Mitochondrial DNA mutations and human disease

Tuppen, Helen A.L., Blakely, Emma L., Turnbull, Douglass M., Taylor, Robert W.·2010·Biochimica et Biophysica Acta (BBA) - Bioenergetics

Cited by (682)

Items 101–200 of 682

  1. Mutations in NDUFS1 Cause Metabolic Reprogramming and Disruption of the Electron Transfer
    Yang Ni, Muhammad A. Hagras, Vassiliki Konstantopoulou, Johannes A. Mayr, Alexei A. Stuchebrukhov, David Meierhofer · 2019 · Cells
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  3. Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
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  5. Mitochondrial Abnormality Associates with Type-Specific Neuronal Loss and Cell Morphology Changes in the Pedunculopontine Nucleus in Parkinson Disease
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  7. DNA polymerase β: A missing link of the base excision repair machinery in mammalian mitochondria
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    Christine Tranchant, Mathieu Anheim · 2016 · Revue Neurologique
  10. Mitochondrial targeting as a novel therapy for stroke
    CesarV Borlongan, Eleonora Russo, Hung Nguyen, Trenton Lippert, Julian P. Tuazon, Eleonora Napoli · 2018 · Brain Circulation
  11. Strand-preferred base editing of organellar and nuclear genomes using CyDENT
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  12. Mitochondrial DNA: Inherent Complexities Relevant to Genetic Analyses
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  13. Mitochondrially-targeted treatment strategies
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  14. Dietary Mitophagy Enhancer: A Strategy for Healthy Brain Aging?
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  15. mtDNA Heteroplasmy at the Core of Aging-Associated Heart Failure. An Integrative View of OXPHOS and Mitochondrial Life Cycle in Cardiac Mitochondrial Physiology
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  16. Antidiabetic drug metformin disrupts the embryogenesis in zebrafish through an oxidative stress mechanism
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  17. Bedaquiline inhibits the yeast and human mitochondrial ATP synthases
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  18. Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency
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  19. Oxidative stress and antioxidant treatment in patients with peripheral artery disease
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  20. The nuclear sirtuin SIRT6 protects the heart from developing aging-associated myocyte senescence and cardiac hypertrophy
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  21. Effect of mtDNA point mutations on cellular bioenergetics
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  23. A Mitocentric View of Alzheimer’s Disease
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  24. Targeting Mitochondria to Counteract Age-Related Cellular Dysfunction
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  25. Safeguarding mitochondrial genomes in higher eukaryotes
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  26. PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations
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  27. Mitochondrial–nuclear co‐evolution leads to hybrid incompatibility through pentatricopeptide repeat proteins
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  28. Pearson syndrome
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  29. Human mitochondrial transcription factor A is required for the segregation of mitochondrial DNA in cultured cells
    Kasashima, Katsumi, Sumitani, Megumi, Endo, Hitoshi · 2011 · Experimental Cell Research
  30. Mitochondrial Transfer from Wharton’s Jelly Mesenchymal Stem Cell to MERRF Cybrid Reduces Oxidative Stress and Improves Mitochondrial Bioenergetics
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  31. Recent Advances in Mitochondria-Targeted Gene Delivery
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  32. The secret messages between mitochondria and nucleus in muscle cell biology
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  33. Energy substrate metabolism and oxidative stress in metabolic cardiomyopathy
    Ze Chen, Zhaoxia Jin, Jingjing Cai, Ruyan Li, Ke‐Qiong Deng, Yan‐Xiao Ji, Fang Lei, Huoping Li, Zhibing Lu, Hongliang Li · 2022 · Journal of Molecular Medicine
  34. NGS-based profiling reveals a critical contributing role of somatic D-loop mtDNA mutations in HBV-related hepatocarcinogenesis
    Chun Yin, Deyang Li, Xu Guo, Haiyan Cao, Y.B. Chen, Feng Zhou, N.J. Ge, Y. Liu, Shanshan Guo, Z. Zhao et al. · 2019 · Annals of Oncology
  35. MLH1 deficiency leads to deregulated mitochondrial metabolism
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  36. Cellular mechanisms of mtDNA heteroplasmy dynamics
    Cláudia V. Pereira, Bryan L. Gitschlag, Maulik R Patel · 2021 · Critical Reviews in Biochemistry and Molecular Biology
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  38. The Red Queen in mitochondria: cyto-nuclear co-evolution, hybrid breakdown and human disease
    Jui‐Yu Chou, Jun‐Yi Leu · 2015 · Frontiers in Genetics
  39. A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia
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    B.C. van Beers, Dickenson, Donna, Sterckx, Sigrid · 2018 · Cambridge University Press eBooks
  42. Mitochondrial DNA Copy Number and Risk of Gastric Cancer: a Report from the Shanghai Women's Health Study
    Linda M. Liao, Andrea Baccarelli, Xiao‐Ou Shu et al. · 2011 · Cancer Epidemiology Biomarkers & Prevention
  43. Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
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  44. Mitochondria DNA copy number, mitochondria DNA total somatic deletions, Complex I activity, synapse number, and synaptic mitochondria number are altered in schizophrenia and bipolar disorder
    Sujan Chandra Das, Brooke E. Hjelm, Brandi L. Rollins, Adolfo Sequeira, Ling Morgan, Audrey A. Omidsalar, Alan F. Schatzberg, Jack D. Barchas, Francis S. Lee, R Myers et al. · 2022 · Translational Psychiatry
  45. Metabolic reprogramming of mitochondrial respiration in metastatic cancer
    Patries M. Herst, Carole Grasso, Michael V. Berridge · 2018 · Cancer and Metastasis Reviews
  46. Nε-(carboxymethyl) lysine-induced mitochondrial fission and mitophagy cause decreased insulin secretion from β-cells
    Mei-Chen Lo, Ming‐Hong Chen, Wen‐Sen Lee, Chin-I Lu, Chuang‐Rung Chang, Shu‐Huei Kao, Horng-Mo Lee · 2015 · American Journal of Physiology-Endocrinology and Metabolism
  47. Validation of a HTS-amenable assay to detect drug-induced mitochondrial toxicity in the absence and presence of cell death
    Rachel L. Swiss, Andrew L. Niles, James J. Cali, Sashi Nadanaciva, Yvonne Will · 2013 · Toxicology in Vitro
  48. Mitochondria in Chronic Obstructive Pulmonary Disease and Lung Cancer: Where are We Now?
    Hae-Seong Nam, Evgeny Izumchenko, Santanu Dasgupta, Mohammad Obaidul Hoque · 2017 · Biomarkers in Medicine
  49. The nanomedicine rush: New strategies for unmet medical needs based on innovative nano DDS
    Yusuke Sato, Takashi Nakamura, Yuma Yamada, Hideyoshi Harashima · 2020 · Journal of Controlled Release
  50. Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila
    Simonetta Andreazza, Colby L. Samstag, Álvaro Sánchez-Martínez, Erika Fernández‐Vizarra, Aurora Gómez-Durán, Juliette J. Lee, Roberta Tufi, Michael J. Hipp, Elizabeth K. Schmidt, Thomas J. J. Nicholls et al. · 2019 · Nature Communications
  51. A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data
    Stephanie L. Battle, Daniela Puiu, TOPMed mtDNA Working Group, Joost Verlouw, Linda Broer, Eric Boerwinkle, Kent D. Taylor, Jerome I. Rotter, S.S Rich, Megan L. Grove et al. · 2022 · NAR Genomics and Bioinformatics
  52. Mitochondrial diseases and the role of the yeast models
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  53. Biogenetic and morphofunctional heterogeneity of mitochondria: the case of synaptic mitochondria
    Sergei V. Fedorovich, Tatyana V. Waseem, Ludmila V. Puchkova · 2017 · Reviews in the Neurosciences
  54. Mesenchymal Stromal Cell-Derived Extracellular Vesicles Regulate the Mitochondrial Metabolism via Transfer of miRNAs
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  55. Mitochondrial protein dysfunction in pathogenesis of neurological diseases
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  56. Chromatin Regulation of DNA Damage Repair and Genome Integrity in the Central Nervous System
    Ling Pan, Jay Penney, Li‐Huei Tsai · 2014 · Journal of Molecular Biology
  57. The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes
    Anna Maria Ghelli, Concetta Valentina Tropeano, Maria Antonietta Calvaruso, Alessandra Marchesini, Luisa Iommarini, Anna Maria Porcelli, Claudia Zanna, Vera De Nardo, Andrea Martinuzzi, Flemming Wibrand et al. · 2013 · Human Molecular Genetics
  58. Transfection of plant mitochondria and in organello gene integration
    Daria Mileshina, Milana V. Koulintchenko, Yu. M. Konstantinov, André Dietrich · 2011 · Nucleic Acids Research
  59. Advances in methods for reducing mitochondrial DNA disease by replacing or manipulating the mitochondrial genome
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  60. Biolayer Interferometry: A Novel Method to Elucidate Protein–Protein and Protein–DNA Interactions in the Mitochondrial DNA Replisome
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  61. Mitonuclear linkage disequilibrium in human populations
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  62. Mitochondrial DNA Dynamics in Reprogramming to Pluripotency
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  63. The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease
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  64. Sorting of mitochondrial and plastid heteroplasmy in Arabidopsis is extremely rapid and depends on MSH1 activity
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  66. The power of yeast to model diseases of the powerhouse of the cell
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  67. Innovative nanotechnologies for enhancing nucleic acids/gene therapy: Controlling intracellular trafficking to targeted biodistribution
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  68. Myopathology of Adult and Paediatric Mitochondrial Diseases
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  69. The landscape of mitochondrial small non-coding RNAs in the PGCs of male mice, spermatogonia, gametes and in zygotes
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  70. Mitochondrial maturation drives germline stem cell differentiation in Caenorhabditis elegans
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  71. Maintenance of mitochondrial genome distribution by mitochondrial AAA+ protein ClpX
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  72. Reversible infantile mitochondrial diseases
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  79. A Novel Next-Generation Sequencing–Based Approach for Concurrent Detection of Mitochondrial DNA Copy Number and Mutation
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  81. Multifunctional Envelope-Type Nano Device (MEND) for Organelle Targeting Via a Stepwise Membrane Fusion Process
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  88. Genetic background influences mitochondrial function: modeling mitochondrial disease for therapeutic development
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  100. Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders
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