Reference on EC 2.1.2.10 - aminomethyltransferase and Organism(s) Homo sapiens and UniProt Accession P48728
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AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Toone, J.R.; Applegarth, D.A.; Coulter-Mackie, M.B.; James, E.R.
Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): A strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH)
Mol. Genet. Metab.
72
322-325
2001
Homo sapiens
Backofen, B.; Leeb, T.
Genomic organization of the murine aminomethyltransferase gene (Amt)
DNA Seq.
13
179-183
2002
Homo sapiens, Mus musculus
Okamura-Ikeda, K.; Hosaka, H.; Yoshimura, M.; Yamashita, E.; Toma, S.; Nakagawa, A.; Fujiwara, K.; Motokawa, Y.; Taniguchi, H.
Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia
J. Mol. Biol.
351
1146-1159
2005
Homo sapiens (P48728)
Toone, J.R.; Applegarth, D.A.; Levy, H.L.; Coulter-Mackie, M.B.; Lee, G.
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH)
Mol. Genet. Metab.
79
272-280
2003
Homo sapiens
Kikuchi, G.; Motokawa, Y.; Yoshida, T.; Hiraga, K.
Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia
Proc. Jpn. Acad. Ser. B Phys. Biol. Sci.
84
246-263
2008
Escherichia coli, Homo sapiens, Pisum sativum
Azize, N.A.; Ngah, W.Z.; Othman, Z.; Md Desa, N.; Chin, C.B.; Md Yunus, Z.; Mohan, A.; Hean, T.S.; Syed Zakaria, S.Z.; Lock-Hock, N.
Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy
J. Hum. Genet.
59
593-597
2014
Homo sapiens
Gencpinar, P.; Cavusoglu, D.; Oezbeyler, O.e.; Kaya, O.O.; Baydan, F.; Olgac Dundar, N.
Nonketotic hyperglycinemia novel mutation in the aminomethyl transferase gene. Case report
Arch. Argent. Pediatr.
114
e142-e146
2016
Homo sapiens
