AND 328-336.
PubMed=1682785 [NCBI, ExPASy, EBI, Israel, Japan]
Ramesh V.,
Gusella J.F.,
Shih V.E.;
"Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.";
Mol. Biol. Med. 8:81-93(1991).
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[8]
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PARTIAL PROTEIN SEQUENCE, PYRIDOXAL PHOSPHATE AT LYS-292, AND PROTEOLYTIC PROCESSING.
DOI=10.1016/0014-5793(86)81219-4; PubMed=3754226 [NCBI, ExPASy, EBI, Israel, Japan]
Simmaco M.,
John R.A.,
Barra D.,
Bossa F.;
"The primary structure of ornithine aminotransferase. Identification of active-site sequence and site of post-translational proteolysis.";
FEBS Lett. 199:39-42(1986).
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[9]
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X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS).
DOI=10.1016/S0969-2126(97)00258-X; PubMed=9309222 [NCBI, ExPASy, EBI, Israel, Japan]
Shah S.A.,
Shen B.W.,
Brunger A.T.;
"Human ornithine aminotransferase complexed with L-canaline and gabaculine: structural basis for substrate recognition.";
Structure 5:1067-1075(1997).
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[10]
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X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS).
DOI=10.1006/jmbi.1997.1583; PubMed=9514741 [NCBI, ExPASy, EBI, Israel, Japan]
Shen B.W.,
Hennig M.,
Hohenester E.,
Jansonius J.N.,
Schirmer T.;
"Crystal structure of human recombinant ornithine aminotransferase.";
J. Mol. Biol. 277:81-102(1998).
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[11]
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X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS).
DOI=10.1006/jmbi.1998.2289; PubMed=9878407 [NCBI, ExPASy, EBI, Israel, Japan]
Storici P.,
Capitani G.,
Mueller R.,
Schirmer T.,
Jansonius J.N.;
"Crystal structure of human ornithine aminotransferase complexed with the highly specific and potent inhibitor 5-fluoromethylornithine.";
J. Mol. Biol. 285:297-309(1999).
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[12]
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VARIANTS HOGA LYS-54 AND MET-332.
PubMed=3375240 [NCBI, ExPASy, EBI, Israel, Japan]
Ramesh V.,
McClatchey A.I.,
Ramesh N.,
Benoit L.A.,
Berson E.L.,
Shih V.E.,
Gusella J.F.;
"Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.";
Proc. Natl. Acad. Sci. U.S.A. 85:3777-3780(1988).
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[13]
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VARIANT HOGA TYR-319.
PubMed=2793865 [NCBI, ExPASy, EBI, Israel, Japan]
Inana G.,
Chambers C.,
Hotta Y.,
Inouye L.,
Filpula D.,
Pulford S.,
Shiono T.;
"Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.";
J. Biol. Chem. 264:17432-17436(1989).
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[14]
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VARIANTS HOGA THR-180; LEU-241; PRO-250; ASP-353 AND ARG-394.
DOI=10.1016/0888-7543(92)90258-T; PubMed=1612597 [NCBI, ExPASy, EBI, Israel, Japan]
Michaud J.,
Brody L.C.,
Steel G.,
Fontaine G.,
Martin L.S.,
Valle D.,
Mitchell G.;
"Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.";
Genomics 13:389-394(1992).
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[15]
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VARIANTS HOGA HIS-55; LYS-89; PHE-93; LEU-154; THR-180; ALA-184 DEL; LEU-241; CYS-245; PRO-250; ILE-267; LYS-271; ASP-353; ALA-375; ARG-394; PRO-402 AND LEU-417, AND VARIANT PHE-437.
PubMed=1737786 [NCBI, ExPASy, EBI, Israel, Japan]
Brody L.C.,
Mitchell G.A.,
Obie C.,
Michaud J.,
Steel G.,
Fontaine G.,
Robert M.-F.,
Sipila I.,
Kaiser-Kupfer M.,
Valle D.;
"Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.";
J. Biol. Chem. 267:3302-3307(1992).
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[16]
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VARIANT HOGA VAL-226.
PubMed=7887415 [NCBI, ExPASy, EBI, Israel, Japan]
Michaud J.,
Thompson G.N.,
Brody L.C.,
Steel G.,
Obie C.,
Fontaine G.,
Schappert K.,
Keith C.G.,
Valle D.,
Mitchell G.A.;
"Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.";
Am. J. Hum. Genet. 56:616-622(1995).
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[17]
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VARIANT HOGA GLU-90.
PubMed=7668253 [NCBI, ExPASy, EBI, Israel, Japan]
Kobayashi T.,
Ogawa H.,
Kasahara M.,
Shiozawa Z.,
Matsuzawa T.;
"A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.";
Am. J. Hum. Genet. 57:284-291(1995).
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