Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
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منابع مشابه
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
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 Tk2 H126N (Tk2(-/-)) knock-in mouse model from postnatal ...
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ژورنال
عنوان ژورنال: EMBO Molecular Medicine
سال: 2014
ISSN: 1757-4676,1757-4684
DOI: 10.15252/emmm.201404092