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

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

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

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

(2013) Penelope E. Bonnen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

(2013) Xiaowu Gai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability

(2013) Dario Ronchi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

(2013) D. Milenkovic et al.   HUMAN MOLECULAR GENETICS

Mechanism of Homologous Recombination and Implications for Aging-Related Deletions in Mitochondrial DNA

(2013) X. J. Chen   MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS

Avoiding chromosome pathology when replication forks collide

(2013) Christian J. Rudolph et al.   NATURE

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

A new strategy for gene targeting and functional proteomics using the DT40 cell line

(2013) Kinga P. Orlowska 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

In vivo mutagenesis reveals that OriL is essential for mitochondrial DNA replication

(2012) Sjoerd Wanrooij et al.   EMBO REPORTS

Mitochondrial DNA deletions are associated with non-B DNA conformations

(2012) Joana Damas et al.   NUCLEIC ACIDS RESEARCH

Defects in mitochondrial DNA replication and human disease

(2011) William C. Copeland   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

TEFM (c17orf42) is necessary for transcription of human mtDNA

(2011) Michal Minczuk et al.   NUCLEIC ACIDS RESEARCH

The mtDNA Mutation Spectrum of the Progeroid Polg Mutator Mouse Includes Abundant Control Region Multimers

(2010) Siôn L. Williams et al.   Cell Metabolism

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

(2010) Javier Miralles Fusté et al.   MOLECULAR CELL

Repeats, longevity and the sources of mtDNA deletions: evidence from ‘deletional spectra’

(2010) Xinhong Guo et al.   TRENDS IN GENETICS

Mice expressing an error-prone DNA polymerase in mitochondria display elevated replication pausing and chromosomal breakage at fragile sites of mitochondrial DNA

(2009) Laura J. Bailey et al.   NUCLEIC ACIDS RESEARCH

Intra- and inter-molecular recombination of mitochondrial DNA after in vivo induction of multiple double-strand breaks

(2009) S. R. Bacman et al.   NUCLEIC ACIDS RESEARCH

Human mitochondrial RNA turnover caught in flagranti: involvement of hSuv3p helicase in RNA surveillance

(2009) Roman J. Szczesny et al.   NUCLEIC ACIDS RESEARCH

Predicted poxvirus FEN1-like nuclease required for homologous recombination, double-strand break repair and full-size genome formation

(2009) T. G. Senkevich et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Flexibility of Eukaryotic Okazaki Fragment Maturation through Regulated Strand Displacement Synthesis

(2008) Carrie M. Stith et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clonally Expanded Mitochondrial DNA Mutations in Epileptic Individuals With Mutated DNA Polymerase γ

(2008) Gábor Zsurka et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

(2008) Jürgen Cox et al.   NATURE BIOTECHNOLOGY

What causes mitochondrial DNA deletions in human cells?

(2008) Kim J Krishnan et al.   NATURE GENETICS

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

(2008) Marc Vermulst et al.   NATURE GENETICS