Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

Míreanna Comhchosúla

• Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling
  le: Goffart, Steffi, et al.
  Foilsithe: (2009)
• Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
  le: Wanrooij, Sjoerd, et al.
  Foilsithe: (2004)
• Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes
  le: Wanrooij, Sjoerd, et al.
  Foilsithe: (2007)
• Overexpression of TFAM or Twinkle Increases mtDNA Copy Number and Facilitates Cardioprotection Associated with Limited Mitochondrial Oxidative Stress
  le: Ikeda, Masataka, et al.
  Foilsithe: (2015)
• A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions
  le: Tyynismaa, Henna, et al.
  Foilsithe: (2009)