Mouse models for mitochondrial diseases

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism

(2016) Joni Nikkanen et al.   Cell Metabolism

Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy

(2016) Javier Torres-Torronteras et al.   HUMAN GENE THERAPY

Applying the Airbrakes: Treating Mitochondrial Disease with Hypoxia

(2016) Oliver M. Russell et al.   MOLECULAR CELL

ViableRNaseH1knockout mice show RNaseH1 is essential for R loop processing, mitochondrial and liver function

(2016) Walt F. Lima et al.   NUCLEIC ACIDS RESEARCH

Hypoxia as a therapy for mitochondrial disease

(2016) I. H. Jain et al.   SCIENCE

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

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

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

(2015) Minal J. Menezes et al.   HUMAN MOLECULAR GENETICS

Mitochondrial transcript maturation and its disorders

(2015) Lindsey Van Haute et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial Diseases Part I: Mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors

(2015) Alessandra Torraco et al.   MITOCHONDRION

Mitochondrial Diseases Part III: Therapeutic interventions in mouse models of OXPHOS deficiencies

(2015) Susana Peralta et al.   MITOCHONDRION

Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function

(2015) Luisa Iommarini et al.   MITOCHONDRION

Increasing the efficiency of precise genome editing with CRISPR-Cas9 by inhibition of nonhomologous end joining

(2015) Takeshi Maruyama et al.   NATURE BIOTECHNOLOGY

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

(2015) Felix Distelmaier et al.   NEUROGENETICS

Imbalanced OPA1 processing and mitochondrial fragmentation cause heart failure in mice

(2015) T. Wai et al.   SCIENCE

Mutation in MRPS34 Compromises Protein Synthesis and Causes Mitochondrial Dysfunction

(2015) Tara R. Richman et al.   PLoS Genetics

SLIRP Regulates the Rate of Mitochondrial Protein Synthesis and Protects LRPPRC from Degradation

(2015) Marie Lagouge et al.   PLoS Genetics

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

(2015) Christin Tischner et al.   HUMAN MOLECULAR GENETICS

Tissue-Specific Loss of DARS2 Activates Stress Responses Independently of Respiratory Chain Deficiency in the Heart

(2014) Sukru Anil Dogan et al.   Cell Metabolism

Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3

(2014) Nahid A Khan et al.   EMBO Molecular Medicine

A Mouse Geneticist's Practical Guide to CRISPR Applications

(2014) P. Singh et al.   GENETICS

POLRMT does not transcribe nuclear genes

(2014) Inge Kühl et al.   NATURE

Generating genetically modified mice using CRISPR/Cas-mediated genome engineering

(2014) Hui Yang et al.   Nature Protocols

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

(2014) H. Morino et al.   NEUROLOGY

A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs

(2014) T. Suzuki et al.   NUCLEIC ACIDS RESEARCH

MTO1-Deficient Mouse Model Mirrors the Human Phenotype Showing Complex I Defect and Cardiomyopathy

(2014) Lore Becker et al.   PLoS One

NSUN4 Is a Dual Function Mitochondrial Protein Required for Both Methylation of 12S rRNA and Coordination of Mitoribosomal Assembly

(2014) Metodi Dimitrov Metodiev et al.   PLoS Genetics

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

(2013) Valérie Serre et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Generation of gene-modified mice via Cas9/RNA-mediated gene targeting

(2013) Bin Shen et al.   CELL RESEARCH

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

(2013) Enrico Baruffini et al.   HUMAN MUTATION

One-step generation of different immunodeficient mice with multiple gene modifications by CRISPR/Cas9 mediated genome engineering

(2013) Jiankui Zhou et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

(2013) Christopher J Carroll et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

(2013) Chitra Prasad et al.   MOLECULAR GENETICS AND METABOLISM

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Zebrafish as a model system for mitochondrial biology and diseases

(2013) Shelby L. Steele et al.   Translational Research

The post-transcriptional life of mammalian mitochondrial RNA

(2012) Joanna Rorbach et al.   BIOCHEMICAL JOURNAL

Human Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases

(2011) Tsutomu Suzuki et al.   Annual Review of Genetics

LRPPRC mutation suppresses cytochrome oxidase activity by altering mitochondrial RNA transcript stability in a mouse model

(2011) Fenghao Xu et al.   BIOCHEMICAL JOURNAL

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

(2011) Benedetta Ruzzenente et al.   EMBO JOURNAL

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

(2011) Louise Galmiche et al.   HUMAN MUTATION

Ketogenic diet slows down mitochondrial myopathy progression in mice

(2010) Sofia Ahola-Erkkilä et al.   HUMAN MOLECULAR GENETICS

Disease Variants of the Human Mitochondrial DNA Helicase Encoded byC10orf2Differentially Alter Protein Stability, Nucleotide Hydrolysis, and Helicase Activity

(2010) Matthew J. Longley et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

LRPPRC and SLIRP Interact in a Ribonucleoprotein Complex That Regulates Posttranscriptional Gene Expression in Mitochondria

(2010) Florin Sasarman et al.   MOLECULAR BIOLOGY OF THE CELL

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

Disruption of Supv3L1 damages the skin and causes sarcopenia, loss of fat, and death

(2009) Erin Paul et al.   MAMMALIAN GENOME

FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency

(2008) Daniele Ghezzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ENU Mutagenesis, a Way Forward to Understand Gene Function

(2008) Abraham Acevedo-Arozena et al.   Annual Review of Genomics and Human Genetics

Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochromebexpression and a marked reduction in ubiquinol–cytochromecreductase activity in mouse heart mitochondria

(2008) Fenghao Xu et al.   BIOCHEMICAL JOURNAL

Mice with Mitochondrial Complex I Deficiency Develop a Fatal Encephalomyopathy

(2008) Shane E. Kruse et al.   Cell Metabolism