[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Brain, and Liver;
DOI=10.1016/0006-291X(87)90381-0; PubMed=3426581 [NCBI, ExPASy, EBI, Israel, Japan]
Nakatani Y.,
Banner C.,
von Herrat M.,
Schneider M.E.,
Smith H.H.,
Freese E.;
"Comparison of human brain and liver glutamate dehydrogenase cDNAS.";
Biochem. Biophys. Res. Commun. 149:405-410(1987).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
DOI=10.1016/S0006-291X(88)80440-6; PubMed=3377777 [NCBI, ExPASy, EBI, Israel, Japan]
Amuro N.,
Yamaura M.,
Goto Y.,
Okazaki T.;
"Molecular cloning and nucleotide sequence of the cDNA for human liver glutamate dehydrogenase precursor.";
Biochem. Biophys. Res. Commun. 152:1395-1400(1988).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1093/nar/16.13.6237; PubMed=3399399 [NCBI, ExPASy, EBI, Israel, Japan]
Nakatani Y.,
Schneider M.E.,
Banner C.,
Freese E.;
"Complete nucleotide sequence of human glutamate dehydrogenase cDNA.";
Nucleic Acids Res. 16:6237-6237(1988).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
PubMed=3368458 [NCBI, ExPASy, EBI, Israel, Japan]
Mavrothalassitis G.,
Tzimagiorgis G.,
Mitsialis A.,
Zannis V.,
Plaitakis A.,
Papamatheakis J.,
Moschonas N.;
"Isolation and characterization of cDNA clones encoding human liver glutamate dehydrogenase: evidence for a small gene family.";
Proc. Natl. Acad. Sci. U.S.A. 85:3494-3498(1988).
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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Placenta;
DOI=10.1006/geno.1993.1152; PubMed=8486350 [NCBI, ExPASy, EBI, Israel, Japan]
Michaelidis T.M.,
Tzimagiorgis G.,
Moschonas N.K.,
Papamatheakis J.;
"The human glutamate dehydrogenase gene family: gene organization and structural characterization.";
Genomics 16:150-160(1993).
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[6]
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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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[7]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Duodenum, and Eye;
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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[8]
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PROTEIN SEQUENCE OF 54-558.
TISSUE=Liver;
PubMed=429360 [NCBI, ExPASy, EBI, Israel, Japan]
Julliard J.H.,
Smith E.L.;
"Partial amino acid sequence of the glutamate dehydrogenase of human liver and a revision of the sequence of the bovine enzyme.";
J. Biol. Chem. 254:3427-3438(1979).
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[9]
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PROTEIN SEQUENCE OF 54-69.
TISSUE=Liver;
PubMed=1286669 [NCBI, ExPASy, EBI, Israel, Japan]
Hochstrasser D.F.,
Frutiger S.,
Paquet N.,
Bairoch A.,
Ravier F.,
Pasquali C.,
Sanchez J.-C.,
Tissot J.-D.,
Bjellqvist B.,
Vargas R.,
Appel R.D.,
Hughes G.J.;
"Human liver protein map: a reference database established by microsequencing and gel comparison.";
Electrophoresis 13:992-1001(1992).
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[10]
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NUCLEOTIDE SEQUENCE [MRNA] OF 301-558.
TISSUE=Brain;
PubMed=3585334 [NCBI, ExPASy, EBI, Israel, Japan]
Banner C.,
Silverman S.,
Thomas J.W.,
Lampel K.A.,
Vitkovic L.,
Huie D.,
Wenthold R.J.;
"Isolation of a human brain cDNA for glutamate dehydrogenase.";
J. Neurochem. 49:246-252(1987).
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[11]
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PROTEIN SEQUENCE OF 481-496, AND MASS SPECTROMETRY.
TISSUE=Brain, and Cajal-Retzius cell;
Lubec G.,
Vishwanath V.;
Submitted (MAR-2007) to UniProtKB.
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[12]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 540-558.
DOI=10.1007/BF00217767; PubMed=8314555 [NCBI, ExPASy, EBI, Israel, Japan]
Tzimagiorgis G.,
Leversha M.A.,
Chroniary K.,
Goulielmos G.,
Sargent C.A.,
Ferguson-Smith M.,
Moschonas N.K.;
"Structure and expression analysis of a member of the human glutamate dehydrogenase (GLUD) gene family mapped to chromosome 10p11.2.";
Hum. Genet. 91:433-438(1993).
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[13]
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CHARACTERIZATION OF VARIANT TYR-507, AND ALLOSTERIC REGULATION.
DOI=10.1006/jmbi.2001.4499; PubMed=11254391 [NCBI, ExPASy, EBI, Israel, Japan]
Smith T.J.,
Peterson P.E.,
Schmidt T.,
Fang J.,
Stanley C.A.;
"Structures of bovine glutamate dehydrogenase complexes elucidate the mechanism of purine regulation.";
J. Mol. Biol. 307:707-720(2001).
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[14]
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MUTAGENESIS OF SER-501 AND ARG-516, CHARACTERIZATION OF VARIANT TYR-507, AND ALLOSTERIC REGULATION.
DOI=10.1042/0264-6021:3630081; PubMed=11903050 [NCBI, ExPASy, EBI, Israel, Japan]
Fang J.,
Hsu B.Y.L.,
MacMullen C.M.,
Poncz M.,
Smith T.J.,
Stanley C.A.;
"Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations.";
Biochem. J. 363:81-87(2002).
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[15]
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X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 54-558.
DOI=10.1016/S0022-2836(02)00161-4; PubMed=12054821 [NCBI, ExPASy, EBI, Israel, Japan]
Smith T.J.,
Schmidt T.,
Fang J.,
Wu J.,
Siuzdak G.,
Stanley C.A.;
"The structure of apo human glutamate dehydrogenase details subunit communication and allostery.";
J. Mol. Biol. 318:765-777(2002).
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[16]
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X-RAY CRYSTALLOGRAPHY (3.3 ANGSTROMS) OF 63-558 OF MUTANT ALA-516, AND ALLOSTERIC REGULATION.
DOI=10.1021/bi0206917; PubMed=12653548 [NCBI, ExPASy, EBI, Israel, Japan]
Banerjee S.,
Schmidt T.,
Fang J.,
Stanley C.A.,
Smith T.J.;
"Structural studies on ADP activation of mammalian glutamate dehydrogenase and the evolution of regulation.";
Biochemistry 42:3446-3456(2003).
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[17]
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REVIEW ON VARIANTS.
DOI=10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.3.CO;2-I; PubMed=10338089 [NCBI, ExPASy, EBI, Israel, Japan]
Meissner T.,
Beinbrech B.,
Mayatepek E.;
"Congenital hyperinsulinism: molecular basis of a heterogeneous disease.";
Hum. Mutat. 13:351-361(1999).
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[18]
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VARIANTS HHS LEU-498; SER-499; ASP-499; PRO-501 AND TYR-507.
DOI=10.1056/NEJM199805073381904; PubMed=9571255 [NCBI, ExPASy, EBI, Israel, Japan]
Stanley C.A.,
Lieu Y.K.,
Hsu B.Y.L.,
Burlina A.B.,
Greenberg C.R.,
Hopwood N.J.,
Perlman K.,
Rich B.H.,
Zammarchi E.,
Poncz M.;
"Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.";
N. Engl. J. Med. 338:1352-1357(1998).
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[19]
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VARIANTS HHS LYS-318 AND ALA-349.
DOI=10.1016/S0022-3476(00)90052-0; PubMed=10636977 [NCBI, ExPASy, EBI, Israel, Japan]
Miki Y.,
Taki T.,
Ohura T.,
Kato H.,
Yanagisawa M.,
Hayashi Y.;
"Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome.";
J. Pediatr. 136:69-72(2000).
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[20]
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VARIANTS HHS CYS-274 AND HIS-322.
DOI=10.1007/s004390000432; PubMed=11214910 [NCBI, ExPASy, EBI, Israel, Japan]
Santer R.,
Kinner M.,
Passarge M.,
Superti-Furga A.,
Mayatepek E.,
Meissner T.,
Schneppenheim R.,
Schaub J.;
"Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.";
Hum. Genet. 108:66-71(2001).
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[21]
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VARIANTS HHS CYS-270; CYS-274; THR-318; CYS-319; CYS-322 AND HIS-322.
DOI=10.1210/jc.86.4.1782; PubMed=11297618 [NCBI, ExPASy, EBI, Israel, Japan]
MacMullen C.,
Fang J.,
Hsu B.Y.L.,
Kelly A.,
de Lonlay-Debeney P.,
Saudubray J.-M.,
Ganguly A.,
Smith T.J.,
Stanley C.A.,
Brown R.,
Buist N.,
Dasouki M.,
Fefferman R.,
Grange D.,
Karaviti L.,
Luedke C.,
Marriage B.,
McLaughlin J.,
Perlman K., ![]()
Seashore M.,
van Vliet G.;
"Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.";
J. Clin. Endocrinol. Metab. 86:1782-1787(2001).
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