Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

Podobne zapisy

• Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes
  od: Wanrooij, Sjoerd, i wsp.
  Wydane: (2007)
• Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
  od: Tyynismaa, Henna, i wsp.
  Wydane: (2005)
• A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions
  od: Tyynismaa, Henna, i wsp.
  Wydane: (2009)
• Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
  od: Wanrooij, Sjoerd, i wsp.
  Wydane: (2004)
• A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia.
  od: Kaukonen, J, i wsp.
  Wydane: (1999)