Mouse models of mitochondrial DNA defects and their relevance for human disease

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

(2008) Hannah R. Elliott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

(2008) A. Gotz et al.   BRAIN

Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice

(2008) X. Zhou et al.   HUMAN MOLECULAR GENETICS

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance

(2008) Hasan O. Akman et al.   HUMAN MOLECULAR GENETICS

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

(2008) Carlo Viscomi et al.   HUMAN MOLECULAR GENETICS

Reverse of Age-Dependent Memory Impairment and Mitochondrial DNA Damage in Microglia by an Overexpression of Human Mitochondrial Transcription Factor A in Mice

(2008) Y. Hayashi et al.   JOURNAL OF NEUROSCIENCE

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

(2008) Lynsey M Cree et al.   NATURE GENETICS

A Mouse Model of Mitochondrial Disease Reveals Germline Selection Against Severe mtDNA Mutations

(2008) Weiwei Fan et al.   SCIENCE

Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA

(2008) James Bruce Stewart et al.   PLOS BIOLOGY