메뉴 건너뛰기




Volumn 53, Issue 8, 2016, Pages 503-510

GATOR1 complex: The common genetic actor in focal epilepsies

Author keywords

[No Author keywords available]

Indexed keywords

DEPDC5 PROTEIN; GAP ACTIVITY TOWARD RAGS 1 PROTEIN; GAP ACTIVITY TOWARD RAGS 2 PROTEIN; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 1; NPRL2 PROTEIN; NRPL3 PROTEIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN; TUBERIN; TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN; UNCLASSIFIED DRUG; MECHANISTIC TARGET OF RAPAMYCIN COMPLEX 1; MULTIPROTEIN COMPLEX; TARGET OF RAPAMYCIN KINASE;

EID: 84970024650     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-103883     Document Type: Article
Times cited : (62)

References (71)
  • 1
    • 84859778293 scopus 로고    scopus 로고
    • mTOR signaling in growth control and disease
    • Laplante M, Sabatini DM. mTOR signaling in growth control and disease. Cell 2012;149:274-93.
    • (2012) Cell , vol.149 , pp. 274-293
    • Laplante, M.1    Sabatini, D.M.2
  • 2
    • 84856078168 scopus 로고    scopus 로고
    • Deconvoluting mTOR Biology
    • Weber JD, Gutmann DH. Deconvoluting mTOR Biology. Cell Cycle 2012;11:236-48.
    • (2012) Cell Cycle , vol.11 , pp. 236-248
    • Weber, J.D.1    Gutmann, D.H.2
  • 3
    • 84879073039 scopus 로고    scopus 로고
    • A critical review of mTOR inhibitors and epilepsy: from basic science to clinical trials
    • Wong M. A critical review of mTOR inhibitors and epilepsy: from basic science to clinical trials. Expert Rev Neurother 2013;13:657-69.
    • (2013) Expert Rev Neurother , vol.13 , pp. 657-669
    • Wong, M.1
  • 4
    • 0037039358 scopus 로고    scopus 로고
    • A rapamycin-sensitive signaling pathway contributes to long-term synaptic plasticity in the hippocampus
    • Tang SJ, Reis G, Kang H, Gingras AC, Sonenberg N, Schuman EM. A rapamycin-sensitive signaling pathway contributes to long-term synaptic plasticity in the hippocampus. Proc Natl Acad Sci USA 2002;99:467-72.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 467-472
    • Tang, S.J.1    Reis, G.2    Kang, H.3    Gingras, A.C.4    Sonenberg, N.5    Schuman, E.M.6
  • 5
    • 38149062059 scopus 로고    scopus 로고
    • Role of mTOR in physiology and pathology of the nervous system
    • Swiech L, Perycz M, Malik A, Jaworski J. Role of mTOR in physiology and pathology of the nervous system. Biochim Biophys Acta 2008;1784:116-32.
    • (2008) Biochim Biophys Acta , vol.1784 , pp. 116-132
    • Swiech, L.1    Perycz, M.2    Malik, A.3    Jaworski, J.4
  • 6
    • 84899144736 scopus 로고    scopus 로고
    • mTOR signaling and its roles in normal and abnormal brain development
    • Takei N, Nawa H. mTOR signaling and its roles in normal and abnormal brain development. Front Mol Neurosci 2014;7:28.
    • (2014) Front Mol Neurosci , vol.7 , pp. 28
    • Takei, N.1    Nawa, H.2
  • 7
    • 84920141663 scopus 로고    scopus 로고
    • Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation
    • Lasarge CL, Danzer SC. Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation. Front Mol Neurosci 2014;7:18.
    • (2014) Front Mol Neurosci , vol.7 , pp. 18
    • Lasarge, C.L.1    Danzer, S.C.2
  • 9
    • 0035976615 scopus 로고    scopus 로고
    • Phosphatidic acid-mediated mitogenic activation of mTOR signaling
    • Fang Y, Vilella-Bach M, Bachmann R, Flanigan A, Chen J. Phosphatidic acid-mediated mitogenic activation of mTOR signaling. Science 2001;294:1942-5.
    • (2001) Science , vol.294 , pp. 1942-1945
    • Fang, Y.1    Vilella-Bach, M.2    Bachmann, R.3    Flanigan, A.4    Chen, J.5
  • 12
    • 84905908848 scopus 로고    scopus 로고
    • The TORC1 inhibitors Nprl2 and Nprl3 mediate an adaptive response to amino-acid starvation in Drosophila
    • Wei Y, Lilly MA. The TORC1 inhibitors Nprl2 and Nprl3 mediate an adaptive response to amino-acid starvation in Drosophila. Cell Death Differ 2014;21:1460-8.
    • (2014) Cell Death Differ , vol.21 , pp. 1460-1468
    • Wei, Y.1    Lilly, M.A.2
  • 13
    • 67651235863 scopus 로고    scopus 로고
    • A genome-wide screen for regulators of TORC1 in response to amino acid starvation reveals a conserved Npr2/3 complex
    • Neklesa TK, Davis RW. A genome-wide screen for regulators of TORC1 in response to amino acid starvation reveals a conserved Npr2/3 complex. PLoS Genet 2009;5: e1000515.
    • (2009) PLoS Genet , vol.5 , pp. e1000515
    • Neklesa, T.K.1    Davis, R.W.2
  • 14
    • 84932183545 scopus 로고    scopus 로고
    • SEA you later alli-GATOR--a dynamic regulator of the TORC1 stress response pathway
    • Dokudovskaya S, Rout MP. SEA you later alli-GATOR--a dynamic regulator of the TORC1 stress response pathway. J Cell Sci 2015;128:2219-28.
    • (2015) J Cell Sci , vol.128 , pp. 2219-2228
    • Dokudovskaya, S.1    Rout, M.P.2
  • 29
    • 0028980028 scopus 로고
    • A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
    • Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11:201-3.
    • (1995) Nat Genet , vol.11 , pp. 201-203
    • Steinlein, O.K.1    Mulley, J.C.2    Propping, P.3    Wallace, R.H.4    Phillips, H.A.5    Sutherland, G.R.6    Scheffer, I.E.7    Berkovic, S.F.8
  • 33
    • 84925386380 scopus 로고    scopus 로고
    • Genetic heterogeneity in familial nocturnal frontal lobe epilepsy
    • Steinlein OK. Genetic heterogeneity in familial nocturnal frontal lobe epilepsy. Prog Brain Res 2014;213:1-15.
    • (2014) Prog Brain Res , vol.213 , pp. 1-15
    • Steinlein, O.K.1
  • 34
    • 84883828127 scopus 로고    scopus 로고
    • Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified
    • Kaur A. Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified. Clin Genet 2013;84:341-2.
    • (2013) Clin Genet , vol.84 , pp. 341-342
    • Kaur, A.1
  • 35
    • 84877576898 scopus 로고    scopus 로고
    • Epilepsy: Discovery of DEPDC5 mutations provides further evidence of a genetic link to inherited focal epilepsies
    • Malpass K. Epilepsy: Discovery of DEPDC5 mutations provides further evidence of a genetic link to inherited focal epilepsies. Nat Rev Neurol 2013; 9:237.
    • (2013) Nat Rev Neurol , vol.9 , pp. 237
    • Malpass, K.1
  • 42
    • 84922018584 scopus 로고    scopus 로고
    • Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy
    • van Kranenburg M, Hoogeveen-Westerveld M, Nellist M. Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy. Hum Mutat 2015;36:200-9.
    • (2015) Hum Mutat , vol.36 , pp. 200-209
    • van Kranenburg, M.1    Hoogeveen-Westerveld, M.2    Nellist, M.3
  • 45
    • 84862684102 scopus 로고    scopus 로고
    • Focal cortical dysplasia-review
    • Kabat J, Król P. Focal cortical dysplasia-review. Pol J Radiol 2012;77:35-43.
    • (2012) Pol J Radiol , vol.77 , pp. 35-43
    • Kabat, J.1    Król, P.2
  • 51
    • 84923250272 scopus 로고    scopus 로고
    • Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy
    • Curatolo P. Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy. Pediatr Neurol 2015;52:281-9.
    • (2015) Pediatr Neurol , vol.52 , pp. 281-289
    • Curatolo, P.1
  • 54
    • 80053418271 scopus 로고    scopus 로고
    • A molecular chaperone mediates a two-protein enzyme complex and glycosylation of serine-rich streptococcal adhesins
    • Wu R, Wu H. A molecular chaperone mediates a two-protein enzyme complex and glycosylation of serine-rich streptococcal adhesins. J Biol Chem 2011;286:34923-31.
    • (2011) J Biol Chem , vol.286 , pp. 34923-34931
    • Wu, R.1    Wu, H.2
  • 56
    • 84876431000 scopus 로고    scopus 로고
    • Discovery of new longin and roadblock domains that form platforms for small GTPases in ragulator and TRAPP-II
    • Levine TP, Daniels RD, Wong LH, Gatta AT, Gerondopoulos A, Barr FA. Discovery of new longin and roadblock domains that form platforms for small GTPases in ragulator and TRAPP-II. Small GTPases 2013;4:62-9.
    • (2013) Small GTPases , vol.4 , pp. 62-69
    • Levine, T.P.1    Daniels, R.D.2    Wong, L.H.3    Gatta, A.T.4    Gerondopoulos, A.5    Barr, F.A.6
  • 58
    • 84874266850 scopus 로고    scopus 로고
    • Discovery of novel DENN proteins: implications for the evolution of eukaryotic intracellular membrane structures and human disease
    • Zhang D, Iyer LM, He F, Aravind L. Discovery of novel DENN proteins: implications for the evolution of eukaryotic intracellular membrane structures and human disease. Front Genet 2012;3:283.
    • (2012) Front Genet , vol.3 , pp. 283
    • Zhang, D.1    Iyer, L.M.2    He, F.3    Aravind, L.4
  • 60
    • 0032486268 scopus 로고    scopus 로고
    • Amino acid sufficiency and mTOR regulate p70 S6 kinase and eIF-4E BP1 through a common effector mechanism
    • Hara K, Yonezawa K, Weng QP, Kozlowski MT, Belham C, Avruch J. Amino acid sufficiency and mTOR regulate p70 S6 kinase and eIF-4E BP1 through a common effector mechanism. J Biol Chem 1998;273:14484-94. Erratum in: J Biol Chem 1998;273:22160.
    • (1998) J Biol Chem , vol.273 , pp. 14484-14494
    • Hara, K.1    Yonezawa, K.2    Weng, Q.P.3    Kozlowski, M.T.4    Belham, C.5    Avruch, J.6
  • 61
  • 62
    • 84908232014 scopus 로고    scopus 로고
    • The neurology of mTOR
    • Lipton JO, Sahin M. The neurology of mTOR. Neuron 2014;84:275-91.
    • (2014) Neuron , vol.84 , pp. 275-291
    • Lipton, J.O.1    Sahin, M.2
  • 65
    • 45849110311 scopus 로고    scopus 로고
    • Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function
    • Meikle L, Pollizzi K, Egnor A, Kramvis I, Lane H, Sahin M, Kwiatkowski DJ. Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. J Neurosci 2008;28:5422-32.
    • (2008) J Neurosci , vol.28 , pp. 5422-5432
    • Meikle, L.1    Pollizzi, K.2    Egnor, A.3    Kramvis, I.4    Lane, H.5    Sahin, M.6    Kwiatkowski, D.J.7
  • 66
    • 42949140259 scopus 로고    scopus 로고
    • Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex.
    • Zeng LH, Xu L, Gutmann DH, Wong M. Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. Ann Neurol 2008;63:444-53
    • (2008) Ann Neurol , vol.63 , pp. 444-453
    • Zeng, L.H.1    Xu, L.2    Gutmann, D.H.3    Wong, M.4
  • 67
    • 77954896543 scopus 로고    scopus 로고
    • Chemistry and pharmacology of rapamycin and its derivatives
    • Abraham RT, Gibbons JJ, Graziani EI. Chemistry and pharmacology of rapamycin and its derivatives. Enzymes 2010;27:329-66.
    • (2010) Enzymes , vol.27 , pp. 329-366
    • Abraham, R.T.1    Gibbons, J.J.2    Graziani, E.I.3
  • 70
    • 84962791864 scopus 로고    scopus 로고
    • mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis
    • Citraro R, Leo A, Constanti A, Russo E, De Sarro G. mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis. Pharmacol Res 2016;107:333-43.
    • (2016) Pharmacol Res , vol.107 , pp. 333-343
    • Citraro, R.1    Leo, A.2    Constanti, A.3    Russo, E.4    De Sarro, G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.