Related references
Note: Only part of the references are listed.MtDNA-maintenance defects: syndromes and genes
Carlo Viscomi et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Characterizing the mitochondrial DNA polymerase gamma interactome by BioID identifies Ruvbl2 localizes to the mitochondria
Sanduni U. Liyanage et al.
MITOCHONDRION (2017)
Transcriptomic and proteomic landscape of mitochondrial dysfunction reveals secondary coenzyme Q deficiency in mammals
Inge Kuehl et al.
ELIFE (2017)
Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases
Karen L. DeBalsi et al.
AGEING RESEARCH REVIEWS (2017)
Increased Total mtDNA Copy Number Cures Male Infertility Despite Unaltered mtDNA Mutation Load
Min Jiang et al.
CELL METABOLISM (2017)
Mitochondrial DNA maintenance defects
Ayman W. El-Hattab et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2017)
Mammalian Mitochondria and Aging: An Update
Timo E. S. Kauppila et al.
CELL METABOLISM (2017)
Human mitochondrial DNA replication machinery and disease
Matthew J. Young et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2016)
MGME1 processes flaps into ligatable nicks in concert with DNA polymerase γ during mtDNA replication
Jay P. Uhler et al.
NUCLEIC ACIDS RESEARCH (2016)
Mitochondrial transcription termination factor 1 directs polar replication fork pausing
Yonghong Shi et al.
NUCLEIC ACIDS RESEARCH (2016)
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria
Ilaria Dalla Rosa et al.
PLOS GENETICS (2016)
POLRMT regulates the switch between replication primer formation and gene expression of mammalian mtDNA
Inge Kuehl et al.
SCIENCE ADVANCES (2016)
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
Aurelio Reyes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Primer removal during mammalian mitochondrial DNA replication
Jay P. Uhler et al.
DNA REPAIR (2015)
Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element
Elisabeth Jemt et al.
NUCLEIC ACIDS RESEARCH (2015)
Cross-strand binding of TFAM to a single mtDNA molecule forms the mitochondrial nucleoid
Christian Kukat et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (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)
MtDNA mutagenesis impairs elimination of mitochondria during erythroid maturation leading to enhanced erythrocyte destruction
K. J. Ahlqvist et al.
NATURE COMMUNICATIONS (2015)
The Respiratory Chain Supercomplex Organization Is Independent of COX7a2l Isoforms
Arnaud Mourier et al.
CELL METABOLISM (2014)
In D-loop: 40 years of mitochondrial 7S DNA
Thomas J. Nicholls et al.
EXPERIMENTAL GERONTOLOGY (2014)
Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease
Thomas J. Nicholls et al.
HUMAN MOLECULAR GENETICS (2014)
Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability
Dario Ronchi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mitochondrial genetics
Patrick Francis Chinnery et al.
BRITISH MEDICAL BULLETIN (2013)
MTERF1 Binds mtDNA to Prevent Transcriptional Interference at the Light-Strand Promoter but Is Dispensable for rRNA Gene Transcription Regulation
Muegen Terzioglu et al.
CELL METABOLISM (2013)
TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication
Dusanka Milenkovic et al.
HUMAN MOLECULAR GENETICS (2013)
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
Cornelia Kornblum et al.
NATURE GENETICS (2013)
Identification of a novel human mitochondrial endo-/exonuclease Ddk1/c20orf72 necessary for maintenance of proper 7S DNA levels
Roman J. Szczesny et al.
NUCLEIC ACIDS RESEARCH (2013)
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
Dario Ronchi et al.
BRAIN (2012)
A hybrid G-quadruplex structure formed between RNA and DNA explains the extraordinary stability of the mitochondrial R-loop
Paulina H. Wanrooij et al.
NUCLEIC ACIDS RESEARCH (2012)
Modeling Pathogenic Mutations of Human Twinkle in Drosophila Suggests an Apoptosis Role in Response to Mitochondrial Defects
Alvaro Sanchez-Martinez et al.
PLOS ONE (2012)
Super-resolution microscopy reveals that mammalian mitochondrial nucleoids have a uniform size and frequently contain a single copy of mtDNA
Christian Kukat et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Ultra-Deep Sequencing of Mouse Mitochondrial DNA: Mutational Patterns and Their Origins
Adam Ameur et al.
PLOS GENETICS (2011)
Somatic Mitochondrial DNA Mutations in Mammalian Aging
Nils-Goeran Larsson
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 79 (2010)
Mouse models of mtDNA replication diseases
Henna Tyynismaa et al.
METHODS (2010)
Maintenance of respiratory chain function in mouse hearts with severely impaired mtDNA transcription
Christoph Freyer et al.
NUCLEIC ACIDS RESEARCH (2010)
Random Point Mutations with Major Effects on Protein-Coding Genes Are the Driving Force behind Premature Aging in mtDNA Mutator Mice
Daniel Edgar et al.
CELL METABOLISM (2009)
Mice expressing an error-prone DNA polymerase in mitochondria display elevated replication pausing and chromosomal breakage at fragile sites of mitochondrial DNA
Laura J. Bailey et al.
NUCLEIC ACIDS RESEARCH (2009)
Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia
Matthew J. Longley et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Mitochondrial DNA and ageing
Aleksandra Trifunovic
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2006)
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
A Spinazzola et al.
NATURE 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)
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit
SSL Chan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging
GC Kujoth et al.
SCIENCE (2005)
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
O Elpeleg et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Premature ageing in mice expressing defective mitochondrial DNA polymerase
A Trifunovic et al.
NATURE (2004)
TWINKLE has 5′→3′ DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein
JA Korhonen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
A Saada et al.
NATURE GENETICS (2001)
Mechanism of mammalian mitochondrial DNA replication:: import of mitochondrial transcription factor A into isolated mitochondria stimulates 7S DNA synthesis
S Gensler 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)
Inhibition of mitochondrial protein synthesis promotes autonomous regulation of mtDNA expression and generation of a new mitochondrial RNA species
SP Selwood et al.
FEBS LETTERS (2001)