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Volumn 33, Issue 4, 2011, Pages 431-437

Compound mutations of PEO1 and TYMP in a progressive external ophthalmoplegia patient with incomplete mitochondrial neurogastrointestinal encephalomyopathy phenotype

Author keywords

Mitochondrial disease; Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE); PEO; PEO1; TYMP

Indexed keywords


EID: 80052616611     PISSN: 19769571     EISSN: 20929293     Source Type: Journal    
DOI: 10.1007/s13258-011-0089-y     Document Type: Article
Times cited : (3)

References (26)
  • 1
    • 34447249263 scopus 로고    scopus 로고
    • Familial Parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle
    • DOI 10.1001/archneur.64.7.998
    • Baloh RH, Salavaggione E, Milbrandt J, and Pestronk A (2007) Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch. Neurol. 64:998-1000. (Pubitemid 47048000)
    • (2007) Archives of Neurology , vol.64 , Issue.7 , pp. 998-1000
    • Baloh, R.H.1    Salavaggione, E.2    Milbrandt, J.3    Pestronk, A.4
  • 2
    • 84897955456 scopus 로고    scopus 로고
    • Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome
    • "in press"
    • Bakker JA, Schlesser P, Smeets HJ, Francois B, and Bierau J (2010) Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome. J. Inherit. Metab. Dis. "in press".
    • (2010) J. Inherit. Metab. Dis
    • Bakker, J.A.1    Schlesser, P.2    Smeets, H.J.3    Francois, B.4    Bierau, J.5
  • 6
    • 58149163606 scopus 로고    scopus 로고
    • Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling
    • Goffart S, Cooper HM, Tyynismaa H, Wanrooij S, Suomalainen A, and Spelbrink JN (2009) Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. Hum. Mol. Genet. 18:328-340.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 328-340
    • Goffart, S.1    Cooper, H.M.2    Tyynismaa, H.3    Wanrooij, S.4    Suomalainen, A.5    Spelbrink, J.N.6
  • 7
    • 0942297994 scopus 로고    scopus 로고
    • Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A Disease of Two Genomes
    • DOI 10.1097/01.nrl.0000106919.06469.04
    • Hirano M, Nishigaki Y, and Martí R (2004) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. Neurologist 10:8-17. (Pubitemid 38140835)
    • (2004) Neurologist , vol.10 , Issue.1 , pp. 8-17
    • Hirano, M.1    Nishigaki, Y.2    Marti, R.3
  • 9
    • 33644875533 scopus 로고    scopus 로고
    • mtDB: Human mitochondrial genome database, a resource for population genetics and medical sciences
    • Ingman M, and Gyllensten U (2006) mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Nucleic. Acids. Res. 34:D749-D751.
    • (2006) Nucleic. Acids. Res. , vol.34
    • Ingman, M.1    Gyllensten, U.2
  • 17
    • 0033613865 scopus 로고    scopus 로고
    • Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
    • Nishino I, Spinazzola A, and Hirano M (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283:689-692.
    • (1999) Science , vol.283 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3
  • 21
    • 23644436319 scopus 로고    scopus 로고
    • Disorders of nuclear-mitochondrial intergenomic signaling
    • DOI 10.1016/j.gene.2005.03.025, PII S0378111905001769
    • Spinazzola A and Zeviani M (2005) Disorders of nuclear-mitochondrial intergenomic signaling. Gene 354:162-168. (Pubitemid 41116697)
    • (2005) Gene , vol.354 , Issue.1-2 SPEC. ISS. , pp. 162-168
    • Spinazzola, A.1    Zeviani, M.2
  • 22
    • 77954035632 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion syndromes: Many genes, common mechanisms
    • Suomalainen A, and Isohanni P (2010) Mitochondrial DNA depletion syndromes: many genes, common mechanisms. Neuromusc. Disord. 20:429-437.
    • (2010) Neuromusc. Disord. , vol.20 , pp. 429-437
    • Suomalainen, A.1    Isohanni, P.2
  • 26
    • 68249118218 scopus 로고    scopus 로고
    • A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions
    • Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, and Suomalainen A (2009) A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am. J. Hum. Genet. 85:290-295.
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 290-295
    • Tyynismaa, H.1    Ylikallio, E.2    Patel, M.3    Molnar, M.J.4    Haller, R.G.5    Suomalainen, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.