Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
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London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Autosomal recessive mutations in the thymidine kinase 2 gene (
TK2
) cause mitochondrial DNA depletion, multiple deletions, or both due to loss of TK2 enzyme activity and ensuing unbalanced deoxynucleotide triphosphate (dNTP) pools. To bypass Tk2 deficiency, we administered deoxycytidine and deoxythymidine monophosphates (dCMP+dTMP) to the
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Full title
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
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TN_cdi_doaj_primary_oai_doaj_org_article_c1edaf59ac554056b5d66fcc031a0582
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c1edaf59ac554056b5d66fcc031a0582
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ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.15252/emmm.201404092
