mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae

Structural Insight into Processive Human Mitochondrial DNA Synthesis and Disease-Related Polymerase Mutations

(2009) Young-Sam Lee et al.   CELL

Random Point Mutations with Major Effects on Protein-Coding Genes Are the Driving Force behind Premature Aging in mtDNA Mutator Mice

(2009) Daniel Edgar et al.   Cell Metabolism

What can mitochondrial heterogeneity tell us about mitochondrial dynamics and autophagy?

(2009) Jakob D. Wikstrom et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Disease Mutations in the Human Mitochondrial DNA Polymerase Thumb Subdomain Impart Severe Defects in Mitochondrial DNA Replication

(2009) Rajesh Kasiviswanathan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The unfolding clinical spectrum of POLG mutations

(2009) M J Blok et al.   JOURNAL OF MEDICAL GENETICS

Genome-wide deletion mutant analysis reveals genes required for respiratory growth, mitochondrial genome maintenance and mitochondrial protein synthesis in Saccharomyces cerevisiae

(2009) Sandra Merz et al.   GENOME BIOLOGY

Juvenile Alpers Disease

(2008) Esko Wiltshire et al.   ARCHIVES OF NEUROLOGY

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

(2008) Neil Ashley et al.   HUMAN MOLECULAR GENETICS

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

(2008) Lee-Jun C. Wong et al.   HUMAN MUTATION

DNA deletions and clonal mutations drive premature aging in mitochondrial mutator mice

(2008) Marc Vermulst et al.   NATURE GENETICS

Inherited Mitochondrial Diseases of DNA Replication

(2007) William C. Copeland   Annual Review of Medicine