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Volumn 14, Issue , 2008, Pages 1995-2001

A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GENOMIC DNA; PROTEIN PEO1; UNCLASSIFIED DRUG;

EID: 56149124589     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (11)

References (22)
  • 1
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    • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
    • Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989; 339:309-11.
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    • Zeviani, M.1    Servidei, S.2    Gellera, C.3    Bertini, E.4    DiMauro, S.5    DiDonato, S.6
  • 2
    • 0034951975 scopus 로고    scopus 로고
    • Diseases caused by nuclear genes affecting mtDNA stability
    • Suomalainen A, Kaukonen J. Diseases caused by nuclear genes affecting mtDNA stability. Am J Med Genet 2001; 106:53-61.
    • (2001) Am J Med Genet , vol.106 , pp. 53-61
    • Suomalainen, A.1    Kaukonen, J.2
  • 5
    • 0034943967 scopus 로고    scopus 로고
    • Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
    • Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001; 28:211-2.
    • (2001) Nat Genet , vol.28 , pp. 211-212
    • Van Goethem, G.1    Dermaut, B.2    Lofgren, A.3    Martin, J.J.4    Van Broeckhoven, C.5
  • 7
    • 0035956482 scopus 로고    scopus 로고
    • ANT1, Twinkle, POLG, and TP: New genes open our eyes to ophthalmoplegia
    • Hirano M, DiMauro S. ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. Neurology 2001; 57:2163-5.
    • (2001) Neurology , vol.57 , pp. 2163-2165
    • Hirano, M.1    DiMauro, S.2
  • 8
    • 0033613865 scopus 로고    scopus 로고
    • Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
    • Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999; 283:689-92.
    • (1999) Science , vol.283 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3
  • 9
    • 0037105957 scopus 로고    scopus 로고
    • Clinical and molecular features of adPEO due to mutations in the Twinkle gene
    • Lewis S, Hutchison W, Thyagarajan D, Dahl HH. Clinical and molecular features of adPEO due to mutations in the Twinkle gene. J Neurot Sci 2002; 201:39-44.
    • (2002) J Neurot Sci , vol.201 , pp. 39-44
    • Lewis, S.1    Hutchison, W.2    Thyagarajan, D.3    Dahl, H.H.4
  • 15
    • 33745754532 scopus 로고    scopus 로고
    • Investigation on mtDNA deletions and twinkle gene mutation (G1423C) in Iranian patients with chronic, progressive external opthalmoplagia
    • Houshmand M, Panahi MS, Hosseini BN, Dorraj GH, Tabassi AR. Investigation on mtDNA deletions and twinkle gene mutation (G1423C) in Iranian patients with chronic, progressive external opthalmoplagia. Neurol India 2006; 54:182-5.
    • (2006) Neurol India , vol.54 , pp. 182-185
    • Houshmand, M.1    Panahi, M.S.2    Hosseini, B.N.3    Dorraj, G.H.4    Tabassi, A.R.5
  • 20
    • 34447249263 scopus 로고    scopus 로고
    • Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle
    • Baloh RH, Salavaggione E, Milbrandt J, Pestronk A. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch Neurol 2007; 64:998-1000.
    • (2007) Arch Neurol , vol.64 , pp. 998-1000
    • Baloh, R.H.1    Salavaggione, E.2    Milbrandt, J.3    Pestronk, A.4
  • 22
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    • Twinkle, the mitochondrial replicative DNA helicase, is widespread in the eukaryotic: Radiation and may also be the mitochondrial DNA primase in most eukaryotes
    • Shutt TE, Gray MW. Twinkle, the mitochondrial replicative DNA helicase, is widespread in the eukaryotic: radiation and may also be the mitochondrial DNA primase in most eukaryotes. J Mol Evol 2006; 62:588-99.
    • (2006) J Mol Evol , vol.62 , pp. 588-599
    • Shutt, T.E.1    Gray, M.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.