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

The human SIRT3 protein deacetylase is exclusively mitochondrial

(2008) Helen M. Cooper et al.   BIOCHEMICAL JOURNAL

Structure–Function Defects of the TWINKLE Linker Region in Progressive External Ophthalmoplegia

(2008) Jenny A. Korhonen et al.   JOURNAL OF MOLECULAR BIOLOGY

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

(2008) R. Virgilio et al.   JOURNAL OF NEUROLOGY

What causes mitochondrial DNA deletions in human cells?

(2008) Kim J Krishnan et al.   NATURE GENETICS

Prevalence of mitochondrial DNA disease in adults

(2007) Andrew M. Schaefer et al.   ANNALS OF NEUROLOGY

155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21–23 September 2007, Naarden, The Netherlands

(2007) Patrick F. Chinnery et al.   NEUROMUSCULAR DISORDERS