Ontology highlight
ABSTRACT:
SUBMITTER: Akman HO
PROVIDER: S-EPMC3115590 | biostudies-literature | 2008 Aug
REPOSITORIES: biostudies-literature
Akman Hasan O HO Dorado Beatriz B López Luis C LC García-Cazorla Angeles A Vilà Maya R MR Tanabe Lauren M LM Dauer William T WT Bonilla Eduardo E Tanji Kurenai K Hirano Michio M
Human molecular genetics 20080508 16
Mitochondrial DNA (mtDNA) depletion syndrome (MDS), an autosomal recessive condition, is characterized by variable organ involvement with decreased mtDNA copy number and activities of respiratory chain enzymes in affected tissues. MtDNA depletion has been associated with mutations in nine autosomal genes, including thymidine kinase (TK2), which encodes a ubiquitous mitochondrial protein. To study the pathogenesis of TK2-deficiency, we generated mice harboring an H126N Tk2 mutation. Homozygous Tk ...[more]