| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Junko Kanno, Tim Hutchin, Fumiaki Kamada, Ayumi Narisawa, Yoko Aoki, Yoichi Matsubara, Shigeo Kur. Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. Journal of medical genetics. vol 44. issue 3. 2007-04-12. PMID:17361008. |
most patients are deficient of the enzymatic activity of glycine decarboxylase, which is encoded by gldc. |
2007-04-12 |
2023-08-12 |
Not clear |
| Shigeo Kure, Kumi Kato, Agirios Dinopoulos, Chuck Gail, Ton J DeGrauw, John Christodoulou, Vladimir Bzduch, Rozalia Kalmanchey, Gyorgy Fekete, Alex Trojovsky, Barbara Plecko, Galen Breningstall, Jun Tohyama, Yoko Aoki, Yoichi Matsubar. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Human mutation. vol 27. issue 4. 2006-12-26. PMID:16450403. |
nkh is caused by deficiency of the glycine cleavage multi-enzyme system with three specific components encoded by gldc, amt, and gcsh. |
2006-12-26 |
2023-08-12 |
Not clear |
| C Conter, M O Rolland, D Cheillan, V Bonnet, I Maire, R Froissar. Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy. Journal of inherited metabolic disease. vol 29. issue 1. 2006-10-16. PMID:16601880. |
genetic heterogeneity of the gldc gene in 28 unrelated patients with glycine encephalopathy. |
2006-10-16 |
2023-08-12 |
Not clear |
| C Conter, M O Rolland, D Cheillan, V Bonnet, I Maire, R Froissar. Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy. Journal of inherited metabolic disease. vol 29. issue 1. 2006-10-16. PMID:16601880. |
a p-protein (glycine decarboxylase or gldc) deficiency was reported in about 80% of nkh patients. |
2006-10-16 |
2023-08-12 |
Not clear |
| A Dinopoulos, S Kure, G Chuck, K Sato, D L Gilbert, Y Matsubara, T Degrau. Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults. Neurology. vol 64. issue 7. 2006-02-10. PMID:15824356. |
three unrelated adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase (gldc) mutations; two novel missense mutations (a389v and r739h) were found. |
2006-02-10 |
2023-08-12 |
Not clear |
| Argirios Dinopoulos, Yoichi Matsubara, Shigeo Kur. Atypical variants of nonketotic hyperglycinemia. Molecular genetics and metabolism. vol 86. issue 1-2. 2006-01-23. PMID:16157495. |
some of the gldc mutations are associated with residual glycine decarboxylase activity when expressed in cos7 cells and early therapeutic intervention may be crucial to improve the outcome in patients harboring such mutations. |
2006-01-23 |
2023-08-12 |
Not clear |
| H Flusser, S H Korman, K Sato, Y Matsubara, A Galil, S Kur. Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. Neurology. vol 64. issue 8. 2006-01-20. PMID:15851735. |
mild glycine encephalopathy (nkh) in a large kindred due to a silent exonic gldc splice mutation. |
2006-01-20 |
2023-08-12 |
Not clear |
| Avihu Boneh, Stanley H Korman, Kenichi Sato, Junko Kanno, Yoichi Matsubara, Israela Lerer, Ziva Ben-Neriah, Shigeo Kur. A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. Journal of human genetics. vol 50. issue 5. 2005-08-25. PMID:15864413. |
a single nucleotide substitution that abolishes the initiator methionine codon of the gldc gene is prevalent among patients with glycine encephalopathy in jerusalem. |
2005-08-25 |
2023-08-12 |
Not clear |
| Loryn Sellner, Edward Edkins, Lawrence Greed, Barry Lewi. Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia. Molecular genetics and metabolism. vol 84. issue 2. 2005-07-05. PMID:15670722. |
the majority of cases are caused by mutations in the p-protein, one of the four components of the glycine cleavage enzyme, also known as glycine decarboxylase (gldc). |
2005-07-05 |
2023-08-12 |
human |
| Jennifer R Toone, Derek A Applegarth, Shigeo Kure, Marion B Coulter-Mackie, Payam Sazegar, Kanako Kojima, Akiko Ichinoh. Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia). Molecular genetics and metabolism. vol 76. issue 3. 2003-03-04. PMID:12126939. |
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). |
2003-03-04 |
2023-08-12 |
Not clear |
| M Takayanagi, S Kure, Y Sakata, Y Kurihara, Y Ohya, M Kajita, K Tada, Y Matsubara, K Narisaw. Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia. Human genetics. vol 106. issue 3. 2000-05-23. PMID:10798358. |
human glycine decarboxylase gene (gldc) and its highly conserved processed pseudogene (psigldc): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia. |
2000-05-23 |
2023-08-12 |
human |
| M Takayanagi, S Kure, Y Sakata, Y Kurihara, Y Ohya, M Kajita, K Tada, Y Matsubara, K Narisaw. Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia. Human genetics. vol 106. issue 3. 2000-05-23. PMID:10798358. |
mutations in the glycine decarboxylase gene (gldc) cause nonketotic hyperglycinemia (nkh), an in-born error of metabolism characterized by severe neurological disturbance. |
2000-05-23 |
2023-08-12 |
human |
| T Shinka, S Kure, Y Sakata, M Takayanagi, Y Matsubara, K Narisaw. Assignment of Gldc encoding glycine decarboxylase to mouse chromosome 19C by in situ hybridization and a CA repeat polymorphism in the Gldc gene. Cytogenetics and cell genetics. vol 83. issue 3-4. 1999-03-30. PMID:10072599. |
assignment of gldc encoding glycine decarboxylase to mouse chromosome 19c by in situ hybridization and a ca repeat polymorphism in the gldc gene. |
1999-03-30 |
2023-08-12 |
mouse |