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Volumn 6, Issue , 2015, Pages

Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice

Author keywords

[No Author keywords available]

Indexed keywords

FOLIC ACID; FORMIC ACID; GENOMIC DNA; GLYCINE CLEAVAGE SYSTEM; GLYCINE DEHYDROGENASE (DECARBOXYLATING); LIVER ENZYME; MESSENGER RNA; 5-BROMO-4-CHLORO-3-INDOLYL BETA-GALACTOSIDE; FORMIC ACID DERIVATIVE; GALACTOSIDE; GLYCINE; INDOLE DERIVATIVE; PRIMER DNA;

EID: 84924209564     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms7388     Document Type: Article
Times cited : (109)

References (42)
  • 1
    • 84894127457 scopus 로고    scopus 로고
    • Glycine decarboxylase is an unusual amino acid decarboxylase involved in tumorigenesis
    • Go, M. K., Zhang, W. C., Lim, B. & Yew, W. S. Glycine decarboxylase is an unusual amino acid decarboxylase involved in tumorigenesis. Biochemistry 53, 947-956 (2014).
    • (2014) Biochemistry , vol.53 , pp. 947-956
    • Go, M.K.1    Zhang, W.C.2    Lim, B.3    Yew, W.S.4
  • 2
    • 77955616558 scopus 로고    scopus 로고
    • Compartmentalization of mammalian folatemediated one-carbon metabolism
    • Tibbetts, A. S. & Appling, D. R. Compartmentalization of mammalian folatemediated one-carbon metabolism. Annu. Rev. Nutr. 30, 57-81 (2010).
    • (2010) Annu. Rev. Nutr. , vol.30 , pp. 57-81
    • Tibbetts, A.S.1    Appling, D.R.2
  • 3
    • 64049109319 scopus 로고    scopus 로고
    • Production of 1-carbon units from glycine is extensive in healthy men and women
    • Lamers, Y. et al. Production of 1-carbon units from glycine is extensive in healthy men and women. J. Nutr. 139, 666-671 (2009).
    • (2009) J. Nutr. , vol.139 , pp. 666-671
    • Lamers, Y.1
  • 4
    • 84856087055 scopus 로고    scopus 로고
    • Glycine decarboxylase activity drives non-small cell lung cancer tumor-initiating cells and tumorigenesis
    • Zhang, W. C. et al. Glycine decarboxylase activity drives non-small cell lung cancer tumor-initiating cells and tumorigenesis. Cell 148, 259-272 (2012).
    • (2012) Cell , vol.148 , pp. 259-272
    • Zhang, W.C.1
  • 5
    • 30144439605 scopus 로고    scopus 로고
    • Glycine encephalopathy (nonketotic hyperglycinemia): Comments and speculations
    • Applegarth, D. A. & Toone, J. R. Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations. Am. J. Med. Genet. A 140, 186-188 (2006).
    • (2006) Am. J. Med. Genet. A , vol.140 , pp. 186-188
    • Applegarth, D.A.1    Toone, J.R.2
  • 6
    • 17644367791 scopus 로고    scopus 로고
    • A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem
    • Boneh, A. et al. A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. J. Hum. Genet. 50, 230-234 (2005).
    • (2005) J. Hum. Genet. , vol.50 , pp. 230-234
    • Boneh, A.1
  • 7
    • 8844270815 scopus 로고    scopus 로고
    • Natural history of nonketotic hyperglycinemia in 65 patients
    • Hoover-Fong, J. E. et al. Natural history of nonketotic hyperglycinemia in 65 patients. Neurology 63, 1847-1853 (2004).
    • (2004) Neurology , vol.63 , pp. 1847-1853
    • Hoover-Fong, J.E.1
  • 8
    • 33645787595 scopus 로고    scopus 로고
    • Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia
    • Kure, S. et al. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Hum. Mutat. 27, 343-352 (2006).
    • (2006) Hum. Mutat. , vol.27 , pp. 343-352
    • Kure, S.1
  • 9
    • 84880329695 scopus 로고    scopus 로고
    • Neural tube defects: Recent advances, unsolved questions, and controversies
    • Copp, A. J., Stanier, P. & Greene, N. D. Neural tube defects: recent advances, unsolved questions, and controversies. Lancet Neurol. 12, 799-810 (2013).
    • (2013) Lancet Neurol. , vol.12 , pp. 799-810
    • Copp, A.J.1    Stanier, P.2    Greene, N.D.3
  • 11
    • 65349180183 scopus 로고    scopus 로고
    • Periconceptional folic acid and multivitamin supplementation for the prevention of neural tube defects and other congenital abnormalities
    • Czeizel, A. E. Periconceptional folic acid and multivitamin supplementation for the prevention of neural tube defects and other congenital abnormalities. Birth Defects Res. A Clin. Mol. Teratol. 85, 260-268 (2009).
    • (2009) Birth Defects Res. A Clin. Mol. Teratol. , vol.85 , pp. 260-268
    • Czeizel, A.E.1
  • 13
    • 34249690574 scopus 로고    scopus 로고
    • Abnormal folate metabolism in foetuses affected by neural tube defects
    • Dunlevy, L. P. E. et al. Abnormal folate metabolism in foetuses affected by neural tube defects. Brain 130, 1043-1049 (2007).
    • (2007) Brain , vol.130 , pp. 1043-1049
    • Dunlevy, L.P.E.1
  • 14
    • 84858189393 scopus 로고    scopus 로고
    • Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans
    • Narisawa, A. et al. Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans. Hum. Mol. Genet. 21, 1496-1503 (2012).
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 1496-1503
    • Narisawa, A.1
  • 16
    • 2442514296 scopus 로고    scopus 로고
    • Glycine cleavage system in neurogenic regions
    • Ichinohe, A. et al. Glycine cleavage system in neurogenic regions. Eur. J. Neurosci. 19, 2365-2370 (2004).
    • (2004) Eur. J. Neurosci. , vol.19 , pp. 2365-2370
    • Ichinohe, A.1
  • 17
    • 64849104728 scopus 로고    scopus 로고
    • Development of the vertebrate central nervous system: Formation of the neural tube
    • Greene, N. D. & Copp, A. J. Development of the vertebrate central nervous system: formation of the neural tube. Prenatal. Diag. 29, 303-311 (2009).
    • (2009) Prenatal. Diag. , vol.29 , pp. 303-311
    • Greene, N.D.1    Copp, A.J.2
  • 18
    • 84867683395 scopus 로고    scopus 로고
    • Hypothesis: The female excess in cranial neural tube defects reflects an epigenetic drag of the inactivating X chromosome on the molecular mechanisms of neural fold elevation
    • Juriloff, D. M. & Harris, M. J. Hypothesis: the female excess in cranial neural tube defects reflects an epigenetic drag of the inactivating X chromosome on the molecular mechanisms of neural fold elevation. Birth Defects Res. A Clin. Mol. Teratol. 94, 849-855 (2012).
    • (2012) Birth Defects Res. A Clin. Mol. Teratol. , vol.94 , pp. 849-855
    • Juriloff, D.M.1    Harris, M.J.2
  • 19
    • 33845727585 scopus 로고    scopus 로고
    • In silico experimentation with a model of hepatic mitochondrial folate metabolism
    • Nijhout, H. F. et al. In silico experimentation with a model of hepatic mitochondrial folate metabolism. Theor. Biol. Med. Model 3, 40 (2006).
    • (2006) Theor. Biol. Med. Model , vol.3 , pp. 40
    • Nijhout, H.F.1
  • 20
    • 56049094808 scopus 로고    scopus 로고
    • Gene-environment interactions in the causation of neural tube defects: Folate deficiency increases susceptibility conferred by loss of Pax3 function
    • Burren, K. A. et al. Gene-environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function. Hum. Mol. Genet. 17, 3675-3685 (2008).
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 3675-3685
    • Burren, K.A.1
  • 21
    • 76749128395 scopus 로고    scopus 로고
    • The genetic background of the curly tail strain confers susceptibility to folate-deficiency-induced exencephaly
    • Burren, K. A., Scott, J. M., Copp, A. J. & Greene, N. D. The genetic background of the curly tail strain confers susceptibility to folate-deficiency-induced exencephaly. Birth Defects Res. A Clin. Mol. Teratol. 88, 76-83 (2010).
    • (2010) Birth Defects Res. A Clin. Mol. Teratol. , vol.88 , pp. 76-83
    • Burren, K.A.1    Scott, J.M.2    Copp, A.J.3    Greene, N.D.4
  • 22
    • 84924164169 scopus 로고    scopus 로고
    • Exome Aggregation Consortium (ExAC). http://exac.broadinstitute.org (2014).
    • (2014)
  • 24
    • 0031772484 scopus 로고    scopus 로고
    • One-methyl group metabolism in non-ketotic hyperglycinaemia: Mildly elevated cerebrospinal fluid homocysteine levels
    • Van Hove, J. L. et al. One-methyl group metabolism in non-ketotic hyperglycinaemia: mildly elevated cerebrospinal fluid homocysteine levels. J. Inherit. Metab. Dis. 21, 799-811 (1998).
    • (1998) J. Inherit. Metab. Dis. , vol.21 , pp. 799-811
    • Van Hove, J.L.1
  • 25
    • 77955536672 scopus 로고    scopus 로고
    • Nonketotic hyperglycinemia: Proposal of a diagnostic and treatment strategy
    • Suzuki, Y., Kure, S., Oota, M., Hino, H. & Fukuda, M. Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy. Pediatr. Neurol. 43, 221-224 (2010).
    • (2010) Pediatr. Neurol. , vol.43 , pp. 221-224
    • Suzuki, Y.1    Kure, S.2    Oota, M.3    Hino, H.4    Fukuda, M.5
  • 26
    • 0034620541 scopus 로고    scopus 로고
    • Acute hydrocephalus in nonketotic hyperglycemia
    • Van Hove, J. L. et al. Acute hydrocephalus in nonketotic hyperglycemia. Neurology 54, 754-756 (2000).
    • (2000) Neurology , vol.54 , pp. 754-756
    • Van Hove, J.L.1
  • 27
    • 58149154964 scopus 로고    scopus 로고
    • Nonketotic hyperglycinemia and acquired hydrocephalus
    • Yis, U., Kurul, S. H. & Dirik, E. Nonketotic hyperglycinemia and acquired hydrocephalus. Pediatr. Neurol. 40, 138-140 (2009).
    • (2009) Pediatr. Neurol. , vol.40 , pp. 138-140
    • Yis, U.1    Kurul, S.H.2    Dirik, E.3
  • 28
    • 32044454904 scopus 로고    scopus 로고
    • Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation
    • Korman, S. H. et al. Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation. Ann. Neurol. 59, 411-415 (2006).
    • (2006) Ann. Neurol. , vol.59 , pp. 411-415
    • Korman, S.H.1
  • 29
    • 0036905546 scopus 로고    scopus 로고
    • Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia
    • Paupe, A. et al. Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia. Ultrasound Obstet. Gynecol. 20, 616-619 (2002).
    • (2002) Ultrasound Obstet. Gynecol. , vol.20 , pp. 616-619
    • Paupe, A.1
  • 30
    • 0024566027 scopus 로고
    • Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations
    • Press, G. A. et al. Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. AJNR Am. J. Neuroradiol. 10, 315-321 (1989).
    • (1989) AJNR Am. J. Neuroradiol. , vol.10 , pp. 315-321
    • Press, G.A.1
  • 31
    • 77951170478 scopus 로고    scopus 로고
    • Mitochondrial C1-tetrahydrofolate synthase (MTHFD1L) supports the flow of mitochondrial onecarbon units into the methyl cycle in embryos
    • Pike, S. T., Rajendra, R., Artzt, K. & Appling, D. R. Mitochondrial C1-tetrahydrofolate synthase (MTHFD1L) supports the flow of mitochondrial onecarbon units into the methyl cycle in embryos. J. Biol. Chem. 285, 4612-4620 (2010).
    • (2010) J. Biol. Chem. , vol.285 , pp. 4612-4620
    • Pike, S.T.1    Rajendra, R.2    Artzt, K.3    Appling, D.R.4
  • 32
    • 84881177291 scopus 로고    scopus 로고
    • Serine, glycine and one-carbon units: Cancer metabolism in full circle
    • Locasale, J. W. Serine, glycine and one-carbon units: cancer metabolism in full circle. Nat. Rev. Cancer 13, 572-583 (2013).
    • (2013) Nat. Rev. Cancer , vol.13 , pp. 572-583
    • Locasale, J.W.1
  • 33
    • 84872183363 scopus 로고    scopus 로고
    • Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice
    • Momb, J. et al. Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice. Proc. Natl Acad. Sci. USA 110, 549-554 (2013).
    • (2013) Proc. Natl Acad. Sci. USA , vol.110 , pp. 549-554
    • Momb, J.1
  • 34
    • 79953186061 scopus 로고    scopus 로고
    • Shmt1 and de novo thymidylate biosynthesis underlie folate-responsive neural tube defects in mice
    • Beaudin, A. E. et al. Shmt1 and de novo thymidylate biosynthesis underlie folate-responsive neural tube defects in mice. Am. J. Clin. Nutr. 93, 789-798 (2011).
    • (2011) Am. J. Clin. Nutr. , vol.93 , pp. 789-798
    • Beaudin, A.E.1
  • 35
    • 33748433110 scopus 로고    scopus 로고
    • Integrity of the methylation cycle is essential for mammalian neural tube closure
    • Dunlevy, L. P. E. et al. Integrity of the methylation cycle is essential for mammalian neural tube closure. Birth Defects Res. (Part A) 76, 544-552 (2006).
    • (2006) Birth Defects Res. (Part A) , vol.76 , pp. 544-552
    • Dunlevy, L.P.E.1
  • 36
    • 0025122421 scopus 로고
    • Comparison of the incidence of 5-azacytidine-induced exencephaly between MT/HokIdr and Slc:ICR mice
    • Matsuda, M. Comparison of the incidence of 5-azacytidine-induced exencephaly between MT/HokIdr and Slc:ICR mice. Teratology 41, 147-154 (1990).
    • (1990) Teratology , vol.41 , pp. 147-154
    • Matsuda, M.1
  • 37
    • 0032568871 scopus 로고    scopus 로고
    • Embryonic folate metabolism and mouse neural tube defects
    • Fleming, A. & Copp, A. J. Embryonic folate metabolism and mouse neural tube defects. Science 280, 2107-2109 (1998).
    • (1998) Science , vol.280 , pp. 2107-2109
    • Fleming, A.1    Copp, A.J.2
  • 38
    • 84883340087 scopus 로고    scopus 로고
    • Nucleotide precursors prevent folic acid-resistant neural tube defects in the mouse
    • Leung, K. Y., De Castro, S. C., Savery, D., Copp, A. J. & Greene, N. D. Nucleotide precursors prevent folic acid-resistant neural tube defects in the mouse. Brain 136, 2836-2841 (2013).
    • (2013) Brain , vol.136 , pp. 2836-2841
    • Leung, K.Y.1    De Castro, S.C.2    Savery, D.3    Copp, A.J.4    Greene, N.D.5
  • 39
    • 0025373350 scopus 로고
    • Prenatal diagnosis of nonketotic hyperglycinemia: Enzymatic analysis of the glycine cleavage system in chorionic villi
    • Hayasaka, K., Tada, K., Fueki, N. & Aikawa, J. Prenatal diagnosis of nonketotic hyperglycinemia: enzymatic analysis of the glycine cleavage system in chorionic villi. J. Pediatr. 116, 444-445 (1990).
    • (1990) J. Pediatr. , vol.116 , pp. 444-445
    • Hayasaka, K.1    Tada, K.2    Fueki, N.3    Aikawa, J.4
  • 40
    • 84904741883 scopus 로고    scopus 로고
    • An isotope-dilution, GC-MS assay for formate and its application to human and animal metabolism
    • Lamarre, S. G. et al. An isotope-dilution, GC-MS assay for formate and its application to human and animal metabolism. Amino Acids 46, 1885-1891 (2014).
    • (2014) Amino Acids , vol.46 , pp. 1885-1891
    • Lamarre, S.G.1
  • 41
    • 84886785031 scopus 로고    scopus 로고
    • Folate metabolite profiling of different cell types and embryos suggests variation in folate one-carbon metabolism, including developmental changes in human embryonic brain
    • Leung, K. Y. et al. Folate metabolite profiling of different cell types and embryos suggests variation in folate one-carbon metabolism, including developmental changes in human embryonic brain. Mol. Cell Biochem. 378, 229-236 (2013).
    • (2013) Mol. Cell Biochem. , vol.378 , pp. 229-236
    • Leung, K.Y.1
  • 42
    • 84875738351 scopus 로고    scopus 로고
    • Metformin retards aging in C. Elegans by altering microbial folate and methionine metabolism
    • Cabreiro, F. et al. Metformin retards aging in C. elegans by altering microbial folate and methionine metabolism. Cell 153, 228-239 (2013).
    • (2013) Cell , vol.153 , pp. 228-239
    • Cabreiro, F.1


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