Literature DB >> 12126939

Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).

Jennifer R Toone1, Derek A Applegarth, Shigeo Kure, Marion B Coulter-Mackie, Payam Sazegar, Kanako Kojima, Akiko Ichinohe.   

Abstract

Eight novel mutations were found in the P-protein (glycine decarboxylase) gene (GLDC) of the glycine cleavage system (EC 2.1.1.10) by screening five exons of the gene in patients with glycine encephalopathy (NKH). The mutations identified were of eight single base changes: a one-base deletion 1054del A, a splice site mutation IVS18-2A-->G and six amino acid substitutions A283P, A313P, P329T, R410K, P700A, and G762R.

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Year:  2002        PMID： 12126939     DOI： 10.1016/s1096-7192(02)00041-0

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  6 in total

1.  Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia.

Authors:  Tadashi Nakai; Noriko Nakagawa; Nobuko Maoka; Ryoji Masui; Seiki Kuramitsu; Nobuo Kamiya
Journal:  EMBO J       Date:  2005-03-24       Impact factor: 11.598

2.  Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.

Authors:  C Conter; M O Rolland; D Cheillan; V Bonnet; I Maire; R Froissart
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

3.  Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.

Authors:  Ayumi Narisawa; Shoko Komatsuzaki; Atsuo Kikuchi; Tetsuya Niihori; Yoko Aoki; Kazuko Fujiwara; Mitsuyo Tanemura; Akira Hata; Yoichi Suzuki; Caroline L Relton; James Grinham; Kit-Yi Leung; Darren Partridge; Alexis Robinson; Victoria Stone; Peter Gustavsson; Philip Stanier; Andrew J Copp; Nicholas D E Greene; Teiji Tominaga; Yoichi Matsubara; Shigeo Kure
Journal:  Hum Mol Genet       Date:  2011-12-13       Impact factor: 6.150

4.  A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia.

Authors:  Engin Kose; Uluc Yis; Semra Hiz; Nur Arslan
Journal:  Neurosciences (Riyadh)       Date:  2017-04       Impact factor: 0.906

5.  A Metabolic Trade-Off Modulates Policing of Social Cheaters in Populations of Pseudomonas aeruginosa.

Authors:  Huicong Yan; Meizhen Wang; Feng Sun; Ajai A Dandekar; Dongsheng Shen; Na Li
Journal:  Front Microbiol       Date:  2018-02-27       Impact factor: 5.640

6.  The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Authors:  Curtis R Coughlin; Michael A Swanson; Kathryn Kronquist; Cécile Acquaviva; Tim Hutchin; Pilar Rodríguez-Pombo; Marja-Leena Väisänen; Elaine Spector; Geralyn Creadon-Swindell; Ana M Brás-Goldberg; Elisa Rahikkala; Jukka S Moilanen; Vincent Mahieu; Gert Matthijs; Irene Bravo-Alonso; Celia Pérez-Cerdá; Magdalena Ugarte; Christine Vianey-Saban; Gunter H Scharer; Johan L K Van Hove
Journal:  Genet Med       Date:  2016-06-30       Impact factor: 8.822
  6 in total

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