[1]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1073/pnas.83.5.1203; 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=Brain;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T.,
Suzuki Y.,
Nishikawa T.,
Otsuki T.,
Sugiyama T.,
Irie R.,
Wakamatsu A.,
Hayashi K.,
Sato H.,
Nagai K.,
Kimura K.,
Makita H.,
Sekine M.,
Obayashi M.,
Nishi T.,
Shibahara T.,
Tanaka T.,
Ishii S.,
Yamamoto J., ![]()
Saito K.,
Kawai Y.,
Isono Y.,
Nakamura Y.,
Nagahari K.,
Murakami K.,
Yasuda T.,
Iwayanagi T.,
Wagatsuma M.,
Shiratori A.,
Sudo H.,
Hosoiri T.,
Kaku Y.,
Kodaira H.,
Kondo H.,
Sugawara M.,
Takahashi M.,
Kanda K.,
Yokoi T.,
Furuya T.,
Kikkawa E.,
Omura Y.,
Abe K.,
Kamihara K.,
Katsuta N.,
Sato K.,
Tanikawa M.,
Yamazaki M.,
Ninomiya K.,
Ishibashi T.,
Yamashita H.,
Murakawa K.,
Fujimori K.,
Tanai H.,
Kimata M.,
Watanabe M.,
Hiraoka S.,
Chiba Y.,
Ishida S.,
Ono Y.,
Takiguchi S.,
Watanabe S.,
Yosida M.,
Hotuta T.,
Kusano J.,
Kanehori K.,
Takahashi-Fujii A.,
Hara H.,
Tanase T.-O.,
Nomura Y.,
Togiya S.,
Komai F.,
Hara R.,
Takeuchi K.,
Arita M.,
Imose N.,
Musashino K.,
Yuuki H.,
Oshima A.,
Sasaki N.,
Aotsuka S.,
Yoshikawa Y.,
Matsunawa H.,
Ichihara T.,
Shiohata N.,
Sano S.,
Moriya S.,
Momiyama H.,
Satoh N.,
Takami S.,
Terashima Y.,
Suzuki O.,
Nakagawa S.,
Senoh A.,
Mizoguchi H.,
Goto Y.,
Shimizu F.,
Wakebe H.,
Hishigaki H.,
Watanabe T.,
Sugiyama A.,
Takemoto M.,
Kawakami B.,
Yamazaki M.,
Watanabe K.,
Kumagai A.,
Itakura S.,
Fukuzumi Y.,
Fujimori Y.,
Komiyama M.,
Tashiro H.,
Tanigami A.,
Fujiwara T.,
Ono T.,
Yamada K.,
Fujii Y.,
Ozaki K.,
Hirao M.,
Ohmori Y.,
Kawabata A.,
Hikiji T.,
Kobatake N.,
Inagaki H.,
Ikema Y.,
Okamoto S.,
Okitani R.,
Kawakami T.,
Noguchi S.,
Itoh T.,
Shigeta K.,
Senba T.,
Matsumura K.,
Nakajima Y.,
Mizuno T.,
Morinaga M.,
Sasaki M.,
Togashi T.,
Oyama M.,
Hata H.,
Watanabe M.,
Komatsu T.,
Mizushima-Sugano J.,
Satoh T.,
Shirai Y.,
Takahashi Y.,
Nakagawa K.,
Okumura K.,
Nagase T.,
Nomura N.,
Kikuchi H.,
Masuho Y.,
Yamashita R.,
Nakai K.,
Yada T.,
Nakamura Y.,
Ohara O.,
Isogai T.,
Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
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[7]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Ebert L.,
Schick M.,
Neubert P.,
Schatten R.,
Henze S.,
Korn B.;
"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201).";
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
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[8]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02462; PubMed=15164054 [NCBI, ExPASy, EBI, Israel, Japan]
Deloukas P.,
Earthrowl M.E.,
Grafham D.V.,
Rubenfield M.,
French L.,
Steward C.A.,
Sims S.K.,
Jones M.C.,
Searle S.,
Scott C.,
Howe K.,
Hunt S.E.,
Andrews T.D.,
Gilbert J.G.R.,
Swarbreck D.,
Ashurst J.L.,
Taylor A.,
Battles J.,
Bird C.P., ![]()
Ainscough R.,
Almeida J.P.,
Ashwell R.I.S.,
Ambrose K.D.,
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Banerjee R.,
Bates K.,
Beasley H.,
Bray-Allen S.,
Brown A.J.,
Brown J.Y.,
Burford D.C.,
Burrill W.,
Burton J.,
Cahill P.,
Camire D.,
Carter N.P.,
Chapman J.C.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.,
Corby N.,
Coulson A.,
Dhami P.,
Dutta I.,
Dunn M.,
Faulkner L.,
Frankish A.,
Frankland J.A.,
Garner P.,
Garnett J.,
Gribble S.,
Griffiths C.,
Grocock R.,
Gustafson E.,
Hammond S.,
Harley J.L.,
Hart E.,
Heath P.D.,
Ho T.P.,
Hopkins B.,
Horne J.,
Howden P.J.,
Huckle E.,
Hynds C.,
Johnson C.,
Johnson D.,
Kana A.,
Kay M.,
Kimberley A.M.,
Kershaw J.K.,
Kokkinaki M.,
Laird G.K.,
Lawlor S.,
Lee H.M.,
Leongamornlert D.A.,
Laird G.,
Lloyd C.,
Lloyd D.M.,
Loveland J.,
Lovell J.,
McLaren S.,
McLay K.E.,
McMurray A.,
Mashreghi-Mohammadi M.,
Matthews L.,
Milne S.,
Nickerson T.,
Nguyen M.,
Overton-Larty E.,
Palmer S.A.,
Pearce A.V.,
Peck A.I.,
Pelan S.,
Phillimore B.,
Porter K.,
Rice C.M.,
Rogosin A.,
Ross M.T.,
Sarafidou T.,
Sehra H.K.,
Shownkeen R.,
Skuce C.D.,
Smith M.,
Standring L.,
Sycamore N.,
Tester J.,
Thorpe A.,
Torcasso W.,
Tracey A.,
Tromans A.,
Tsolas J.,
Wall M.,
Walsh J.,
Wang H.,
Weinstock K.,
West A.P.,
Willey D.L.,
Whitehead S.L.,
Wilming L.,
Wray P.W.,
Young L.,
Chen Y.,
Lovering R.C.,
Moschonas N.K.,
Siebert R.,
Fechtel K.,
Bentley D.,
Durbin R.M.,
Hubbard T.,
Doucette-Stamm L.,
Beck S.,
Smith D.R.,
Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 10.";
Nature 429:375-381(2004).
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[9]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J.,
Istrail S.,
Sutton G.G.,
Florea L.,
Halpern A.L.,
Mobarry C.M.,
Lippert R.,
Walenz B.,
Shatkay H.,
Dew I.,
Miller J.R.,
Flanigan M.J.,
Edwards N.J.,
Bolanos R.,
Fasulo D.,
Halldorsson B.V.,
Hannenhalli S.,
Turner R.,
Yooseph S., ![]()
Lu F.,
Nusskern D.R.,
Shue B.C.,
Zheng X.H.,
Zhong F.,
Delcher A.L.,
Huson D.H.,
Kravitz S.A.,
Mouchard L.,
Reinert K.,
Remington K.A.,
Clark A.G.,
Waterman M.S.,
Eichler E.E.,
Adams M.D.,
Hunkapiller M.W.,
Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
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[10]
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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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[11]
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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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[12]
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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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[13]
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IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J.,
Superti-Furga G.,
Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
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[14]
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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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[15]
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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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[16]
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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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[17]
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VARIANTS HOGA LYS-54 AND MET-332.
DOI=10.1073/pnas.85.11.3777; 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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[18]
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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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[19]
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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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[20]
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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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[21]
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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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[22]
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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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