Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

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adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria

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POLG1 manifestations in childhood

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Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

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The Sugar Ring of the Nucleoside Is Required for Productive Substrate Positioning in the Active Site of Human Deoxycytidine Kinase (dCK): Implications for the Development of dCK-Activated Acyclic Guanine Analogues

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Mitochondrial DNA depletion syndromes – Many genes, common mechanisms

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A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

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Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B

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163rd ENMC International Workshop: Nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12–14 December 2008, Naarden, The Netherlands

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Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

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A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

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

(2008) Steffi Goffart et al.   HUMAN MOLECULAR GENETICS

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

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What causes mitochondrial DNA deletions in human cells?

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