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

Antzeko izenburuak

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