"Cloning and nucleotide sequence of cDNA encoding human liver serine-pyruvate aminotransferase."
Nishiyama K. , Berstein G. , Oda T. , Ichiyama A.
Eur. J. Biochem.194:9-18(1990) [PubMed] [Europe PMC] [Abstract]

"Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1."
Purdue P.E. , Takada Y. , Danpure C.J.
J. Cell Biol.111:2341-2351(1990) [PubMed] [Europe PMC] [Abstract]

"Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon."
Takada Y. , Kaneko N. , Esumi H. , Purdue P.E. , Danpure C.J.
Biochem. J.268:517-520(1990) [PubMed] [Europe PMC] [Abstract]

"Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase."
Purdue P.E. , Lumb M.J. , Fox M. , Griffo G. , Hamon-Benais C. , Povey S. , Danpure C.J.
Genomics10:34-42(1991) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
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. more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W. , Graves T.A. , Fulton R.S. , Fulton L.A. , Pepin K.H. , Minx P. , Wagner-McPherson C. , Layman D. , Wylie K. , Sekhon M. , Becker M.C. , Fewell G.A. , Delehaunty K.D. , Miner T.L. , Nash W.E. , Kremitzki C. , Oddy L. , Du H. , Sun H. , Bradshaw-Cordum H. , Ali J. , Carter J. , Cordes M. , Harris A. , Isak A. , van Brunt A. , Nguyen C. , Du F. , Courtney L. , Kalicki J. , Ozersky P. , Abbott S. , Armstrong J. , Belter E.A. , Caruso L. , Cedroni M. , Cotton M. , Davidson T. , Desai A. , Elliott G. , Erb T. , Fronick C. , Gaige T. , Haakenson W. , Haglund K. , Holmes A. , Harkins R. , Kim K. , Kruchowski S.S. , Strong C.M. , Grewal N. , Goyea E. , Hou S. , Levy A. , Martinka S. , Mead K. , McLellan M.D. , Meyer R. , Randall-Maher J. , Tomlinson C. , Dauphin-Kohlberg S. , Kozlowicz-Reilly A. , Shah N. , Swearengen-Shahid S. , Snider J. , Strong J.T. , Thompson J. , Yoakum M. , Leonard S. , Pearman C. , Trani L. , Radionenko M. , Waligorski J.E. , Wang C. , Rock S.M. , Tin-Wollam A.-M. , Maupin R. , Latreille P. , Wendl M.C. , Yang S.-P. , Pohl C. , Wallis J.W. , Spieth J. , Bieri T.A. , Berkowicz N. , Nelson J.O. , Osborne J. , Ding L. , Meyer R. , Sabo A. , Shotland Y. , Sinha P. , Wohldmann P.E. , Cook L.L. , Hickenbotham M.T. , Eldred J. , Williams D. , Jones T.A. , She X. , Ciccarelli F.D. , Izaurralde E. , Taylor J. , Schmutz J. , Myers R.M. , Cox D.R. , Huang X. , McPherson J.D. , Mardis E.R. , Clifton S.W. , Warren W.C. , Chinwalla A.T. , Eddy S.R. , Marra M.A. , Ovcharenko I. , Furey T.S. , Miller W. , Eichler E.E. , Bork P. , Suyama M. , Torrents D. , Waterston R.H. , Wilson R.K. more...
Nature434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

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. more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1."
Zhang X. , Roe S.M. , Hou Y. , Bartlam M. , Rao Z. , Pearl L.H. , Danpure C.J.
J. Mol. Biol.331:643-652(2003) [PubMed] [Europe PMC] [Abstract]

"Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene."
Nishiyama K. , Funai T. , Katafuchi R. , Hattori F. , Onoyama K. , Ichiyama A.
Biochem. Biophys. Res. Commun.176:1093-1099(1991) [PubMed] [Europe PMC] [Abstract]

"A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1."
Purdue P.E. , Lumb M.J. , Allsop J. , Minatogawa Y. , Danpure C.J.
Genomics13:215-218(1992) [PubMed] [Europe PMC] [Abstract]

"A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1."
Minatogawa Y. , Tone S. , Allsop J. , Purdue P.E. , Takada Y. , Danpure C.J. , Kido R.
Hum. Mol. Genet.1:643-644(1992) [PubMed] [Europe PMC] [Abstract]

"Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation."
Danpure C.J. , Purdue P.E. , Fryer P. , Griffiths S. , Allsop J. , Lumb M.J. , Guttridge K.M. , Jennings P.R. , Scheinman J.I. , Mauer S.M. , Davidson N.O.
Am. J. Hum. Genet.53:417-432(1993) [PubMed] [Europe PMC] [Abstract]

"Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase."
Danpure C.J.
Biochimie75:309-315(1993) [PubMed] [Europe PMC] [Abstract]

"Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene."
von Schnakenburg C. , Rumsby G.
J. Med. Genet.34:489-492(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of new mutations in primary hyperoxaluria type 1 (PH1)."
von Schnakenburg C. , Rumsby G.
J. Nephrol.11:15-17(1998) [PubMed] [Europe PMC] [Abstract]

"Gene symbol: AGXT. Disease: primary hyperoxaluria type I."
Amoroso A. , Pirulli D. , Puzzer D. , Ferri L. , Crovella S. , Ferrettini C. , Marangella M. , Mazzola G. , Florian F.
Hum. Genet.104:441-441(1999) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene."
Pirulli D. , Puzzer D. , Ferri L. , Crovella S. , Amoroso A. , Ferrettini C. , Marangella M. , Mazzola G. , Florian F.
Hum. Genet.104:523-525(1999) [PubMed] [Europe PMC] [Abstract]

"Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group."
Rinat C. , Wanders R.J.A. , Drukker A. , Halle D. , Frishberg Y.
J. Am. Soc. Nephrol.10:2352-2358(1999) [PubMed] [Europe PMC] [Abstract]

"Identification of 5 novel mutations in the AGXT gene."
Basmaison O. , Rolland M.-O. , Cochat P. , Bozon D.
Hum. Mutat.15:577-577(2000) [PubMed] [Europe PMC] [Abstract]

"Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations."
Lumb M.J. , Danpure C.J.
J. Biol. Chem.275:36415-36422(2000) [PubMed] [Europe PMC] [Abstract]

"The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans."
Coulter-Mackie M.B. , Tung A. , Henderson H.E. , Toone J.R. , Applegarth D.A.
Mol. Genet. Metab.78:44-50(2003) [PubMed] [Europe PMC] [Abstract]

"Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase."
Santana A. , Salido E. , Torres A. , Shapiro L.J.
Proc. Natl. Acad. Sci. U.S.A.100:7277-7282(2003) [PubMed] [Europe PMC] [Abstract]

"Clinical implications of mutation analysis in primary hyperoxaluria type 1."
van Woerden C.S. , Groothoff J.W. , Wijburg F.A. , Annink C. , Wanders R.J.A. , Waterham H.R.
Kidney Int.66:746-752(2004) [PubMed] [Europe PMC] [Abstract]

"Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria."
Monico C.G. , Olson J.B. , Milliner D.S.
Am. J. Nephrol.25:183-188(2005) [PubMed] [Europe PMC] [Abstract]

"Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel."
Frishberg Y. , Rinat C. , Shalata A. , Khatib I. , Feinstein S. , Becker-Cohen R. , Weismann I. , Wanders R.J.A. , Rumsby G. , Roels F. , Mandel H.
Am. J. Nephrol.25:269-275(2005) [PubMed] [Europe PMC] [Abstract]

"The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1."
Coulter-Mackie M.B. , Lian Q. , Applegarth D. , Toone J.
Mol. Genet. Metab.86:172-178(2005) [PubMed] [Europe PMC] [Abstract]