Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse

SnapShot: Mitochondrial Nucleoid

(2018) Nina A. Bonekamp et al.   CELL

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

(2018) John P Grady et al.   EMBO Molecular Medicine

Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations

(2018) Tianhong Su et al.   JOURNAL OF PATHOLOGY

MitoTALEN reduces mutant mtDNA load and restores tRNAAla levels in a mouse model of heteroplasmic mtDNA mutation

(2018) Sandra R. Bacman et al.   NATURE MEDICINE

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

(2018) Payam A. Gammage et al.   NATURE MEDICINE

Human mitochondrial nucleases

(2017) Francesco Bruni et al.   FEBS Journal

Definition of a High-Confidence Mitochondrial Proteome at Quantitative Scale

(2017) Marcel Morgenstern et al.   Cell Reports

The Mitochondrial Basis of Aging and Age-Related Disorders

(2017) Sarika Srivastava   Genes

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease

(2016) Johanna H.K. Kauppila et al.   Cell Reports

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

The mtDNA mutator mouse: Dissecting mitochondrial involvement in aging

(2016) Daniel Edgar et al.   Aging-US

The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease

(2015) James B. Stewart et al.   NATURE REVIEWS GENETICS

A model for transcription initiation in human mitochondria

(2015) Yaroslav I. Morozov et al.   NUCLEIC ACIDS RESEARCH

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

(2015) Sarah E. Calvo et al.   NUCLEIC ACIDS RESEARCH

A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis

(2015) Mariana C. Rocha et al.   Scientific Reports

The Respiratory Chain Supercomplex Organization Is Independent of COX7a2l Isoforms

(2014) Arnaud Mourier et al.   Cell Metabolism

Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations

(2014) P. A. Gammage et al.   EMBO Molecular Medicine

Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humans

(2014) Holly L. Baines et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

(2013) Carla Giordano et al.   BRAIN

Mitochondrial genetics

(2013) P. F. Chinnery et al.   BRITISH MEDICAL BULLETIN

Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs

(2013) Sandra R Bacman et al.   NATURE MEDICINE

New treatments for mitochondrial disease—no time to drop our standards

(2013) Gerald Pfeffer et al.   Nature Reviews Neurology

A matter of life and death: self-renewal in stem cells

(2012) Elaine Fuchs et al.   EMBO REPORTS

In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis

(2011) Carlo Viscomi et al.   Cell Metabolism

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

(2011) Adam Ameur et al.   PLoS Genetics

Mitochondrial DNA mutations and human disease

(2009) Helen A.L. Tuppen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Number matters: control of mammalian mitochondrial DNA copy number

(2009) Laura L. Clay Montier et al.   Journal of Genetics and Genomics

Selection against Pathogenic mtDNA Mutations in a Stem Cell Population Leads to the Loss of the 3243A→G Mutation in Blood

(2008) Harsha Karur Rajasimha et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The intestinal stem cell

(2008) N. Barker et al.   GENES & DEVELOPMENT