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Article

Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration.

Human molecular genetics - 1 May 2010

Bartesaghi Stefano, Betts-Henderson Joanne, Cain Kelvin, Dinsdale David, Zhou Xiaoshan, Karlsson Anna, Salomoni Paolo, Nicotera Pierluigi

Abstract excerpt

Mutations of thymidine kinase 2 (TK2), an essential component of the mitochondrial nucleotide salvage pathway, can give rise to mitochondrial DNA (mtDNA) depletion syndromes (MDS). These clinically heterogeneous disorders are characterized by severe reduction in mtDNA copy number in affected tissues and are associated with progressive myopathy, hepatopathy and/or encephalopathy, depending in part on the...

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Identifiers

PMID: 20123860
DOI: 10.1093/hmg/ddq043
PMCID: PMC2850617

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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