(Q38872626)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329762%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

review article

1 reference

title

Mouse models for mitochondrial diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329762%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

2

1 reference

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14 March 2020

Metodi D Metodiev

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329762%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

author name string

Benedetta Ruzzenente

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329762%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

publication date

21 June 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329762%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329762%20AND%20SRC:MED&resulttype=core&format=json

Modeling human mitochondrial diseases in flies

14 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Zebrafish as a model system for mitochondrial biology and diseases

21 January 2018

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Generation of conditional knockout mice.

21 January 2018

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RNA-guided genome editing of mammalian cells.

21 January 2018

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Genome engineering using the CRISPR-Cas9 system

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

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Gene-trap mutagenesis: past, present and beyond

21 January 2018

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ENU mutagenesis, a way forward to understand gene function

21 January 2018

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Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

The post-transcriptional life of mammalian mitochondrial RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Mitochondrial transcript maturation and its disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Tissue-specific loss of DARS2 activates stress responses independently of respiratory chain deficiency in the heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

POLRMT does not transcribe nuclear genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Interaction of human SUV3 RNA/DNA helicase with BLM helicase; loss of the SUV3 gene results in mouse embryonic lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Molecular mechanism of codon recognition by tRNA species with modified uridine in the first position of the anticodon

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

A conserved modified wobble nucleoside (mcm5s2U) in lysyl-tRNA is required for viability in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Ketogenic diet slows down mitochondrial myopathy progression in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Mutation in MRPS34 compromises protein synthesis and causes mitochondrial dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Enzyme from calf thymus degrading the RNA moiety of DNA-RNA Hybrids: effect on DNA-dependent RNA polymerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Failure to produce mitochondrial DNA results in embryonic lethality in Rnaseh1 null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Imbalanced OPA1 processing and mitochondrial fragmentation cause heart failure in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Hypoxia as a therapy for mitochondrial disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

Applying the Airbrakes: Treating Mitochondrial Disease with Hypoxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

A mouse geneticist's practical guide to CRISPR applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW176

21 January 2018

Identifiers

DOI

10.1093/HMG/DDW176

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329762%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

1 reference