메뉴 건너뛰기




Volumn 76, Issue 2, 2009, Pages 149-151

SYNGAP: Bridging the gap between genetic factors and autosomal non-syndromic mental retardation

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; PROTEIN SYNGAP1; UNCLASSIFIED DRUG;

EID: 70349983076     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01247_3.x     Document Type: Note
Times cited : (3)

References (13)
  • 1
    • 0036948248 scopus 로고    scopus 로고
    • The epidemiology of mental retardation: challenges and opportunities in the new millennium
    • Leonard H, Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002, 8(3):117-134.
    • (2002) Ment Retard Dev Disabil Res Rev , vol.8 , Issue.3 , pp. 117-134
    • Leonard, H.1    Wen, X.2
  • 3
    • 61849104129 scopus 로고    scopus 로고
    • X-linked mental retardation: focus on synaptic function and plasticity.
    • Humeau Y, Gambino F, Chelly J, Vitale N. X-linked mental retardation: focus on synaptic function and plasticity. J Neurochem 2009, 109(1):1-14.
    • (2009) J Neurochem , vol.109 , Issue.1 , pp. 1-14
    • Humeau, Y.1    Gambino, F.2    Chelly, J.3    Vitale, N.4
  • 4
    • 18744371004 scopus 로고    scopus 로고
    • Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation.
    • Molinari F, Rio M, Meskenaite V. Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science 2002, 298(5599):1779-1781.
    • (2002) Science , vol.298 , Issue.5599 , pp. 1779-1781
    • Molinari, F.1    Rio, M.2    Meskenaite, V.3
  • 5
    • 34547784323 scopus 로고    scopus 로고
    • A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
    • Motazacker MM, Rost BR, Hucho T. A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet 2007, 81(4):792-798.
    • (2007) Am J Hum Genet , vol.81 , Issue.4 , pp. 792-798
    • Motazacker, M.M.1    Rost, B.R.2    Hucho, T.3
  • 6
    • 8844245412 scopus 로고    scopus 로고
    • A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation.
    • Higgins JJ, Pucilowska J, Lombardi RQ, Rooney JP. A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. Neurology 2004, 63(10):1927-1931.
    • (2004) Neurology , vol.63 , Issue.10 , pp. 1927-1931
    • Higgins, J.J.1    Pucilowska, J.2    Lombardi, R.Q.3    Rooney, J.4
  • 7
    • 33645128492 scopus 로고    scopus 로고
    • The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.
    • Basel-Vanagaite L, Attia R, Yahav M. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. J Med Genet 2006, 43(3):203-210.
    • (2006) J Med Genet , vol.43 , Issue.3 , pp. 203-210
    • Basel-Vanagaite, L.1    Attia, R.2    Yahav, M.3
  • 8
    • 54249097847 scopus 로고    scopus 로고
    • Silent synapses and the emergence of a postsynaptic mechanism for LTP.
    • Kerchner GA, Nicoll RA. Silent synapses and the emergence of a postsynaptic mechanism for LTP. Nat Rev Neurosci 2008, 9(11):813-825.
    • (2008) Nat Rev Neurosci , vol.9 , Issue.11 , pp. 813-825
    • Kerchner, G.A.1    Nicoll, R.2
  • 9
    • 33846619125 scopus 로고    scopus 로고
    • The role of neuronal complexes in human X-linked brain diseases.
    • Laumonnier F, Cuthbert PC, Grant SG. The role of neuronal complexes in human X-linked brain diseases. Am J Hum Genet 2007, 80(2):205-220.
    • (2007) Am J Hum Genet , vol.80 , Issue.2 , pp. 205-220
    • Laumonnier, F.1    Cuthbert, P.C.2    Grant, S.3
  • 10
    • 33645217296 scopus 로고    scopus 로고
    • SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons.
    • Rumbaugh G, Adams JP, Kim JH, Huganir RL. SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons. Proc Natl Acad Sci U S A 2006, 103(12):4344-4351.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , Issue.12 , pp. 4344-4351
    • Rumbaugh, G.1    Adams, J.P.2    Kim, J.H.3    Huganir, R.4
  • 11
    • 0035877790 scopus 로고    scopus 로고
    • Characterization of a novel synGAP isoform, synGAP-beta.
    • Li W, Okano A, Tian QB. Characterization of a novel synGAP isoform, synGAP-beta. J Biol Chem 2001, 276(24):21417-21424.
    • (2001) J Biol Chem , vol.276 , Issue.24 , pp. 21417-21424
    • Li, W.1    Okano, A.2    Tian, Q.B.3
  • 12
    • 0032055396 scopus 로고    scopus 로고
    • SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family.
    • Kim JH, Liao D, Lau LF, Huganir RL. SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family. Neuron 1998, 20(4):683-691.
    • (1998) Neuron , vol.20 , Issue.4 , pp. 683-691
    • Kim, J.H.1    Liao, D.2    Lau, L.F.3    Huganir, R.4
  • 13
    • 4143133173 scopus 로고    scopus 로고
    • SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation.
    • Krapivinsky G, Medina I, Krapivinsky L, Gapon S, Clapham DE. SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation. Neuron 2004, 43(4):563-574.
    • (2004) Neuron , vol.43 , Issue.4 , pp. 563-574
    • Krapivinsky, G.1    Medina, I.2    Krapivinsky, L.3    Gapon, S.4    Clapham, D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.