Human mitochondrial DNA: roles of inherited and somatic mutations (Q37648855)

21 August 2017

Human mitochondrial DNA: roles of inherited and somatic mutations (English)

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21 August 2017

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2

Salvatore DiMauro

1 reference

21 August 2017

Eric A Schon

1

1 reference

21 August 2017

Michio Hirano

series ordinal

3

1 reference

21 August 2017

1 December 2012

1 reference

21 August 2017

Nature Reviews Genetics

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21 August 2017

13

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21 August 2017

12

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21 August 2017

878-890

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https://scigraph.springernature.com/pub.10.1038/nrg3275

21 August 2017

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Decreased mitochondrial DNA mutagenesis in human colorectal cancer

23 August 2017

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Mitochondrial DNA deletions are associated with non-B DNA conformations

23 August 2017

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Metabolite profiling identifies a key role for glycine in rapid cancer cell proliferation

23 August 2017

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Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness

23 August 2017

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Environmental stress increases the entry of cytoplasmic organellar DNA into the nucleus in plants

23 August 2017

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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

23 August 2017

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Regulation of glucose metabolism by p53: emerging new roles for the tumor suppressor

23 August 2017

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Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype

23 August 2017

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Mitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibition

23 August 2017

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Mitochondrial DNA content varies with pathological characteristics of breast cancer

23 August 2017

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Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs

23 August 2017

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Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

23 August 2017

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Nuclear insertions of mitochondrial origin: Database updating and usefulness in cancer studies

23 August 2017

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Mitochondria: the next (neurode)generation

23 August 2017

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Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma

23 August 2017

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Targeting mitochondrial dysfunction: role for PINK1 and Parkin in mitochondrial quality control

23 August 2017

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Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.

23 August 2017

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Common mitochondrial sequence variants in ischemic stroke

23 August 2017

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Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease

23 August 2017

1 reference

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The migration of mitochondrial DNA fragments to the nucleus affects the chronological aging process of Saccharomyces cerevisiae

23 August 2017

1 reference

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Mitochondrial-nuclear epistasis: implications for human aging and longevity

23 August 2017

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Mitochondrial haplogroups associated with lifestyle-related diseases and longevity in the Japanese population

23 August 2017

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Mitochondrial DNA sequences are present inside nuclear DNA in rat tissues and increase with age

23 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

23 August 2017

1 reference

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Molecular poltergeists: mitochondrial DNA copies (numts) in sequenced nuclear genomes

23 August 2017

1 reference

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The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

THE METABOLISM OF TUMORS IN THE BODY

23 August 2017

1 reference

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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

23 August 2017

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An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration

23 August 2017

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Mitochondrial DNA sequence variation and neurodegeneration

23 August 2017

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Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature

23 August 2017

1 reference

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Pathogenic mitochondrial DNA mutations are common in the general population

23 August 2017

1 reference

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Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation

23 August 2017

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Power and SNP tagging in whole mitochondrial genome association studies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

A functionally dominant mitochondrial DNA mutation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Mitochondria in cancer cells: what is so special about them?

23 August 2017

1 reference

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Strong purifying selection in transmission of mammalian mitochondrial DNA

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

The role of mitochondrial DNA mutations in aging and sarcopenia: implications for the mitochondrial vicious cycle theory of aging

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Prevalence of mitochondrial DNA disease in adults

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Appendix 1. Basic properties of mitochondria

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Progressive parkinsonism in mice with respiratory-chain-deficient dopamine neurons

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Mitochondrial respiration defects in cancer cells cause activation of Akt survival pathway through a redox-mediated mechanism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

The pseudo-mitochondrial genome influences mistakes in heteroplasmy interpretation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Somatic mitochondrial DNA mutations in prostate cancer and normal appearing adjacent glands in comparison to age-matched prostate samples without malignant histology

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Approaches to the treatment of mitochondrial diseases

23 August 2017

1 reference

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Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Voltage-dependent anion channel (VDAC) as mitochondrial governator--thinking outside the box

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Absence of pathogenic mitochondrial DNA mutations in mouse brain tumors

23 August 2017

1 reference

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Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Mitochondrial respiratory-chain diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

On the origin of mitosing cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Nitric oxide partitioning into mitochondrial membranes and the control of respiration at cytochrome c oxidase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Role of adenine nucleotide translocator 1 in mtDNA maintenance

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Mutations in mtDNA: are we scraping the bottom of the barrel?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Co-localization of mitochondrial and double minute DNA in the nuclei of HL-60 cells but not normal cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Somatic mutations of the mitochondrial genome in human colorectal tumours

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Sequence and organization of the human mitochondrial genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Mitochondrial DNA and human evolution

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Kearns-Sayre syndrome with muscle mitochondrial DNA deletion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

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 episodes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

New morphological approaches to the study of mitochondrial encephalomyopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Monogenic mitochondrial disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Mechanisms of mitochondrial diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Generation, function and diagnostic value of mitochondrial DNA copy number alterations in human cancers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Were inefficient mitochondrial haplogroups selected during migrations of modern humans? A test using modular kinetic analysis of coupling in mitochondria from cybrid cell lines

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Effects of purifying and adaptive selection on regional variation in human mtDNA.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Gene amplification as double minutes or homogeneously staining regions in solid tumors: origin and structure

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Akt inhibits apoptosis downstream of BID cleavage via a glucose-dependent mechanism involving mitochondrial hexokinases

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Isolation of human cell lines lacking mitochondrial DNA.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Tumor-forming ability in athymic nude mice of human cell lines devoid of mitochondrial DNA.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

The 4977 bp deletion of mitochondrial DNA in human skeletal muscle, heart and different areas of the brain: a useful biomarker or more?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Inhibition of cytochrome c oxidase in turnover by nitric oxide: mechanism and implications for control of respiration

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Enzyme patterns of tumors demonstrated histochemically in cryostat sections

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Dihydroorotate-quinone reductase of Neurospora crassa mitochondria.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Recovery of the missing tumorigenicity in mitochondrial DNA-less HeLa cells by introduction of mitochondrial DNA from normal human cells

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Analysis of European case-control studies suggests that common inherited variation in mitochondrial DNA is not involved in susceptibility to amyotrophic lateral sclerosis

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Circulating mitochondrial DNA in serum: a universal diagnostic biomarker for patients with urological malignancies.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Different characteristics of mitochondrial microsatellite instability between uterine leiomyomas and leiomyosarcomas

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Control of mitochondrial integrity in Parkinson's disease.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Mitochondrial haplogroup H correlates with ATP levels and age at onset in Huntington disease.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Prevalence of mitochondrial 1555A-->G mutation in adults of European descent.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Relative sensitivity of soluble guanylate cyclase and mitochondrial respiration to endogenous nitric oxide at physiological oxygen concentration

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Associating mitochondrial DNA variation with complex traits

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox".

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

L-arginine improves the symptoms of strokelike episodes in MELAS.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Polymorphic NumtS trace human population relationships

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to differences in respiratory chain function or efficiency of replication

2 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959762

KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION

2 October 2018

1 reference

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

21 January 2018

1 reference

Mitochondrial Genome Deletion Aids in the Identification of False- and True-Negative Prostate Needle Core Biopsy Specimens

21 January 2018

1 reference

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

1 reference

Mitochondrial DNA and disease

21 January 2018

1 reference

Heteroplasmic mitochondrial tRNA(Lys) mutation and its complementation in MERRF patient-derived mitochondrial transformants

31 March 2020

1 reference

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

31 March 2020

1 reference

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

31 March 2020

1 reference

Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions

31 March 2020

1 reference

Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances

31 March 2020

1 reference

Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions

31 March 2020

1 reference

Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR

31 March 2020

1 reference

Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres

31 March 2020

1 reference

Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues

31 March 2020

1 reference

Analysis of mtDNA deletions in muscle by in situ hybridization

31 March 2020

1 reference

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

31 March 2020

1 reference

Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes

31 March 2020

1 reference

Prevalence of Mitochondrial 1555A→G Mutation in European Children

31 March 2020

1 reference

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA

31 March 2020

1 reference

No evidence of association between frontotemporal dementia and major European mtDNA haplogroups

31 March 2020

1 reference

Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia

31 March 2020

1 reference

The Human Genome Project Reveals a Continuous Transfer of Large Mitochondrial Fragments to the Nucleus

31 March 2020

1 reference

Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation

31 March 2020

1 reference

Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?

31 March 2020

1 reference

Cytochrome c oxidase activity is deficient in blood vessels of patients with myoclonus epilepsy with ragged-red fibers

31 March 2020

1 reference

RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS

31 March 2020

1 reference

A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23154810

12 December 2020

inferred from PubMed ID database lookup

In vivo inhibition of the pyrimidine de novo enzyme dihydroorotic acid dehydrogenase by brequinar sodium (DUP-785; NSC 368390) in mice and patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23154810

12 December 2020

inferred from PubMed ID database lookup

Reduced mitochondrial DNA copy number is correlated with tumor progression and prognosis in Chinese breast cancer patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23154810

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/NRG3275

1 reference

Dimensions Publication ID

21 August 2017

1052802710

0 references

Fatcat ID

release_aogkb5p67nbitdezfuitpicghi

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/aogkb5p67nbitdezfuitpicghi

24 November 2022

mapped directly with Wikidata item

1 reference

21 August 2017

1 reference