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  • |title=Nucleoids and mtDNA dynamics regulation by mitochondrial ultrastructure. ...for nucleoids and mtDNA stability. Our results suggest that nucleoids and mtDNA stability is regulated by mitochondrial ultrastructure.
    1 KB (200 words) - 17:23, 14 December 2016
  • ...ng, Bayesian inference, and new in vivo measurements elucidate the debated mtDNA bottleneck mechanism. ...certainty surrounding this process limits our ability to address inherited mtDNA diseases.
    2 KB (231 words) - 15:39, 10 April 2015
  • ...called nucleoids. In this novel context, aconitase functions to stabilize mtDNA, perhaps by reversibly remodeling nucleoids to directly influence mitochond
    997 bytes (131 words) - 02:54, 5 November 2023
  • ...iety of human diseases including obesity. However, the mechanisms by which mtDNA variation and the gut microbiota modulate disease risk remains unknown. Our ...differences in gut microbiota in our conplastic mice which differ in their mtDNA lineages. Further, the transfer of the gut microbiota from a host of one mi
    2 KB (314 words) - 15:29, 18 July 2023
  • ...induced pluripotent stem cells; determine DNA methylation patterns of the mtDNA-specific replication factors; and assess mitochondrial OXPHOS capacity. |keywords=Differentiation, Mitochondrial DNA, OXPHOS, POLGA, Pluripotency, mtDNA replication
    2 KB (302 words) - 15:07, 13 November 2017
  • ...equency with mtRNA integrity allows us to estimate the tolerance level for mtDNA mutation frequency. ...A, thereby providing an explanation for the apparent high tolerance for ES mtDNA mutations.
    2 KB (291 words) - 16:21, 9 November 2016
  • ...lares para el estudio del efecto fenotipico de la variacion genetica en el mtDNA. Thesis 1-35. ...molecules placed in mitochondria and known as mitochondrial DNA (mtDNA). mtDNA encodes 13 subunits very important for the oxidative phosphorylation syste
    1 KB (193 words) - 14:20, 9 November 2016
  • |title=Zapico SC, Ubelaker DH (2013) mtDNA mutations and their role in aging, diseases and forensic sciences. Aging Di ...ience research. Therefore this review will help to clarify the key role of mtDNA mutations in these processes and support further research in this area.
    2 KB (263 words) - 21:45, 18 December 2023
  • ...every year. Numerous studies of mtDNA in cancer have shown differences in mtDNA sequences between tumor and normal tissue and at various stages of cancer t ...ne sequence were examined, whereas in the remaining six patients the whole mtDNA sequence was studied. In some patients polymorphisms whose levels varied du
    1 KB (198 words) - 14:02, 19 April 2017
  • ...ape of germline and tumor mtDNA mutations and identifies hotspots of tumor mtDNA mutations to pinpoint key mitochondrial functions in pediatric malignancies |area=mtDNA;mt-genetics
    2 KB (262 words) - 19:20, 29 January 2024
  • ...etions of up to 7 kilobases in length. These observations demonstrate that mtDNA heteroplasmy can occur in man and that human disease may be associated with
    2 KB (212 words) - 16:19, 13 September 2023
  • ...hole individuals. The results show that a small set of naturally occurring mtDNA mutations can have a significant influence on mitochondrial bioenergetics t |keywords=Mitochondrial bioenergetics, Reactive oxygen species, mtDNA copy number
    1 KB (189 words) - 17:26, 9 November 2017
  • ...drial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro. https://doi.org/10.1038/s42003-021-02069-2 ...during early development likely modulate the amount of mtDNA, facilitating mtDNA segregation and contributing to tissue-specific mutation loads.
    2 KB (239 words) - 23:12, 15 July 2022
  • cells. Mitochondria contain their own genome, mitochondrial DNA (mtDNA) that generator of cellular energy. Precise regulation of mtDNA copy number is
    3 KB (384 words) - 17:45, 9 November 2017
  • ...obic performance, characterized by maximal oxygen uptake (VO2max). Whether mtDNA haplogroups are also associated with the status of being an elite endurance |area=mtDNA;mt-genetics, Exercise physiology;nutrition;life style
    2 KB (209 words) - 15:02, 17 February 2015
  • ...the tumor formation process. These outcomes demonstrate the importance of mtDNA to the initiation and maintenance of tumorigenesis in glioblastoma multifor ...(mtDNA), Glioblastoma multiforme (GBM), Tumorigenesis, mtDNA copy number, mtDNA set point, ATP, human neural stem cells, glioblastoma cells
    3 KB (361 words) - 17:45, 9 November 2017
  • ...repair these mtDNA errors results in mtDNA mutations. Clonal expansion of mtDNA mutations results in mitochondrial dysfunction, such as decreased electron
    2 KB (213 words) - 12:22, 22 October 2023
  • ...Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 303:223-6. ...ensity for energy deficiency diseases as well as longevity. Thus, specific mtDNA replacement mutations permitted our ancestors to adapt to more northern cli
    1 KB (179 words) - 12:23, 26 February 2015
  • ...hepatocytes. Bone marrow metaphase cells from both young and old rats show mtDNA at centromeric regions in 20 out of the 2n=40 chromosomes. Consequently, mi |area=mtDNA;mt-genetics, nDNA;cell genetics
    2 KB (279 words) - 16:06, 12 October 2016
  • ...t caused by damage accumulation, but rather are due to clonal expansion of mtDNA replication errors that occur during development. Here we discuss the cavea |area=mt-Biogenesis;mt-density, mtDNA;mt-genetics, Comparative MiP;environmental MiP, mt-Medicine, Pharmacology;t
    2 KB (216 words) - 18:50, 9 October 2023
  • ...PD research field and summarize various aspects of how and to what extent mtDNA variants may contribute to the etiology of PD. |keywords=Cybrids, Mitochondria, Mitochondrial genome, Parkinson’s disease, mtDNA
    2 KB (300 words) - 14:41, 22 June 2022
  • ...uclear encoded OXPHOS subunits. These results are congruent with the major mtDNA haplogroups, which suggests that OXPHOS complexes are different across the |keywords=mtDNA haplogroups
    1 KB (155 words) - 16:31, 26 March 2018
  • ...ed mitochondrial sequence variation in the D-loop region and in 5 genes of mtDNA in bone marrow samples of 6 pediatric patients with ALL at various stages o |keywords=Chemotherapy, mtDNA, Pediatric ALL
    1 KB (194 words) - 14:03, 19 April 2017
  • ...he development of new avenues for the therapeutic treatment for pathogenic mtDNA transmission. |area=mtDNA;mt-genetics, Gender, mt-Medicine, Patients
    2 KB (308 words) - 18:51, 16 January 2021
  • ...g H (2017) Generation and bioenergetic profiles of cybrids with east Asian mtDNA haplogroups. Oxid Med Cell Longev 2017:1062314. ...m can reveal predisposition to certain diseases conferred by variations in mtDNA.
    2 KB (308 words) - 17:50, 5 December 2017
  • ...Schöpf B, Kloss-Brandstätter A, Specht G, Kronenberg F, Schönherr S (2016) mtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA ...hase 3 data (n= 2,504) in less than 5 h and is freely accessible athttps://mtdna-server.uibk.ac.at.
    2 KB (277 words) - 11:39, 14 July 2016
  • ...e created fly models are valuable tools to study germ line transmission of mtDNA and the pathophysiology of POLγA mutation disease. |area=Respiration, mtDNA;mt-genetics, Genetic knockout;overexpression
    2 KB (270 words) - 17:02, 9 November 2017
  • ...randon, Procaccio and Wallace (2004) Science 303, 223-226] that particular mtDNA haplogroups (specific combinations of polymorphisms) that cause lowered cou |area=Respiration, mtDNA;mt-genetics, Comparative MiP;environmental MiP
    1 KB (177 words) - 16:02, 19 February 2015
  • ...lva J, Rocha T, Arnold C, Richards M, Macaulay V (2007) No evidence for an mtDNA role in sperm motility: data from complete sequencing of asthenozoospermic ...is is strong evidence against the accepted claim of a major role played by mtDNA in male fertility, once supported by haplogroup association studies based o
    1 KB (166 words) - 11:18, 25 March 2016
  • ...te that age-related muscle mitochondrial dysfunction is related to reduced mtDNA and muscle functional changes that are common in the elderly.
    2 KB (223 words) - 23:09, 9 April 2023
  • ...this phenomenon. Our results underline marked change in the regulation of mtDNA transcripts as humans left Africa to populate the rest of the world. |area=mtDNA;mt-genetics, nDNA;cell genetics, Comparative MiP;environmental MiP
    2 KB (253 words) - 13:57, 25 August 2015
  • ...ead to the oncocytic phenotype: pathogenicity analysis of reported somatic mtDNA mutations in tumors. BMC Cancer 12:53. |abstract=The presence of somatic mitochondrial DNA (mtDNA) mutations in cancer cells has been interpreted in controversial ways, rang
    2 KB (340 words) - 15:37, 23 March 2016
  • ...espectively. Herein we review the evidence for both inherited and acquired mtDNA mutations contributing to neural aging and neurodegenerative disease. This
    1 KB (151 words) - 15:04, 19 December 2023
  • ...si C, Horner D, Reyes A, Sbisa E, Tullo A, Pesole G (2014) Tissue-specific mtDNA abundance from exome data and its correlation 2 with mitochondrial transcri ...ur methodology makes thus feasible, at a large scale, the investigation of mtDNA copy number in diverse cell-types, tissues and pathological conditions or i
    2 KB (328 words) - 15:16, 19 October 2016
  • ...are constant and similar in both cell types. Our results demonstrate that mtDNA integrity is essential for effective mitochondrial maturation during NSC di |area=Respiration, mt-Biogenesis;mt-density, mtDNA;mt-genetics
    2 KB (306 words) - 16:23, 9 November 2016
  • ...on of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants. Nucleic Acids Research 34:e95 ...greatly improved if we were able to transfect mitochondria and manipulate mtDNA ''in vivo''.
    2 KB (343 words) - 13:42, 27 March 2018
  • ...na J, Al-Gazali L, Bradley DG, Macaulay V, Amorim A (2005) High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugi ...ed coding-region segments of the mtDNA genome in 649 individuals harboring mtDNA haplogroup H from populations throughout Europe, the Caucasus, and the Near
    2 KB (322 words) - 11:30, 25 March 2016
  • ...rates that Top1mt is required for normal mtDNA homeostasis and for linking mtDNA expansion with hepatocyte proliferation.
    2 KB (302 words) - 14:54, 13 November 2017
  • ...ukernik RI, Olckers A, Wallace DC (2003) Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci U S A 100:171-6. ...e conclude that selection may have played a role in shaping human regional mtDNA variation and that one of the selective influences was climate.
    2 KB (368 words) - 12:16, 26 February 2015
  • ...otein variations reveals equal purifying selection across the global human mtDNA diversity. Am J Hum Genet 88:433-9. ...provide a list of all possible single amino acid variations for the human mtDNA-encoded proteins with their predicted pathogenicity scores and our measured
    2 KB (280 words) - 16:41, 23 March 2016
  • ...Souza-Pinto NC, Kowaltowski AJ (2015) Cardiolipin is a key determinant for mtDNA stability and segregation during mitochondrial stress. Biochim Biophys Acta ...mitochondrial lipid cardiolipin is a key determinant in the maintenance of mtDNA stability and segregation.
    2 KB (291 words) - 12:39, 2 August 2023
  • ...rgersen LH (2015) Impaired dynamics and function of mitochondria caused by mtDNA toxicity leads to heart failure. Am J Physiol Heart Circ Physiol 309:H434-4 ...a model with induced cardiac-restricted mtDNA damage for investigation of mtDNA-based heart disease.
    3 KB (337 words) - 12:09, 8 November 2016
  • ...atments. This mini-review gives a brief overview on the several aspects of mtDNA, with a particular focus on its role in tumorigenesis and progression of br
    2 KB (266 words) - 06:31, 8 October 2023
  • mitochondrial DNA (mtDNA) in several tissues and cell types with regard to different mitochondrial a Background: The mtDNA copy number can be reduced due to mutations in the
    3 KB (378 words) - 16:54, 9 November 2017
  • ..., however, there was no significant difference. These results suggest that mtDNA replication is affected by the mutation in a tissue-specific manner. Steady |area=mtDNA;mt-genetics
    3 KB (385 words) - 10:51, 3 June 2019
  • ...ciency alone or combined with increased oxidative stress does not increase mtDNA point mutations in mice. Nucleic Acids Res 46:6642-69. ...r results show that the importance of oxidative damage as a contributor of mtDNA mutations should be re-evaluated.
    2 KB (339 words) - 10:57, 30 July 2018
  • ...MS, Nevinitsyna TA, Kadyshev VV, Zakharova EY (2019) Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy. Mitochondrion 50:139- ...h has never been previously associated with LHON). NGS analysis of a whole mtDNA derived from patient's blood revealed a low mutation load (24%, 47%, 23% re
    2 KB (243 words) - 17:02, 16 March 2020
  • |abstract=Mitochondrial DNA (mtDNA) is damaged in the retina in diabetes, and mitochondria copy numbers are decreased. The displacement-loop (D-loop) of the mtDNA, the region with
    3 KB (345 words) - 12:08, 15 December 2015
  • ...ochondrial and heart function in Chagas disease: Effects on POLG dependent mtDNA maintenance. PLOS Pathog 14:e1007065. ...associated with a decline in Pol γ-dependent maintenance of mtDNA content, mtDNA-encoded gene expression, and mitochondrial respiratory function, and subseq
    3 KB (372 words) - 11:35, 27 July 2018
  • ...ment. Our findings thus link OMM fusion to replication and distribution of mtDNA. |area=Respiration, mt-Structure;fission;fusion, mtDNA;mt-genetics, Genetic knockout;overexpression
    2 KB (330 words) - 15:17, 17 June 2019
  • ...ple model in which climatic adaptation has been a major force during human mtDNA evolution. |area=mtDNA;mt-genetics, Comparative MiP;environmental MiP
    2 KB (261 words) - 10:03, 3 August 2015
  • Mitochondrial DNA (mtDNA) mutations and reactive oxygen species (ROS) production ...ansport may underlay the manifestations of premature aging observed in the mtDNA mutator mice.
    3 KB (378 words) - 16:01, 13 November 2017
  • ...Kunz WS (2002) Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. Hum Mol Genet 11:1797-805. ...n-permeabilized muscle fibers of the index patient containing ∼90% mutated mtDNA showed decreased maximal rates of respiration and an increased sensitivity
    2 KB (310 words) - 15:55, 24 March 2015
  • ...ndes V, Freitas F, Ammar El Gaaied AB, Pereira L (2009) Data from complete mtDNA sequencing of Tunisian centenarians: testing haplogroup association and the ...omplete mtDNA sequencing. This population has a mixed Eurasian/sub-Saharan mtDNA gene pool, which could potentially facilitate the evaluation of association
    2 KB (250 words) - 10:52, 25 March 2016
  • ...n CB, Capin G, Paetau A, Terzioglu M, Euro L, Suomalainen A (2018) Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy. Nat Commun 9:7 ...nance defects. Our evidence indicates that (1) astrocytes are dependent on mtDNA integrity; (2) mitochondrial metabolism contributes to their activation; (3
    2 KB (308 words) - 17:15, 16 February 2021
  • ...10320G>A) showed decreased mitochondrial functions, suggesting the role of mtDNA variations in DCM. |keywords=Cybrids, DCM, Haplogroups, Mitochondria, Mutations, mtDNA
    2 KB (234 words) - 15:21, 15 October 2019
  • proposed that mtDNA sequence variation contributes to disease of mtDNA polymorphisms, the MNX (mitochondrial–nuclear
    2 KB (343 words) - 16:31, 7 November 2016
  • ...s. We hypothesized that TBI would increase peripheral whole blood relative mtDNA copy number, and that these alterations would be associated with cerebral m ...values to nuclear 16S rRNA, for a relative mtDNA copy number. Three unique mtDNA regions were selected, and PCR primers were designed within those regions,
    3 KB (393 words) - 14:59, 28 March 2018
  • ...nance of respiratory chain function in mouse hearts with severely impaired mtDNA transcription. Nucleic Acids Res 38:6577–88. ...is sufficient and necessary for mtDNA transcription initiation. Abolished mtDNA transcription caused by tissue-specific knockout of TFAM in the mouse heart
    2 KB (305 words) - 16:34, 7 November 2016
  • Sayre syndrome harbouring large-scale deletions of mitchondrial DNA (mtDNA). In all patients combined deficiencies of respiratory chain enzymes contai activity ratios of these enzymes decreased linearly with increasing mtDNA heteroplasmy. This indicates the absence of any well-defined mutation thres
    2 KB (311 words) - 15:44, 19 February 2015
  • ...different phenotypic effects of these mild mtDNA variants demonstrate that mtDNA can be an important modulator of autosomal disease. ...mplex I, Complex IV, Mitochondrial DNA, Mitochondrial-nuclear interaction, mtDNA instability
    2 KB (334 words) - 12:21, 3 April 2019
  • ...rial disorders are phenotypically and genotypically heterogeneous. With 37 mtDNA genes and more than a thousand nuclear genes involved in mitochondrial func |area=mtDNA;mt-genetics, mt-Medicine, Patients
    2 KB (235 words) - 12:03, 10 February 2015
  • ...esner RJ, Samuels DC, Larsson NG, Chinnery PF (2012) Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transm ...next generation, consistent with purifying selection. High percentages of mtDNA genomes with the tRNA(Met) mutation were linked to a compensatory increase
    2 KB (280 words) - 17:59, 9 November 2017
  • ...ion of mutated genomes in each KSS patient ranged from 45% to 75% of total mtDNA. There was no correlation between the size or site of the deletion, biochem
    1 KB (173 words) - 16:20, 13 September 2023
  • ...heart would suggest that the primary biological consequence of accumulated mtDNA damage is accelerated electron leak driven by an increase in electron redox |area=Respiration, mtDNA;mt-genetics
    2 KB (319 words) - 11:29, 14 January 2019
  • ...nnedy SR, Whitworth AJ (2019) Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in ''Drosop ...ion mutations and the severe phenotypes make ''mito''-APOBEC1 an excellent mtDNA mutator model for ageing research.
    2 KB (299 words) - 16:36, 18 July 2022
  • ...s. This will require characterization of the abnormalities and dynamics of mtDNA changes propagated through sPD cybrids over time.
    2 KB (335 words) - 15:30, 22 August 2014
  • ...MFN2 mutations alter mitochondrial oxidative phosphorylation by affecting mtDNA replication. ...drial membrane fusion machinery, CMT2A patients, Azide, Mitochondrial DNA (mtDNA) copy numbers
    3 KB (400 words) - 12:18, 8 November 2016
  • ...talk between transcription and translation for the regulation of mammalian mtDNA gene expression. |area=Respiration, mt-Biogenesis;mt-density, mtDNA;mt-genetics, nDNA;cell genetics, Genetic knockout;overexpression
    2 KB (295 words) - 16:33, 13 November 2017
  • ...tramyocardial pyrimidine nucleotides, which in turn are building blocks of mtDNA. We investigated if NRTI-related cardiomyopathy can be prevented with pyrim ...xidase IV subunit. The myocardial formation of reactive oxygen species and mtDNA mutations was enhanced in zidovudine and zalcitabine treated animals. Mitoc
    2 KB (288 words) - 12:25, 14 October 2015
  • .... Comparative analysis of protist mtDNAs is providing a new perspective on mtDNA evolution: how the original mitochondrial genome was organized, what genes |area=mtDNA;mt-genetics, nDNA;cell genetics
    2 KB (354 words) - 19:44, 1 April 2023
  • ...rategy and molecular dating allowed us to detect the accumulation of local mtDNA diversity to 5,138 +/- 3,633 YBP. Similarly, the Y-chromosome gene pool rev |area=mtDNA;mt-genetics
    2 KB (253 words) - 17:46, 23 March 2016
  • ...out of Africa into Eurasia remains controversial. We evaluated the role of mtDNA variation in resting metabolic rate (RMR) and total energy expenditure (TEE |area=mtDNA;mt-genetics, Comparative MiP;environmental MiP
    1 KB (178 words) - 09:48, 3 August 2015
  • ...l cellular ATP and lactate levels. Finally, we also describe how to detect mtDNA variants in pluripotent and differentiating cells using next-generation seq |area=Respiration, Instruments;methods, mtDNA;mt-genetics
    2 KB (276 words) - 17:08, 9 November 2017
  • ...was normal but D-loop extension, which dictates the replication process of mtDNA, was decreased by 75% in the failing hearts. Furthermore, DNA oxidative dam ...verely impaired as evidenced by reduced mtDNA replication and depletion of mtDNA in the human failing heart. These defects are independent of the downregula
    2 KB (343 words) - 15:45, 26 May 2015
  • |topics=mtDNA
    356 bytes (43 words) - 17:41, 12 November 2013
  • ...ed Ant1-dependent cardiomyopathy on the different mtDNA backgrounds. On wt mtDNA background, the Ant1-/- mice developed a distinctive ...getic defects, sensitized mitochondrial permeability transition, increased mtDNA damage, and heart failure that ultimately attenuated the lifespan. Our resu
    3 KB (415 words) - 15:59, 4 September 2015
  • ...M, Szibor R, Wien F, Kunz WS, von Bossanyi P, Bajaj PK, Dietzmann K (1998) mtDNA depletion and impairment of mitochondrial function in a case of a multisyst ...ochondrial disorder caused by a decrease in the amount of intact wild-type mtDNA was responsible for the severe myopathy.
    2 KB (247 words) - 11:22, 23 February 2015
  • ...ect effect of NT-PGC-1α on mtDNA transcription. Moreover, this increase in mtDNA-encoded ETC gene expression was associated with enhanced respiration in NT- ...ssue metabolism, Gene expression, Mitochondrial respiratory chain complex, mtDNA, Peroxisome proliferator-activated receptor γ coactivator 1α (PGC-1α)
    3 KB (361 words) - 08:53, 27 June 2019
  • ...of the oxidative phosphorylation system (OXPHOS) and therefore pathogenic mtDNA mutations can lead to drastic energy deficiency disorders with typically pl ...st approach, proofreading-deficient DNA polymerase γ is utilized to mutate mtDNA and in the second approach, mitochondrial DNA repair is impaired to increas
    5 KB (712 words) - 11:06, 7 January 2019
  • ...f OXPHOS. In summary, we have demonstrated that the horizontal transfer of mtDNA from EVs acts as an oncogenic signal promoting an exit from dormancy of the |area=Respiration, mtDNA;mt-genetics
    2 KB (363 words) - 13:51, 16 August 2019
  • ...ar mechanisms. It also is unclear whether single-donor gDNA for generating mtDNA would be a preferred therapeutic compared with the pooled gDNA used in this
    3 KB (405 words) - 14:52, 13 November 2017
  • ...ation was found between mt-function and mtDNA copy number. A comparison of mtDNA sequence variations in BE and CA tissue revealed a significantly higher ove |area=Respiration, mtDNA;mt-genetics, Patients
    3 KB (356 words) - 18:40, 10 January 2022
  • ...nes, accounted for by the high hydrophobicity of the proteins coded by the mtDNA. Most of the predicted pathogenic variants in the nDNA genes were restricte |area=mtDNA;mt-genetics, nDNA;cell genetics
    2 KB (281 words) - 14:54, 23 March 2016
  • ...ocuses on the cause of mitochondrial disorder. The development of suitable mtDNA-based delivery systems to target and transfect mammalian mitochondria repre |area=mtDNA;mt-genetics
    2 KB (286 words) - 15:22, 5 October 2023
  • ...le which can be found in various copy numbers in a tissue specific manner. mtDNA encodes for 37 genes whith only 13 of them being polypeptides, all having f ...gy to compare nuclear gene expression induced by the complete depletion of mtDNA in cell lines of different origin.
    3 KB (471 words) - 16:00, 4 September 2015
  • ...urbances of OXPHOS may be caused by mutations in either mitochondrial DNA (mtDNA) or nuclear DNA. ...ntially from those described for other tissues. Furthermore, we found that mtDNA 9205ΔTA microdeletion in the ATP6 gene prevents the synthesis
    2 KB (363 words) - 09:41, 16 October 2017
  • ...a L (2015) Fine time scaling of purifying selection on human nonsynonymous mtDNA mutations based on the worldwide population tree and mother-child pairs. Hu ...dren transmissions, purifying selection was detectable through the loss of mtDNA variants with high predicted pathogenicity. A few haplogroup-defining sites
    2 KB (304 words) - 14:42, 23 March 2016
  • ...nnqvist T, Suomalainen A (2018) Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and po ...tual disability. Our findings expand the phenotypic spectrum and show that mtDNA mutations should be taken account also with milder, stable phenotypes.
    2 KB (212 words) - 09:20, 18 March 2020
  • ...I biochemical activity in brain mitochondria. Our results demonstrate that mtDNA mutations are not associated with cancer development in myh(-/-)/ogg1(-/-)
    2 KB (388 words) - 03:05, 1 March 2020
  • ...ects of mitochondrial metabolism. This study illustrates the importance of mtDNA changes on organelle evolution and highlights the potential bioenergetic an |area=Respiration, mtDNA;mt-genetics, Genetic knockout;overexpression, Comparative MiP;environmental
    2 KB (283 words) - 11:04, 23 June 2022
  • ...(HIV) infection and antiretroviral therapy (ART) affect mitochondrial DNA (mtDNA) content and function, comprehensive evaluations of their effects on mitoch ...38+ /HLA-DR+) for CD4+ and CD8+ lymphocytes. No significant differences in mtDNA content were noted in muscle or PMBCs among groups. Exploratory DNA microar
    2 KB (325 words) - 15:13, 23 February 2020
  • ...and platelets mitochondrial dysfunction, oxidative stress, and circulating mtDNA in cardiovascular diseases. J Clin Med 9 pii:E311. ...nd platelets' mitochondrial dysfunction, oxidative stress, and circulating mtDNA as biomarkers of CVD diagnosis and prognosis. This new approach might also
    2 KB (328 words) - 20:19, 7 March 2020
  • (iii) mutations of somatic mtDNA accumulate during aging; (iv) a vicious cycle occurs of increased ROS production caused by mtDNA mutations and degenerated mt-function, and due to ROS-induced ROS productio
    953 bytes (128 words) - 13:08, 10 September 2013
  • ...vely harboring G11778A and T8993G mutant mtDNA by >90%, with healthy donor mtDNA complexed with recombinant human mitochondrial transcription factor A (rhTF |keywords=TFAM, mtDNA, Leigh’s syndrome, LHON disease, Mitochondrial respiration, Biogenesis, T
    2 KB (292 words) - 03:51, 23 November 2021
  • ...fficacy. These results suggest pathophysiological processes for overcoming mtDNA damage and support the notion of high plasticity of malignant cells. ...: Aggression and mitochondrial fitness taken from a friend: acquisition of mtDNA from host cells. »[[K-Regio_MitoFit#2015 |MitoFit news]]
    3 KB (418 words) - 06:50, 20 April 2020
  • ...found that the loss of cardiolipin specifically affects the segregation of mtDNA to daughter cells, leading to a respiratory deficient phenotype after repli ...mitochondrial lipid cardiolipin is a key determinant in the maintenance of mtDNA stability, morphology and segregation.
    2 KB (295 words) - 12:00, 16 June 2015
  • ...d only in yeast. Together, it suggests that Var1 physically interacts with mtDNA and under stress negatively regulates its maintenance [1]. |area=mtDNA;mt-genetics, Genetic knockout;overexpression
    3 KB (365 words) - 11:23, 28 April 2017
  • ...contribute to the genetic component of complex disorders. The existence of mtDNA-based OXPHOS differences opens possibilities for the existence of a new fie |area=Respiration, mtDNA;mt-genetics, mt-Medicine
    3 KB (352 words) - 14:23, 13 November 2017
  • ...ations which eventually lead to cellular bioenergetics failure. Therefore, mtDNA quality and quantity is under tight control of multiple independent pathway ...outinely used for cancer treatment and are known to preferentially bind to mtDNA [1].
    3 KB (472 words) - 16:37, 13 November 2017

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