Related references
Note: Only part of the references are listed.Maintenance and Expression of Mammalian Mitochondrial DNA
Claes M. Gustafsson et al.
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 85 (2016)
Progressive External Ophthalmoplegia
Collin McClelland et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2016)
Human mitochondrial DNA replication machinery and disease
Matthew J. Young et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2016)
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid
Christoph Freyer et al.
JOURNAL OF MEDICAL GENETICS (2015)
Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered flies
Ana Bratic et al.
NATURE COMMUNICATIONS (2015)
The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication
Bertil Macao et al.
NATURE COMMUNICATIONS (2015)
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism
Henrik Stranneheim et al.
BMC GENOMICS (2014)
Yeast Cells Expressing the Human Mitochondrial DNA Polymerase Reveal Correlations between Polymerase Fidelity and Human Disease Progression
Yufeng Qian et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features
Johanna Uusimaa et al.
EPILEPSIA (2013)
The Impact of Introducing a Histidine into an Apolar Cavity Site on Docking and Ligand Recognition
Matthew Merski et al.
JOURNAL OF MEDICINAL CHEMISTRY (2013)
Engineering a model protein cavity to catalyze the Kemp elimination
Matthew Merski et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Effect of the Y955C Mutation on Mitochondrial DNA Polymerase Nucleotide Incorporation Efficiency and Fidelity
Patricia A. Estep et al.
BIOCHEMISTRY (2011)
Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia
Neli Atanassova et al.
HUMAN MOLECULAR GENETICS (2011)
A REVIEW COMPARING DEOXYRIBONUCLEOSIDE TRIPHOSPHATE (dNTP) CONCENTRATIONS IN THE MITOCHONDRIAL AND CYTOPLASMIC COMPARTMENTS OF NORMAL AND TRANSFORMED CELLS
Vishal V. Gandhi et al.
NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS (2011)
A Novel POLG Gene Mutation in 4 Children With Alpers-like Hepatocerebral Syndromes
Bulent Kurt et al.
ARCHIVES OF NEUROLOGY (2010)
Structural Insight into Processive Human Mitochondrial DNA Synthesis and Disease-Related Polymerase Mutations
Young-Sam Lee et al.
CELL (2009)
Directed, efficient, and versatile modifications of the Drosophila genome by genomic engineering
Juan Huang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
The DNA polymerase γ Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine
Maria A. Graziewicz et al.
HUMAN MOLECULAR GENETICS (2007)
Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase γ
William Lewis et al.
LABORATORY INVESTIGATION (2007)
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma
Alistair T. Pagnamenta et al.
HUMAN REPRODUCTION (2006)
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans
Enrico Baruffini et al.
HUMAN MOLECULAR GENETICS (2006)
Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase γ associated with progressive external ophthalmoplegia
GR Stuart et al.
HUMAN MOLECULAR GENETICS (2006)
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
H Tyynismaa et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome
PT Luoma et al.
HUMAN MOLECULAR GENETICS (2005)
DNA precursor asymmetries in mammalian tissue mitochondria and possible contribution to mutagenesis through reduced replication fidelity
SW Song et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia
MA Graziewicz et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2004)
Reconstitution of a minimal mtDNA replisome in vitro
JA Korhonen et al.
EMBO JOURNAL (2004)
Structural determinants in human DNA polymerase γ account for mitochondrial toxicity from nucleoside analogs
SE Lim et al.
JOURNAL OF MOLECULAR BIOLOGY (2003)
Active site mutation in DNA polymerase γ associated with progressive external ophthalmoplegia causes error-prone DNA synthesis
MV Ponamarev et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
The fidelity of human DNA polymerase γ with and without exonucleolytic proofreading and the p55 accessory subunit
MJ Longley et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations
RW Taylor et al.
NUCLEIC ACIDS RESEARCH (2001)
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
G Van Goethem et al.
NATURE GENETICS (2001)
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria
JN Spelbrink et al.
NATURE GENETICS (2001)
Role of adenine nucleotide translocator 1 in mtDNA maintenance
J Kaukonen et al.
SCIENCE (2000)