Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA

Maintenance and Expression of Mammalian Mitochondrial DNA

(2016) Claes M. Gustafsson et al.   Annual Review of Biochemistry

Processing ribonucleotides incorporated during eukaryotic DNA replication

(2016) Jessica S. Williams et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

MGME1 processes flaps into ligatable nicks in concert with DNA polymerase γ during mtDNA replication

(2016) Jay P. Uhler et al.   NUCLEIC ACIDS RESEARCH

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

(2016) Ilaria Dalla Rosa et al.   PLoS Genetics

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

(2015) Aurelio Reyes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

Primer removal during mammalian mitochondrial DNA replication

(2015) Jay P. Uhler et al.   DNA REPAIR

Tracking replication enzymology in vivo by genome-wide mapping of ribonucleotide incorporation

(2015) Anders R Clausen et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication

(2015) Bertil Macao et al.   Nature Communications

Tracking replication enzymology in vivo by genome-wide mapping of ribonucleotide incorporation

(2015) Anders R Clausen et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Thymidine Kinase 2 Enzyme Kinetics Elucidate the Mechanism of Thymidine-Induced Mitochondrial DNA Depletion

(2014) Ren Sun et al.   BIOCHEMISTRY

Mitochondrial genome maintenance in health and disease

(2014) William C. Copeland et al.   DNA REPAIR

In D-loop: 40years of mitochondrial 7S DNA

(2014) Thomas J. Nicholls et al.   EXPERIMENTAL GERONTOLOGY

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease

(2014) Thomas J. Nicholls et al.   HUMAN MOLECULAR GENETICS

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

In Vivo Occupancy of Mitochondrial Single-Stranded DNA Binding Protein Supports the Strand Displacement Mode of DNA Replication

(2014) Javier Miralles Fusté et al.   PLoS Genetics

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

(2013) Johanna Uusimaa et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure

(2013) Abdulrahman Al-Hussaini et al.   JOURNAL OF PEDIATRICS

Topoisomerase 1-Mediated Removal of Ribonucleotides from Nascent Leading-Strand DNA

(2013) Jessica S. Williams et al.   MOLECULAR CELL

Ribonucleotides Are Signals for Mismatch Repair of Leading-Strand Replication Errors

(2013) Scott A. Lujan et al.   MOLECULAR CELL

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

(2013) Cornelia Kornblum et al.   NATURE GENETICS

Mitochondrial DNA replication proceeds via a ‘bootlace’ mechanism involving the incorporation of processed transcripts

(2013) Aurelio Reyes et al.   NUCLEIC ACIDS RESEARCH

Identification of a novel human mitochondrial endo-/exonuclease Ddk1/c20orf72 necessary for maintenance of proper 7S DNA levels

(2013) Roman J. Szczesny et al.   NUCLEIC ACIDS RESEARCH

Okazaki Fragment Metabolism

(2013) L. Balakrishnan et al.   Cold Spring Harbor Perspectives in Biology

Enzymatic Removal of Ribonucleotides from DNA Is Essential for Mammalian Genome Integrity and Development

(2012) Martin A.M. Reijns et al.   CELL

Proofreading of ribonucleotides inserted into DNA by yeast DNA polymerase ɛ

(2012) Jessica S. Williams et al.   DNA REPAIR

Ribonucleotide incorporation, proofreading and bypass by human DNA polymerase δ

(2012) Anders R. Clausen et al.   DNA REPAIR

RNase H2-Initiated Ribonucleotide Excision Repair

(2012) Justin L. Sparks et al.   MOLECULAR CELL

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

(2012) Emma L. Blakely et al.   NEUROMUSCULAR DISORDERS

Ribonucleotide Discrimination and Reverse Transcription by the Human Mitochondrial DNA Polymerase

(2011) Rajesh Kasiviswanathan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Review Comparing Deoxyribonucleoside Triphosphate (dNTP) Concentrations in the Mitochondrial and Cytoplasmic Compartments of Normal and Transformed Cells

(2011) Vishal V. Gandhi et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

Mutagenic Processing of Ribonucleotides in DNA by Yeast Topoisomerase I

(2011) N. Kim et al.   SCIENCE

Okazaki fragment maturation: nucleases take centre stage

(2011) L. Zheng et al.   Journal of Molecular Cell Biology

Somatic Mitochondrial DNA Mutations in Mammalian Aging

(2010) Nils-Göran Larsson   Annual Review of Biochemistry

Mammalian Mitochondrial DNA Replication Intermediates Are Essentially Duplex but Contain Extensive Tracts of RNA/DNA Hybrid

(2010) Jaakko L.O. Pohjoismäki et al.   JOURNAL OF MOLECULAR BIOLOGY

Mitochondrial RNA Polymerase Is Needed for Activation of the Origin of Light-Strand DNA Replication

(2010) Javier Miralles Fusté et al.   MOLECULAR CELL

Abundant ribonucleotide incorporation into DNA by yeast replicative polymerases

(2010) S. A. Nick McElhinny et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Quantitation of cellular deoxynucleoside triphosphates

(2009) Paola Ferraro et al.   NUCLEIC ACIDS RESEARCH

Polymerase Dynamics at the Eukaryotic DNA Replication Fork

(2008) Peter M. J. Burgers   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency

(2008) Ann Saada   MOLECULAR GENETICS AND METABOLISM

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

(2008) Emma Blakely et al.   NEUROMUSCULAR DISORDERS