메뉴 건너뛰기




Volumn 30, Issue 41, 2010, Pages 13895-13905

Slow degradation and aggregation in vitro of mutant GABAA receptor γ2(Q351X) subunits associated with epilepsy

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR BETA1; 4 AMINOBUTYRIC ACID A RECEPTOR BETA2; 4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; CYSTEINE; MONOMER; PROTEASOME; UBIQUITIN; 4 AMINOBUTYRIC ACID A RECEPTOR; PROTEIN SUBUNIT;

EID: 77958038097     PISSN: 02706474     EISSN: 15292401     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.2320-10.2010     Document Type: Article
Times cited : (39)

References (31)
  • 3
    • 0038689039 scopus 로고    scopus 로고
    • Protein aggregation and the ubiquitin proteasome pathway: Gaining the UPPer hand on neurodegeneration
    • Berke SJ, Paulson HL (2003) Protein aggregation and the ubiquitin proteasome pathway: gaining the UPPer hand on neurodegeneration. Curr Opin Genet Dev 13:253-261.
    • (2003) Curr Opin Genet Dev , vol.13 , pp. 253-261
    • Berke, S.J.1    Paulson, H.L.2
  • 5
    • 20144372686 scopus 로고    scopus 로고
    • Normal magnetic resonance imaging and medial temporal lobe epilepsy: The clinical syndrome of paradoxical temporal lobe epilepsy
    • Cohen-Gadol AA, Bradley CC, Williamson A, Kim JH, Westerveld M, Duckrow RB, Spencer DD (2005) Normal magnetic resonance imaging and medial temporal lobe epilepsy: the clinical syndrome of paradoxical temporal lobe epilepsy. J Neurosurg 102:902-909.
    • (2005) J Neurosurg , vol.102 , pp. 902-909
    • Cohen-Gadol, A.A.1    Bradley, C.C.2    Williamson, A.3    Kim, J.H.4    Westerveld, M.5    Duckrow, R.B.6    Spencer, D.D.7
  • 7
    • 66449136918 scopus 로고    scopus 로고
    • Disulfide bond formation significantly accelerates the assembly of Ure2p fibrils because of the proximity of a potential amyloid stretch
    • Fei L, Perrett S (2009) Disulfide bond formation significantly accelerates the assembly of Ure2p fibrils because of the proximity of a potential amyloid stretch. J Biol Chem 284:11134-11141.
    • (2009) J Biol Chem , vol.284 , pp. 11134-11141
    • Fei, L.1    Perrett, S.2
  • 8
    • 0031932169 scopus 로고    scopus 로고
    • Protein aggregation: Folding aggregates, inclusion bodies and amyloid
    • Fink AL (1998) Protein aggregation: folding aggregates, inclusion bodies and amyloid. Fold Des 3:R9-R23.
    • (1998) Fold des , vol.3
    • Fink, A.L.1
  • 11
    • 33750599989 scopus 로고    scopus 로고
    • A new paradigm of channelopathy in epilepsy syndromes: Intracellular trafficking abnormality of channel molecules
    • Hirose S (2006) A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules. Epilepsy Res 70 [Suppl 1]:S206-S217.
    • (2006) Epilepsy Res , vol.70 , Issue.SUPPL. 1
    • Hirose, S.1
  • 13
    • 5444253356 scopus 로고    scopus 로고
    • A receptor γ2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of α1β2γ2S receptors in the endoplasmic reticulum
    • Erratum (2004) 24:1p following 9126; Kang Jingqiong (corrected to Kang, Jing-Qiong)
    • A receptor γ2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of α1β2γ2S receptors in the endoplasmic reticulum. J Neurosci [Erratum (2004) 24:1p following 9126; Kang Jingqiong (corrected to Kang, Jing-Qiong)] 24:8672-8677.
    • (2004) J Neurosci , vol.24 , pp. 8672-8677
    • Kang, J.Q.1    Macdonald, R.L.2
  • 14
    • 70049111246 scopus 로고    scopus 로고
    • A receptor mutations associated with genetic epilepsies
    • A receptor mutations associated with genetic epilepsies. Trends Mol Med 15:430-438.
    • (2009) Trends Mol Med , vol.15 , pp. 430-438
    • Kang, J.Q.1    Macdonald, R.L.2
  • 15
    • 63849269694 scopus 로고    scopus 로고
    • A receptor GABRA1 PTC mutation, 975delC, S326fs328X
    • A receptor GABRA1 PTC mutation, 975delC, S326fs328X. J Neurosci 29:2833-2844.
    • (2009) J Neurosci , vol.29 , pp. 2833-2844
    • Kang, J.Q.1    Shen, W.2    Macdonald, R.L.3
  • 16
    • 63849099710 scopus 로고    scopus 로고
    • The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression
    • Kang JQ, Shen W, Macdonald RL (2009b) The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression. J Neurosci 29:2845-2856.
    • (2009) J Neurosci , vol.29 , pp. 2845-2856
    • Kang, J.Q.1    Shen, W.2    Macdonald, R.L.3
  • 17
    • 0034703874 scopus 로고    scopus 로고
    • Intranuclear huntingtin increases the expression of caspase-1 and induces apoptosis
    • Li SH, Lam S, Cheng AL, Li XJ (2000) Intranuclear huntingtin increases the expression of caspase-1 and induces apoptosis. Hum Mol Genet 9:2859-2867.
    • (2000) Hum Mol Genet , vol.9 , pp. 2859-2867
    • Li, S.H.1    Lam, S.2    Cheng, A.L.3    Li, X.J.4
  • 18
    • 35548950947 scopus 로고    scopus 로고
    • The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells
    • Linde L, Boelz S, Neu-Yilik G, Kulozik AE, Kerem B (2007) The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells. Eur J Hum Genet 15:1156-1162.
    • (2007) Eur J Hum Genet , vol.15 , pp. 1156-1162
    • Linde, L.1    Boelz, S.2    Neu-Yilik, G.3    Kulozik, A.E.4    Kerem, B.5
  • 20
    • 0024972502 scopus 로고
    • Substantial increase of protein stability by multiple disulphide bonds
    • Matsumura M, Signor G, Matthews BW (1989) Substantial increase of protein stability by multiple disulphide bonds. Nature 342:291-293.
    • (1989) Nature , vol.342 , pp. 291-293
    • Matsumura, M.1    Signor, G.2    Matthews, B.W.3
  • 22
  • 23
    • 12544250742 scopus 로고    scopus 로고
    • Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa
    • Rajan RS, Kopito RR (2005b) Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa. J Biol Chem 280:1284-1291.
    • (2005) J Biol Chem , vol.280 , pp. 1284-1291
    • Rajan, R.S.1    Kopito, R.R.2
  • 24
    • 0030943313 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizure plus. A genetic disorder with heterogeneous clinical phenotypes
    • Scheffer IE, Berkovic SF (1997) Generalized epilepsy with febrile seizure plus. a genetic disorder with heterogeneous clinical phenotypes. Brain 120:479-490.
    • (1997) Brain , vol.120 , pp. 479-490
    • Scheffer, I.E.1    Berkovic, S.F.2
  • 25
    • 0034783413 scopus 로고    scopus 로고
    • Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome)
    • Scheffer IE, Wallace R, Mulley JC, Berkovic SF (2001) Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). Brain Dev 23:732-735.
    • (2001) Brain Dev , vol.23 , pp. 732-735
    • Scheffer, I.E.1    Wallace, R.2    Mulley, J.C.3    Berkovic, S.F.4
  • 26
  • 28
    • 0033134869 scopus 로고    scopus 로고
    • Aggregates in neurodegenerative disease: Crowds and power?
    • Tran PB, Miller RJ (1999) Aggregates in neurodegenerative disease: crowds and power? Trends Neurosci 22:194-197.
    • (1999) Trends Neurosci , vol.22 , pp. 194-197
    • Tran, P.B.1    Miller, R.J.2
  • 30
    • 0033791230 scopus 로고    scopus 로고
    • Protein aggregation and pathogenesis of Huntington's disease: Mechanisms and correlations
    • Wanker EE (2000) Protein aggregation and pathogenesis of Huntington's disease: mechanisms and correlations. Biol Chem 381:937-942.
    • (2000) Biol Chem , vol.381 , pp. 937-942
    • Wanker, E.E.1
  • 31
    • 34447649351 scopus 로고    scopus 로고
    • Neuronal apoptosis in the resected sclerotic hippocampus in patients with mesial temporal lobe epilepsy
    • DOI 10.1016/j.jocn.2006.08.002, PII S0967586806005844
    • Xu S, Pang Q, Liu Y, Shang W, Zhai G, Ge M (2007) Neuronal apoptosis in the resected sclerotic hippocampus in patients with mesial temporal lobe epilepsy. J Clin Neurosci 14:835-840. (Pubitemid 47095337)
    • (2007) Journal of Clinical Neuroscience , vol.14 , Issue.9 , pp. 835-840
    • Xu, S.1    Pang, Q.2    Liu, Y.3    Shang, W.4    Zhai, G.5    Ge, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.