Mitochondrial DNA mutations in disease and aging

Unraveling the Biological Roles of Reactive Oxygen Species

(2011) Michael P. Murphy et al.   Cell Metabolism

Ultra-Deep Sequencing of Mouse Mitochondrial DNA: Mutational Patterns and Their Origins

(2011) Adam Ameur et al.   PLoS Genetics

Physiological functions of mitochondrial fusion

(2010) Hsiuchen Chen et al.   Annals of the New York Academy of Sciences

Somatic Mitochondrial DNA Mutations in Mammalian Aging

(2010) Nils-Göran Larsson   Annual Review of Biochemistry

Over-expression of Tfam improves the mitochondrial disease phenotypes in a mouse model system

(2010) Satoshi Nishiyama et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Structure of mitochondrial transcription termination factor 3 reveals a novel nucleic acid-binding domain

(2010) Henrik Spåhr et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Helix Unwinding and Base Flipping Enable Human MTERF1 to Terminate Mitochondrial Transcription

(2010) Elena Yakubovskaya et al.   CELL

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

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

High mitochondrial DNA copy number has detrimental effects in mice

(2010) Emil Ylikallio et al.   HUMAN MOLECULAR GENETICS

Human Mitochondrial Transcription Revisited

(2010) Dmitry Litonin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The innate immune system in host mice targets cells with allogenic mitochondrial DNA

(2010) Kaori Ishikawa et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2010) Javier Miralles Fusté et al.   MOLECULAR CELL

Reassessing evidence for a postnatal mitochondrial genetic bottleneck

(2010) David C Samuels et al.   NATURE GENETICS

Overexpression of mitochondrial transcription factor A (TFAM) ameliorates delayed neuronal death due to transient forebrain ischemia in mice

(2010) Masaaki Hokari et al.   NEUROPATHOLOGY

Parkin overexpression selects against a deleterious mtDNA mutation in heteroplasmic cybrid cells

(2010) D.-F. Suen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PINK1 Is Selectively Stabilized on Impaired Mitochondria to Activate Parkin

(2010) Derek P. Narendra et al.   PLOS BIOLOGY

Gimap3 Regulates Tissue-Specific Mitochondrial DNA Segregation

(2010) Riikka Jokinen et al.   PLoS Genetics

Do mtDNA deletions drive premature aging in mtDNA mutator mice?

(2009) Yevgenya Kraytsberg et al.   AGING CELL

Parkin-induced mitophagy in the pathogenesis of Parkinson disease

(2009) Derek Narendra et al.   Autophagy

MTERF2 is a nucleoid component in mammalian mitochondria

(2009) Mina Pellegrini et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Structure Casts Light on mtDNA Replication

(2009) Maria Falkenberg et al.   CELL

TFB2 Is a Transient Component of the Catalytic Site of the Human Mitochondrial RNA Polymerase

(2009) Marina Sologub et al.   CELL

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

(2009) Young-Sam Lee et al.   CELL

RETRACTED: mTERF2 Regulates Oxidative Phosphorylation by Modulating mtDNA Transcription

(2009) Tina Wenz et al.   Cell Metabolism

Methylation of 12S rRNA Is Necessary for In Vivo Stability of the Small Subunit of the Mammalian Mitochondrial Ribosome

(2009) Metodi D. Metodiev et al.   Cell Metabolism

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

Mice Deficient in Both Mn Superoxide Dismutase and Glutathione Peroxidase-1 Have Increased Oxidative Damage and a Greater Incidence of Pathology but No Reduction in Longevity

(2009) Y. Zhang et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

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

Increased muscle PGC-1  expression protects from sarcopenia and metabolic disease during aging

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

New Evidence Confirms That the Mitochondrial Bottleneck Is Generated without Reduction of Mitochondrial DNA Content in Early Primordial Germ Cells of Mice

(2009) Liqin Cao et al.   PLoS Genetics

How mitochondria produce reactive oxygen species

(2008) Michael P. Murphy   BIOCHEMICAL JOURNAL

RETRACTED: Activation of the PPAR/PGC-1α Pathway Prevents a Bioenergetic Deficit and Effectively Improves a Mitochondrial Myopathy Phenotype

(2008) Tina Wenz et al.   Cell Metabolism

Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice

(2008) X. Zhou et al.   HUMAN MOLECULAR GENETICS

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance

(2008) Hasan O. Akman et al.   HUMAN MOLECULAR GENETICS

Age-associated mosaic respiratory chain deficiency causes trans-neuronal degeneration

(2008) E. Dufour et al.   HUMAN MOLECULAR GENETICS

Increased mitochondrial Ca 2+ and decreased sarcoplasmic reticulum Ca 2+ in mitochondrial myopathy

(2008) Jan Aydin et al.   HUMAN MOLECULAR GENETICS

Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

(2008) Derek Narendra et al.   JOURNAL OF CELL BIOLOGY

Essential role for Nix in autophagic maturation of erythroid cells

(2008) Hector Sandoval et al.   NATURE

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

(2008) Timothy Wai et al.   NATURE GENETICS

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

(2008) Lynsey M Cree et al.   NATURE GENETICS

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

(2008) Marc Vermulst et al.   NATURE GENETICS

Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease

(2008) James Bruce Stewart et al.   NATURE REVIEWS GENETICS

Sidestepping Mutational Meltdown

(2008) Eric A. Shoubridge et al.   SCIENCE

A Mouse Model of Mitochondrial Disease Reveals Germline Selection Against Severe mtDNA Mutations

(2008) Weiwei Fan et al.   SCIENCE

Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA

(2008) James Bruce Stewart et al.   PLOS BIOLOGY