Reverse genetic studies of mitochondrial DNA-based diseases using a mouse model

scientific article

Reverse genetic studies of mitochondrial DNA-based diseases using a mouse model is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

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P356DOI10.2183/PJAB.84.155
P932PMC publication ID2858368
P698PubMed publication ID18941295
P5875ResearchGate publication ID23405165

P2093author name stringKazuto Nakada
Jun-Ichi Hayashi
Akitsugu Sato
P2860cites workAccumulation of pathogenic DeltamtDNA induced deafness but not diabetic phenotypes in mito-miceQ45047324
Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brainQ45948111
Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetesQ46915798
Pathogenic mitochondrial DNA-induced respiration defects in hematopoietic cells result in anemia by suppressing erythroid differentiationQ48202720
Mitochondrial DNA deletions in human brain: regional variability and increase with advanced ageQ48403808
Ooplasmic transfer in mature human oocytes.Q48942391
Birth of infant after transfer of anucleate donor oocyte cytoplasm into recipient eggs.Q48954861
Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression.Q52533533
Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes.Q52541455
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathiesQ59055292
A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocatorQ61874674
DECLINE IN SKELETAL MUSCLE MITOCHONDRIAL RESPIRATORY CHAIN FUNCTION: POSSIBLE FACTOR IN AGEINGQ61874684
Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseasesQ69368213
Nuclear but not mitochondrial genome involvement in human age-related mitochondrial dysfunction. Functional integrity of mitochondrial DNA from aged subjectsQ72272885
Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotesQ73035349
Human cells are protected from mitochondrial dysfunction by complementation of DNA products in fused mitochondriaQ74115847
Correlation of functional and ultrastructural abnormalities of mitochondria in mouse heart carrying a pathogenic mutant mtDNA with a 4696-bp deletionQ77103968
Dynamics of meiotic prophase I during spermatogenesis: from pairing to divisionQ77545592
Ageing and mammalian mitochondrial geneticsQ77724537
The mouse and human homologs of DMC1, the yeast meiosis-specific homologous recombination gene, have a common unique form of exon-skipped transcript in meiosisQ24323050
Mitochondrial DNA mutations in human diseaseQ24676881
Condensin and cohesin display different arm conformations with characteristic hinge anglesQ28216842
Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutaseQ28284593
Mitochondrial diseases in man and mouseQ29614555
Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in miceQ29619811
Rare creation of recombinant mtDNA haplotypes in mammalian tissuesQ33770958
Aging-dependent large accumulation of point mutations in the human mtDNA control region for replicationQ33877846
Gene therapy for progeny of mito-mice carrying pathogenic mtDNA by nuclear transplantationQ34133279
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutationQ34152888
Oxidative damage and mitochondrial decay in agingQ34326443
Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.Q34386775
Evidence from human oocytes for a genetic bottleneck in an mtDNA diseaseQ34387007
Mitochondrial function in normal and diabetic beta-cellsQ34462332
In vivo interaction between mitochondria carrying mtDNAs from different mouse speciesQ34645698
Mutations in mitochondrial DNA accumulate differentially in three different human tissues during ageingQ34657233
Transcription of the mammalian mitochondrial genomeQ34709007
Mitochondria-related male infertilityQ35108107
Deletion-mutant mtDNA increases in somatic tissues but decreases in female germ cells with age.Q36416150
A mouse homolog of the Escherichia coli recA and Saccharomyces cerevisiae RAD51 genesQ36420035
(De)constructing mitochondria: what for?Q36547042
Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organellesQ36650913
In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondriaQ36689236
Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodesQ36811500
MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcriptsQ36997897
Functional integrity of mitochondrial genomes in human platelets and autopsied brain tissues from elderly patients with Alzheimer's diseaseQ37172134
Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunctionQ37631878
Going mobile: microtubule motors and chromosome segregationQ37700220
Replication of animal mitochondrial DNA.Q40103664
Generation of trans-mitochondrial mice carrying homoplasmic mtDNAs with a missense mutation in a structural gene using ES cells.Q40322749
Long-term postmortem survival of mitochondrial genomes in mouse synaptosomes and their rescue in a mitochondrial DNA-less mouse cell lineQ41030648
Nuclear-recessive mutations of factors involved in mitochondrial translation are responsible for age-related respiration deficiency of human skin fibroblastsQ41059087
Isolation of mitochondrial DNA-less mouse cell lines and their application for trapping mouse synaptosomal mitochondrial DNA with deletion mutationsQ41105053
Mitochondrial genetics: a paradigm for aging and degenerative diseases?Q41112226
Aging-dependent functional alterations of mitochondrial DNA (mtDNA) from human fibroblasts transferred into mtDNA-less cellsQ41186102
Respiratory chain dysfunction in skeletal muscle does not cause insulin resistanceQ42501703
Isolation and characterization of mitochondrial DNA-less lines from various mammalian cell lines by application of an anticancer drug, ditercaliniumQ42834782
Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice.Q43757469
P433issue5
P921main subjectmitochondrial DNAQ27075
DNAQ7430
mitochondrial diseaseQ935710
animal disease modelQ64732998
biomedical investigative techniqueQ66648976
P304page(s)155-165
P577publication date2008-01-01
P1433published inProceedings of the Japan Academy, Series BQ2675209
P1476titleReverse genetic studies of mitochondrial DNA-based diseases using a mouse model
P478volume84

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cites work (P2860)
Q36444799Physiology and pathophysiology of mitochondrial DNA.
Q37576767Role of reactive oxygen species-elicited apoptosis in the pathophysiology of mitochondrial and neurodegenerative diseases associated with mitochondrial DNA mutations.

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