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Year | Number of Results |
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1982 | 1 |
2002 | 1 |
2003 | 2 |
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2013 | 1 |
2016 | 1 |
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PubMed for id: 74714699
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Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
Hum Mutat. 2016 Jul;37(7):679-94. doi: 10.1002/humu.22995. Epub 2016 May 6.
Hum Mutat. 2016.
PMID: 27037498
Crystal structure of the N-acetyltransferase domain of human N-acetyl-L-glutamate synthase in complex with N-acetyl-L-glutamate provides insights into its catalytic and regulatory mechanisms.
Zhao G, Jin Z, Allewell NM, Tuchman M, Shi D.
Zhao G, et al.
PLoS One. 2013 Jul 24;8(7):e70369. doi: 10.1371/journal.pone.0070369. Print 2013.
PLoS One. 2013.
PMID: 23894642
Free PMC article.
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Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.
Schmidt E, Nuoffer JM, Häberle J, Pauli S, Guffon N, Vianey-Saban C, Wermuth B, Koch HG.
Schmidt E, et al.
Biochim Biophys Acta. 2005 Apr 15;1740(1):54-9. doi: 10.1016/j.bbadis.2005.02.006. Epub 2005 Feb 24.
Biochim Biophys Acta. 2005.
PMID: 15878741
Free article.
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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 TO, 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, Fuj…
See abstract for full author list ➔
Ota T, et al.
Nat Genet. 2004 Jan;36(1):40-5. doi: 10.1038/ng1285. Epub 2003 Dec 21.
Nat Genet. 2004.
PMID: 14702039
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Mutation analysis in patients with N-acetylglutamate synthase deficiency.
Häberle J, Schmidt E, Pauli S, Kreuder JG, Plecko B, Galler A, Wermuth B, Harms E, Koch HG.
Häberle J, et al.
Hum Mutat. 2003 Jun;21(6):593-7. doi: 10.1002/humu.10216.
Hum Mutat. 2003.
PMID: 12754705
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Cloning and expression of the human N-acetylglutamate synthase gene.
Caldovic L, Morizono H, Gracia Panglao M, Gallegos R, Yu X, Shi D, Malamy MH, Allewell NM, Tuchman M.
Caldovic L, et al.
Biochem Biophys Res Commun. 2002 Dec 13;299(4):581-6. doi: 10.1016/s0006-291x(02)02696-7.
Biochem Biophys Res Commun. 2002.
PMID: 12459178
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Purification and properties of acetyl-CoA:L-glutamate N-acetyltransferase from human liver.
Bachmann C, Krähenbühl S, Colombo JP.
Bachmann C, et al.
Biochem J. 1982 Jul 1;205(1):123-7. doi: 10.1042/bj2050123.
Biochem J. 1982.
PMID: 7126172
Free PMC article.
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