Article

Synergistic effect of deoxynucleosides and AAV gene therapy for thymidine kinase 2 deficiency

2020-10-08

Abstract excerpt

Autosomal recessive thymidine kinase 2 ( TK2 ) mutations causes TK2 deficiency, which typically manifests as a progressive and fatal mitochondrial myopathy in infants and children. Treatment with deoxycytidine and thymidine ameliorates mitochondrial defects and extends lifespan of Tk2 knock-in mouse (TK2 −/− ); however, efficacy is limited by age- and tissue-dependent expression of the cytosolic enzymes Tk1 and...

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Literature Corpus work: 32b57e8f-2d04-58c1-9787-728bb5dacfd9
DOI: 10.1101/2020.10.08.330969

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