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Volumn 296, Issue 1-2, 2010, Pages 101-103

MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions

Author keywords

MELAS syndrome; mtDNA; Multiple deletions; tRNALeu

Indexed keywords

MITOCHONDRIAL DNA; PHENYTOIN; TRANSFER RNA;

EID: 77956876027     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.06.029     Document Type: Article
Times cited : (5)

References (22)
  • 1
    • 65549156114 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathies and related syndromes: Brief review
    • E. Bertini, and A. D'Amico Mitochondrial encephalomyopathies and related syndromes: brief review Endocr Dev 14 2009 38 52
    • (2009) Endocr Dev , vol.14 , pp. 38-52
    • Bertini, E.1    D'Amico, A.2
  • 2
    • 33744823262 scopus 로고    scopus 로고
    • The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: A review of treatment options
    • F. Scaglia, and L. Northrop The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options CNS Drugs 20 2006 443 464
    • (2006) CNS Drugs , vol.20 , pp. 443-464
    • Scaglia, F.1    Northrop, L.2
  • 3
    • 34250833548 scopus 로고    scopus 로고
    • Genetic, pathogenetic and phenotypic implications of the mitochondrial A3243G tRNALeu (UUR) mutation
    • J. Finister Genetic, pathogenetic and phenotypic implications of the mitochondrial A3243G tRNALeu (UUR) mutation Acta Neurol Scand 116 2007 1 14
    • (2007) Acta Neurol Scand , vol.116 , pp. 1-14
    • Finister, J.1
  • 4
    • 16344385624 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathy with lactic acidosis and stroke (MELAS)
    • J. Matsumoto, J.L. Saver, K.C. Brennan, and J.M. Ringman Mitochondrial encephalomyopathy with lactic acidosis and stroke (MELAS) Rev Neurol Dis 2 2005 30 34
    • (2005) Rev Neurol Dis , vol.2 , pp. 30-34
    • Matsumoto, J.1    Saver, J.L.2    Brennan, K.C.3    Ringman, J.M.4
  • 5
    • 68949114323 scopus 로고    scopus 로고
    • Manifestations of the mitochondrial A3243G mutation
    • J. Finsterer Manifestations of the mitochondrial A3243G mutation Int J Cardiol 137 2009 60 62
    • (2009) Int J Cardiol , vol.137 , pp. 60-62
    • Finsterer, J.1
  • 7
    • 50049107062 scopus 로고    scopus 로고
    • Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A > G tRNA(Leu) mutation
    • R.G. van Eijsden, L.M. Eijssen, P.J. Lindsey, C.M. van den Burg, L.E. de Wit, and M.E. Rubio-Gozalbo, et al. Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A > G tRNA(Leu) mutation J Med Genet 45 2008 525 534
    • (2008) J Med Genet , vol.45 , pp. 525-534
    • Van Eijsden, R.G.1    Eijssen, L.M.2    Lindsey, P.J.3    Van Den Burg, C.M.4    De Wit, L.E.5    Rubio-Gozalbo, M.E.6
  • 8
    • 0036838879 scopus 로고    scopus 로고
    • Wobble modification defect suppresses translational activity of tRNAs with MERRF and MELAS mutations
    • DOI 10.1016/S1567-7249(02)00033-8, PII S1567724902000338
    • T. Yasukawa, T. Suzuki, S. Ohta, and K. Watanabe Wobble modification defect suppresses translational activity of tRNAs with MERRF and MELAS mutations Mitochondrion 2 2002 129 141 (Pubitemid 35214604)
    • (2002) Mitochondrion , vol.2 , Issue.1-2 , pp. 129-141
    • Yasukawa, T.1    Suzuki, T.2    Ohta, S.3    Watanabe, K.4
  • 10
    • 18844430007 scopus 로고    scopus 로고
    • Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease
    • Y. Kirino, Y. Goto, Y. Campos, J. Arenas, and T. Suzuki Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease Proc Natl Acad Sci USA 102 2005 7127 7132
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 7127-7132
    • Kirino, Y.1    Goto, Y.2    Campos, Y.3    Arenas, J.4    Suzuki, T.5
  • 11
    • 9644254602 scopus 로고    scopus 로고
    • Leu(UUR) aminoacylation by some MELAS-associated mutations
    • DOI 10.1016/j.febslet.2004.11.004, PII S0014579304013547
    • R. Hao, Y.N. Yao, Y.G. Zheng, M.G. Xu, and E.D. Wang Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS-associated mutations FEBS Lett 578 2004 135 139 (Pubitemid 39576114)
    • (2004) FEBS Letters , vol.578 , Issue.1-2 , pp. 135-139
    • Hao, R.1    Yao, Y.-N.2    Zheng, Y.-G.3    Xu, M.-G.4    Wang, E.-D.5
  • 12
    • 42949170382 scopus 로고    scopus 로고
    • Muscle 3243A → G mutation load and capacity of the mitochondrial energy-generating system
    • A.J. Janssen, M. Schuelke, J.A. Smeitink, F.J. Trijbels, R.C. Sengers, and B. Lucke, et al. Muscle 3243A → G mutation load and capacity of the mitochondrial energy-generating system Ann Neurol 63 2008 473 481
    • (2008) Ann Neurol , vol.63 , pp. 473-481
    • Janssen, A.J.1    Schuelke, M.2    Smeitink, J.A.3    Trijbels, F.J.4    Sengers, R.C.5    Lucke, B.6
  • 13
    • 33645533854 scopus 로고    scopus 로고
    • Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies
    • C.S. Liu, W.L. Cheng, C.F. Lee, Y.S. Ma, C.Y. Lin, and C.C. Huang, et al. Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies Acta Neurol Scand 113 2006 334 341
    • (2006) Acta Neurol Scand , vol.113 , pp. 334-341
    • Liu, C.S.1    Cheng, W.L.2    Lee, C.F.3    Ma, Y.S.4    Lin, C.Y.5    Huang, C.C.6
  • 14
    • 33846428420 scopus 로고    scopus 로고
    • Depletion of mitochondrial DNA in leucocytes harbouring the 3243A → G mtDNA mutation
    • A. Pyle, R.W. Taylor, S.E. Durham, M. Deschauer, A.M. Schaefer, and D.C. Samuels, et al. Depletion of mitochondrial DNA in leucocytes harbouring the 3243A → G mtDNA mutation J Med Genet 44 2007 69 74
    • (2007) J Med Genet , vol.44 , pp. 69-74
    • Pyle, A.1    Taylor, R.W.2    Durham, S.E.3    Deschauer, M.4    Schaefer, A.M.5    Samuels, D.C.6
  • 17
    • 0242584408 scopus 로고    scopus 로고
    • Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome
    • S. Bosbach, C. Kornblum, R. Schröder, and M. Wagner Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome Brain 126 Pt 5 2003 1231 1240
    • (2003) Brain , vol.126 , Issue.PART 5 , pp. 1231-1240
    • Bosbach, S.1    Kornblum, C.2    Schröder, R.3    Wagner, M.4
  • 18
    • 48349112611 scopus 로고    scopus 로고
    • Cognitive decline as a manifestation of mitochondrial disorders (mitochondrial dementia)
    • J. Finsterer Cognitive decline as a manifestation of mitochondrial disorders (mitochondrial dementia) J Neurol Sci 272 1-2 2008 20 33
    • (2008) J Neurol Sci , vol.272 , Issue.1-2 , pp. 20-33
    • Finsterer, J.1
  • 21
    • 44649148350 scopus 로고    scopus 로고
    • MELAS mitochondrial DNA mutation A3243G reduces glutamate transport in cybrids cell lines
    • J.C. DiFrancesco, J.M. Cooper, A. Lam, P.E. Hart, L. Tremolizzo, and C. Ferrarese, et al. MELAS mitochondrial DNA mutation A3243G reduces glutamate transport in cybrids cell lines Exp Neurol 212 2008 152 156
    • (2008) Exp Neurol , vol.212 , pp. 152-156
    • Difrancesco, J.C.1    Cooper, J.M.2    Lam, A.3    Hart, P.E.4    Tremolizzo, L.5    Ferrarese, C.6
  • 22
    • 37349031029 scopus 로고    scopus 로고
    • Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: Report of a family
    • M. Mancuso, G. Ricci, A. Choub, M. Filosto, S. DiMauro, and D. Davidzon, et al. Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family J Affect Disord 106 2008 173 177
    • (2008) J Affect Disord , vol.106 , pp. 173-177
    • Mancuso, M.1    Ricci, G.2    Choub, A.3    Filosto, M.4    Dimauro, S.5    Davidzon, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.