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Article

Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency.

Annals of neurology - 1 Oct 2021

Lopez-Gomez Carlos, Sanchez-Quintero Maria J, Lee Eung Jeon, Kleiner Giulio, Tadesse Saba, Xie Jun, Akman Hasan Orhan, Gao Guangping, Hirano Michio

Abstract excerpt

OBJECTIVE: Autosomal recessive human thymidine kinase 2 (TK2) mutations cause TK2 deficiency, which typically manifests as a progressive and fatal mitochondrial myopathy in infants and children. Treatment with pyrimidine deoxynucleosides deoxycytidine and thymidine ameliorates mitochondrial defects and extends the lifespan of Tk2 knock-in mouse (Tk2KI ) and compassionate use deoxynucleoside therapy in TK2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34338329
DOI: 10.1002/ana.26185
PMCID: PMC9307066

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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