| 1 | AMT, GLDC
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| Genetic association of the glycine cleavage system genes and myelomeningocele.
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| Shah RH, Northrup H, Hixson JE, Morrison AC, Au KS.
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| Birth Defects Res A Clin Mol Teratol 106(10):847-853. doi: 10.1002/bdra.23552.
2016
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| 2 | AMT, GCE2, GCE3, GLDC
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| Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.
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| Azize NA, Ngah WZ, Othman Z, Md Desa N, Chin CB, Md Yunus Z, Mohan A, Hean TS, Syed Zakaria SZ, Lock-Hock N.
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| J Hum Genet 59(11):593-7. doi: 10.1038/jhg.2014.69.
2014
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| 3 | AMT
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| Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
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| Narisawa A, Komatsuzaki S, Kikuchi A, Niihori T, Aoki Y, Fujiwara K, Tanemura M, Hata A, Suzuki Y, Relton CL, Grinham J, Leung KY, Partridge D, Robinson A, Stone V, Gustavsson P, Stanier P, Copp AJ, Greene ND, Tominaga T, Matsubara Y, Kure S.
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| Hum Mol Genet 21(7):1496-503. doi: 10.1093/hmg/ddr585.
2012
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| 4 | AMT, GCE1, GCE2, GCE3, GCSH, GLDC
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| Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).
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| Kure S.
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| Brain Dev 33(9):753-7. doi: 10.1016/j.braindev.2011.03.001. Review.
2011
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| 5 | AMT, GCSH, GLDC
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| Glycine cleavage enzyme complex: molecular cloning and expression of the H-protein cDNA from cultured human skin fibroblasts.
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| Zay A, Choy FY, Patrick C, Sinclair G.
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| Biochem Cell Biol 89(3):299-307. doi: 10.1139/O10-156.
2011
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| 6 | AMT, GCE1, GCE2, GCE3, GCSH, GLDC
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| Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
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| Kure S, Kato K, Dinopoulos A, Gail C, DeGrauw TJ, Christodoulou J, Bzduch V, Kalmanchey R, Fekete G, Trojovsky A, Plecko B, Breningstall G, Tohyama J, Aoki Y, Matsubara Y.
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| Hum Mutat 27(4):343-52.
2006
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| 7 | AMT
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| Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.
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| Okamura-Ikeda K, Hosaka H, Yoshimura M, Yamashita E, Toma S, Nakagawa A, Fujiwara K, Motokawa Y, Taniguchi H.
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| J Mol Biol 351(5):1146-59.
2005
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| 8 | AMT
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| Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).
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| Toone JR, Applegarth DA, Levy HL, Coulter-Mackie MB, Lee G.
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| Mol Genet Metab 79(4):272-80. 2003
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| 9 | AMT, GLDC, NKH1, NKH2
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| 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).
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| Toone JR, Applegarth DA, Coulter-Mackie MB, James ER.
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| Mol Genet Metab 72(4):322-5. 2001
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| 10 | AMT, NKH2
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| A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.
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| Kure S, et al.
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| Hum Genet 102 : 430-434. 1998
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| 11 | AMT, NKH2
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| Structure and chromosomal localization of the aminomethyltransferase gene (AMT).
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| Nanao K, et al.
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| Genomics 19 : 27-30. 1994
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| 12 | NKH1, AMT, NKH2
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| Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.
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| Nanao K, et al.
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| Hum Genet 93 : 655-658. 1994
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