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Journal Abstract Search

121 related items for PubMed ID: 29232014

  • 1. Mutations of the glycine cleavage system genes possibly affect the negative symptoms of schizophrenia through metabolomic profile changes.
    Yoshikawa A, Nishimura F, Inai A, Eriguchi Y, Nishioka M, Takaya A, Tochigi M, Kawamura Y, Umekage T, Kato K, Sasaki T, Ohashi Y, Iwamoto K, Kasai K, Kakiuchi C.
    Psychiatry Clin Neurosci; 2018 Mar; 72(3):168-179. PubMed ID: 29232014
    [Abstract] [Full Text] [Related]

  • 2. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
    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.
    Hum Mutat; 2006 Apr; 27(4):343-52. PubMed ID: 16450403
    [Abstract] [Full Text] [Related]

  • 3. Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.
    Toone JR, Applegarth DA, Coulter-Mackie MB, James ER.
    Hum Mutat; 2001 Apr; 17(1):76. PubMed ID: 11139253
    [Abstract] [Full Text] [Related]

  • 4. Direct correlation between ischemic injury and extracellular glycine concentration in mice with genetically altered activities of the glycine cleavage multienzyme system.
    Oda M, Kure S, Sugawara T, Yamaguchi S, Kojima K, Shinka T, Sato K, Narisawa A, Aoki Y, Matsubara Y, Omae T, Mizoi K, Kinouchi H.
    Stroke; 2007 Jul; 38(7):2157-64. PubMed ID: 17510459
    [Abstract] [Full Text] [Related]

  • 5. Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.
    Alfadhel M, Nashabat M, Qahtani HA, Alfares A, Mutairi FA, Shaalan HA, Douglas GV, Wierenga K, Juusola J, Alrifai MT, Arold ST, Alkuraya F, Ali QA.
    Hum Genet; 2016 Nov; 135(11):1263-1268. PubMed ID: 27481395
    [Abstract] [Full Text] [Related]

  • 6. Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor.
    Kojima-ishii K, Kure S, Ichinohe A, Shinka T, Narisawa A, Komatsuzaki S, Kanno J, Kamada F, Aoki Y, Yokoyama H, Oda M, Sugawara T, Mizoi K, Nakahara D, Matsubara Y.
    Pediatr Res; 2008 Sep; 64(3):228-33. PubMed ID: 18414141
    [Abstract] [Full Text] [Related]

  • 7. Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.
    Bayrak H, Yıldız Y, Olgaç A, Kasapkara ÇS, Küçükcongar A, Zenciroğlu A, Yüksel D, Ceylaner S, Kılıç M.
    Metab Brain Dis; 2021 Aug; 36(6):1213-1222. PubMed ID: 33791923
    [Abstract] [Full Text] [Related]

  • 8. d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.
    Swanson MA, Garcia SM, Spector E, Kronquist K, Creadon-Swindell G, Walter M, Christensen E, Van Hove JLK, Sass JO.
    Mol Genet Metab; 2017 Jun; 121(2):80-82. PubMed ID: 28462797
    [Abstract] [Full Text] [Related]

  • 9. Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.
    Drackley A, Peter M, Rathbun P, Ing A, Prada CE, Yap KL.
    Am J Med Genet A; 2024 Aug; 194(8):e63622. PubMed ID: 38572626
    [Abstract] [Full Text] [Related]

  • 10. Glycine cleavage system in neurogenic regions.
    Ichinohe A, Kure S, Mikawa S, Ueki T, Kojima K, Fujiwara K, Iinuma K, Matsubara Y, Sato K.
    Eur J Neurosci; 2004 May; 19(9):2365-70. PubMed ID: 15128390
    [Abstract] [Full Text] [Related]

  • 11. Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.
    Korman SH, Wexler ID, Gutman A, Rolland MO, Kanno J, Kure S.
    Ann Neurol; 2006 Feb; 59(2):411-5. PubMed ID: 16404748
    [Abstract] [Full Text] [Related]

  • 12. Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.
    Kure S, Kojima K, Ichinohe A, Maeda T, Kalmanchey R, Fekete G, Berg SZ, Filiano J, Aoki Y, Suzuki Y, Izumi T, Matsubara Y.
    Ann Neurol; 2002 Nov; 52(5):643-6. PubMed ID: 12402263
    [Abstract] [Full Text] [Related]

  • 13. [Molecular lesion and pathophysiology of hyperglycinemia: glycine cleavage system, physiology and pathology].
    Tada K.
    Seikagaku; 1993 Apr; 65(4):248-59. PubMed ID: 8315308
    [No Abstract] [Full Text] [Related]

  • 14. [Nonketotic hyperglycinemia].
    Tada K, Kure S.
    Ryoikibetsu Shokogun Shirizu; 1998 Apr; (18 Pt 1):227-30. PubMed ID: 9590032
    [No Abstract] [Full Text] [Related]

  • 15. Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations.
    Kure S, Rolland MO, Leisti J, Mandel H, Sakata Y, Tada K, Matsubara Y, Narisawa K.
    Prenat Diagn; 1999 Aug; 19(8):717-20. PubMed ID: 10451514
    [Abstract] [Full Text] [Related]

  • 16. Rare loss of function mutations in N-methyl-D-aspartate glutamate receptors and their contributions to schizophrenia susceptibility.
    Yu Y, Lin Y, Takasaki Y, Wang C, Kimura H, Xing J, Ishizuka K, Toyama M, Kushima I, Mori D, Arioka Y, Uno Y, Shiino T, Nakamura Y, Okada T, Morikawa M, Ikeda M, Iwata N, Okahisa Y, Takaki M, Sakamoto S, Someya T, Egawa J, Usami M, Kodaira M, Yoshimi A, Oya-Ito T, Aleksic B, Ohno K, Ozaki N.
    Transl Psychiatry; 2018 Jan 10; 8(1):12. PubMed ID: 29317596
    [Abstract] [Full Text] [Related]

  • 17. Genetic association of the glycine cleavage system genes and myelomeningocele.
    Shah RH, Northrup H, Hixson JE, Morrison AC, Au KS.
    Birth Defects Res A Clin Mol Teratol; 2016 Oct 10; 106(10):847-853. PubMed ID: 27620832
    [Abstract] [Full Text] [Related]

  • 18. Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy).
    Applegarth DA, Rolland MO, Toone JR, Coulter-Mackie M, Saura R.
    Prenat Diagn; 2002 Mar 10; 22(3):266-7. PubMed ID: 11920907
    [No Abstract] [Full Text] [Related]

  • 19. Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.
    Azize NA, Ngah WZ, Othman Z, Md Desa N, Chin CB, Md Yunus Z, Mohan A, Hean TS, Syed Zakaria SZ, Lock-Hock N.
    J Hum Genet; 2014 Nov 10; 59(11):593-7. PubMed ID: 25231368
    [Abstract] [Full Text] [Related]

  • 20. Lipoic acid biosynthesis defects.
    Mayr JA, Feichtinger RG, Tort F, Ribes A, Sperl W.
    J Inherit Metab Dis; 2014 Jul 10; 37(4):553-63. PubMed ID: 24777537
    [Abstract] [Full Text] [Related]

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