Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases

DeBalsi, Karen L., Hoff, Kirsten E., Copeland, William C.·2017·Ageing Research Reviews

Cites (276)

Items 201–273 of 273

  1. Overexpression of Tfam protects mitochondria against β‐amyloid‐induced oxidative damage in SH‐SY5Y cells
    Shangcheng Xu, Min Zhong, Lei Zhang, Yuan Wang, Zhou Zhou, Yutong Hao, Wenyan Zhang, Xuesen Yang, Aimin Wei, Liping Pei et al. · 2009 · FEBS Journal
  2. Mosaic deficiency in mitochondrial oxidative metabolism promotes cardiac arrhythmia during aging
    Baris, Olivier R., Ederer, Stefan, Neuhaus, Johannes F.G., von Kleist-Retzow, Jürgen-Christoph, Wunderlich, Claudia M., Pal, Martin, Wunderlich, F. Thomas, Peeva, Viktoriya, Zsurka, Gabor, Kunz, Wolfram S. et al. · 2015 · Cell Metabolism
  3. Mutation of the Linker Region of the Polymerase γ-1 (POLG1Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism
    Gavin Hudson, Andrew M. Schaefer, Robert William Taylor, Watcharee Tiangyou, Andrew Gibson, Graham S Venables, Philip G. Griffiths, David John Burn, Douglass M. Turnbull, Patrick Francis Chinnery · 2007 · Archives of Neurology
  4. Enhanced catabolism of mitochondrial superoxide/hydrogen peroxide and aging in transgenic <i>Drosophila</i>
    Bayne, Anne-Cécile V., Mockett, Robin J., Orr, William C., Sohal, Rajindar S. · 2005 · Biochemical Journal
  5. The Pleiotropic Effect of Physical Exercise on Mitochondrial Dynamics in Aging Skeletal Muscle
    Elena Barbieri, Deborah Agostini, Emanuela Polidori, Lucia Potenza, Michele Guescini, Francesco Lucertini, Giosuè Annibalini, Laura Stocchi, Mauro De Santi, Vilberto Stocchi · 2015 · Oxidative Medicine and Cellular Longevity
  6. Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease
    Nicholls, Thomas J., Zsurka, Gábor, Peeva, Viktoriya, Schöler, Susanne, Szczesny, Roman J., Cysewski, Dominik, Reyes, Aurelio, Kornblum, Cornelia, Sciacco, Monica, Moggio, Maurizio et al. · 2014 · Human Molecular Genetics
  7. Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance
    Humble, Margaret M., Young, Matthew J., Foley, Julie F., Pandiri, Arun R., Travlos, Greg S., Copeland, William C. · 2013 · Human Molecular Genetics
  8. Mitochondrial function and mitochondrial DNA maintenance with advancing age
    Gaziev, Azhub I., Abdullaev, Serzh, Podlutsky, Andrej · 2014 · Biogerontology
  9. Alterations in mitochondrial function and cytosolic calcium induced by hyperglycemia are restored by mitochondrial transcription factor A in cardiomyocytes
    Suarez, Jorge, Hu, Yong, Makino, Ayako, Fricovsky, Eduardo, Wang, Hong, Dillmann, Wolfgang H. · 2008 · American Journal of Physiology-Cell Physiology
  10. Somatic mtDNA variation is an important component of Parkinson's disease
    Jonathan M Coxhead, Marzena Kurzawa‐Akanbi, Rafiqul Hussain, Angela Pyle, Patrick Francis Chinnery, Gavin Hudson · 2015 · Neurobiology of Aging
  11. Mitochondrial Nucleoid and Transcription Factor A
    Tomotake Kanki, Hiroshi Nakayama, Narie Sasaki, Koji Takio, Tanfis I. Alam, Naotaka Hamasaki, Dongchon Kang · 2004 · Springer eBooks
  12. p53 is necessary for the adaptive changes in cellular milieu subsequent to an acute bout of endurance exercise
    Ayesha Saleem, Heather N. Carter, David Albert Hood · 2013 · American Journal of Physiology-Cell Physiology
  13. Mitochondrial nucleoid and transcription factor A
    KANKI, TOMOTAKE, NAKAYAMA, HIROSHI, SASAKI, NARIE, TAKIO, KOJI, ALAM, TANFIS ISTIAQ, HAMASAKI, NAOTAKA, KANG, DONGCHON · 2004 · Annals of the New York Academy of Sciences
  14. Structure–Function Defects of the TWINKLE Linker Region in Progressive External Ophthalmoplegia
    Jenny A. Korhonen, Vineet Pande, Teresa Holmlund, Géraldine Farge, Xuan Hoi Pham, Lennart Nilsson, Maria Falkenberg · 2008 · Journal of Molecular Biology
  15. Targeted enrichment and high‐resolution digital profiling of mitochondrial <scp>DNA</scp> deletions in human brain
    Taylor, Sean D., Ericson, Nolan G., Burton, Joshua N., Prolla, Tomas A., Silber, John R., Shendure, Jay, Bielas, Jason H. · 2014 · Aging Cell
  16. Biochemical analysis of human POLG2 variants associated with mitochondrial disease
    Young, Matthew J., Longley, Matthew J., Li, Fang-Yuan, Kasiviswanathan, Rajesh, Wong, Lee-Jun, Copeland, William C. · 2011 · Human Molecular Genetics
  17. Human mitochondrial DNA helicase TWINKLE is both an unwinding and annealing helicase
    Sen, Doyel, Nandakumar, Divya, Tang, Guo-Qing, Patel, Smita S. · 2012 · Journal of Biological Chemistry
  18. The accessory subunit B of DNA polymerase is required for mitochondrial replisome function
    Farge, G., Pham, X. H., Holmlund, T., Khorostov, I., Falkenberg, M. · 2007 · Nucleic Acids Research
  19. Extension of mouse lifespan by overexpression of catalase
    Samuel E. Schriner, Nancy J. Linford · 2006 · AGE
  20. The mtDNA mutator mouse: Dissecting mitochondrial involvement in aging
    Daniel Edgar, Aleksandra Trifunović · 2009 · Aging
  21. Autosomal dominant progressive external ophthalmoplegia: Distribution of multiple mitochondrial DNA deletions
    Moslemi, Ali-Reza, Melberg, Atle, Holme, Elisabeth, Oldfors, Anders · 1999 · Neurology
  22. Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease
    Gui, Ya-Xing, Xu, Zhong-Ping, Lv, Wen, Zhao, Jin-Jia, Hu, Xing-Yue · 2015 · Parkinsonism &amp; Related Disorders
  23. Mitochondrial DNA shifting in older adults following resistance exercise trainingThis paper article is one of a selection of papers published in this Special Issue, entitled 14th International Biochemistry of Exercise Conference – Muscles as Molecular and Metabolic Machines, and has undergone the Journal’s usual peer review process.
    Tarnopolsky, M. A. · 2009 · Applied Physiology Nutrition and Metabolism
  24. Recombinant mitochondrial transcription factor A with N-terminal mitochondrial transduction domain increases respiration and mitochondrial gene expression
    Shilpa Iyer, Ravindar R. Thomas, Francisco R. Portell, Lisa D. Dunham, Caitlin K. Quigley, James P. Bennett · 2009 · Mitochondrion
  25. Involvement of Redox State in the Aging of <i>Drosophila melanogaster</i>
    Orr, William C., Radyuk, Svetlana N., Sohal, Rajindar S. · 2013 · Antioxidants &amp; Redox Signaling
  26. Human RNase H1 Is Associated with Protein P32 and Is Involved in Mitochondrial Pre-rRNA Processing
    Hongjiang Wu, Hong Sun, Xue‐hai Liang, Walt F. Lima, Stanley T. Crooke · 2013 · PLoS ONE
  27. Progressive External Ophthalmoplegia Characterized by Multiple Deletions of Mitochondrial DNA: Unraveling the Pathogenesis of Human Mitochondrial DNA Instability and the Initiation of a Genetic Classification
    Gert Van Goethem, Jean‐Jacques Martin, Christine Van Broeckhoven · 2003 · NeuroMolecular Medicine
  28. The systems biology of mitochondrial fission and fusion and implications for disease and aging
    Chauhan, Anuradha, Vera, Julio, Wolkenhauer, Olaf · 2014 · Biogerontology
  29. Disease Variants of the Human Mitochondrial DNA Helicase Encoded by C10orf2 Differentially Alter Protein Stability, Nucleotide Hydrolysis, and Helicase Activity
    Matthew J. Longley, Margaret M. Humble, Farida S. Sharief, William C. Copeland · 2010 · Journal of Biological Chemistry
  30. Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy number
    Pohjoismäki, Jaakko L. O., Goffart, Steffi, Taylor, Robert W., Turnbull, Douglas M., Suomalainen, Anu, Jacobs, Howard T., Karhunen, Pekka J. · 2010 · PLoS ONE
  31. Mitochondrial functional complementation in mitochondrial DNA-based diseases
    Kazuto Nakada, Akitsugu Sato, Jun‐Ichi Hayashi · 2009 · The International Journal of Biochemistry & Cell Biology
  32. POLG1 in idiopathic Parkinson disease
    Tiangyou, W., Hudson, G., Ghezzi, D., Ferrari, G., Zeviani, M., Burn, D. J., Chinnery, P. F. · 2006 · Neurology
  33. Development of Mitochondrial Gene Replacement Therapy
    Shaharyar M. Khan, James P. Bennett · 2004 · Journal of Bioenergetics and Biomembranes
  34. Mitochondrial DNA mutations activate programmed cell survival in the mouse heart
    Zhang, Dekui, Mott, Justin L., Chang, Shin-Wen, Stevens, Melissa, Mikolajczak, Peter, Zassenhaus, H. Peter · 2005 · American Journal of Physiology-Heart and Circulatory Physiology
  35. Association study of two genetic variants in mitochondrial transcription factor A (TFAM) in Alzheimer's and Parkinson's disease
    Belin, Andrea Carmine, Björk, Behnosh F., Westerlund, Marie, Galter, Dagmar, Sydow, Olof, Lind, Charlotta, Pernold, Karin, Rosvall, Lina, Håkansson, Anna, Winblad, Bengt et al. · 2007 · Neuroscience Letters
  36. Mitochondrial dynamics in aging and disease
    Bereiter-Hahn, Jürgen · 2014 · Progress in molecular biology and translational science
  37. Short- and long-term effects of endurance training in patients with mitochondrial myopathy
    Jeppesen, T. D., Dunø, M., Schwartz, M., Krag, T., Rafiq, J., Wibrand, F., Vissing, J. · 2009 · European Journal of Neurology
  38. Over-expression of Tfam improves the mitochondrial disease phenotypes in a mouse model system
    Nishiyama, Satoshi, Shitara, Hiroshi, Nakada, Kazuto, Ono, Tomio, Sato, Akitsugu, Suzuki, Hidenori, Ogawa, Tetsuhiro, Masaki, Haruhiko, Hayashi, Jun-Ichi, Yonekawa, Hiromichi · 2010 · Biochemical and Biophysical Research Communications
  39. Identification of a novel human mitochondrial endo-/exonuclease Ddk1/c20orf72 necessary for maintenance of proper 7S DNA levels
    Roman J. Szczęsny, Monika S. Hejnowicz, Kamil Steczkiewicz, Anna Muszewska, Lukasz S. Borowski, Krzysztof Ginalski, Andrzej Dziembowski · 2013 · Nucleic Acids Research
  40. Overexpression of twinkle-helicase protects cardiomyocytes from genotoxic stress caused by reactive oxygen species
    Pohjoismäki, Jaakko L. O., Williams, Siôn L., Boettger, Thomas, Goffart, Steffi, Kim, Johnny, Suomalainen, Anu, Moraes, Carlos T., Braun, Thomas · 2013 · Proceedings of the National Academy of Sciences
  41. Measurement of the 4,834‐bp Mitochondrial DNA Deletion Level in Aging Rat Liver and Brain Subjected or Not to Caloric Restriction Diet
    Pierluigi Cassano, Angela Maria Serena Lezza, Christiaan Leeuwenburgh · 2004 · Annals of the New York Academy of Sciences
  42. Differential Phenotypes of Active Site and Human Autosomal Dominant Progressive External Ophthalmoplegia Mutations in Drosophila Mitochondrial DNA Helicase Expressed in Schneider Cells
    Yuichi Matsushima, Laurie S. Kaguni · 2007 · Journal of Biological Chemistry
  43. Do mtDNA deletions drive premature aging in mtDNA mutator mice?
    Kraytsberg, Yevgenya, Simon, David K., Turnbull, Douglas M., Khrapko, Konstantin · 2009 · Aging Cell
  44. Structure–function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia
    Teresa Holmlund, Géraldine Farge, Vineet Pande, Jenny A. Korhonen, Lennart Nilsson, Maria Falkenberg · 2008 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
  45. Analysis of the trinucleotide CAG repeat from the DNA polymerase γ gene (POLG) in patients with Parkinson's disease
    Jan‐Willem Taanman, Anthony H.V. Schapira · 2004 · Neuroscience Letters
  46. Involvement of DNA ligase III and ribonuclease H1 in mitochondrial DNA replication in cultured human cells
    Ruhanen, Heini, Ushakov, Kathy, Yasukawa, Takehiro · 2011 · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
  47. Somatic mtDNA mutations and aging – Facts and fancies
    Alexandra Kukat, Aleksandra Trifunović · 2008 · Experimental Gerontology
  48. Mutant Twinkle increases dopaminergic neurodegeneration, mtDNA deletions and modulates Parkin expression
    Lanying Song, Yuxi Shan, K. C. Kent Lloyd, Gino A. Cortopassi · 2012 · Human Molecular Genetics
  49. Lack of the DNA glycosylases MYH and OGG1 in the cancer prone double mutant mouse does not increase mitochondrial DNA mutagenesis
    Halsne, Ruth, Esbensen, Ying, Wang, Wei, Scheffler, Katja, Suganthan, Rajikala, Bjørås, Magnar, Eide, Lars · 2012 · DNA repair
  50. Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene
    Anne Marja Remes, Reetta Hinttala, Mikko Kärppä, Heidi K. Soini, R. Takalo, Johanna Uusimaa, Kari Majamaa · 2008 · Parkinsonism & Related Disorders
  51. On the timing and the extent of clonal expansion of mtDNA deletions: Evidence from single-molecule PCR
    Alexander Nicholas, Yevgenya Kraytsberg, Xinhong Guo, Konstantin Khrapko · 2009 · Experimental Neurology
  52. Effect of time of restriction on the decrease in mitochondrial H<sub>2</sub>O<sub>2</sub> production and oxidative DNA damage in the heart of food‐restricted rats
    Gredilla, R., López‐Torres, M., Barja, G. · 2002 · Microscopy Research and Technique
  53. Mitochondrial DNA deletions in muscle satellite cells: implications for therapies
    Sally Spendiff, Mojgan Reza, Julie L. Murphy, Gráinne S. Gorman, Emma L. Blakely, Robert William Taylor, Rita Horváth, Georgia Campbell, Jane H. Newman, Hanns Lochmüller et al. · 2013 · Human Molecular Genetics
  54. Levels of DNA damage are unaltered in mice overexpressing human catalase in nuclei
    Schriner, Samuel E, Ogburn, Charles E, Smith, Annette C, Newcomb, Terry G, Ladiges, Warren C, Dollé, Martijn E.T, Vijg, Jan, Fukuchi, Ken-Ichiro, Martin, George M · 2000 · Free Radical Biology and Medicine
  55. Mitochondrial transcription factor A (TFAM) gene variation in Parkinson's disease
    Victoria Álvarez, Ana I. Corao, Elena Sánchez-Ferrero, Lorena de Mena, Cristina Alonso‐Montes, Cecilia Huerta, Marta Blázquez Estrada, René Ribacoba, Luis M. Guisasola, Carlos Salvador et al. · 2008 · Neuroscience Letters
  56. Drosophila RNase H1 is essential for development but not for proliferation
    Valery A. Filippov, M. Filippova, S. Gill · 2001 · Molecular Genetics and Genomics
  57. <i>POLG2</i>disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity
    Young, Matthew J., Humble, Margaret M., DeBalsi, Karen L., Sun, Kathie Y., Copeland, William C. · 2015 · Human Molecular Genetics
  58. The timing of mitochondrial DNA mutations in aging
    Konstantin Khrapko · 2011 · Nature Genetics
  59. Overview of Parkinson's Disease
    Roger C. Duvoisin · 1992 · Annals of the New York Academy of Sciences
  60. Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects
    Sanchez-Martinez, Alvaro, Calleja, Manuel, Peralta, Susana, Matsushima, Yuichi, Hernandez-Sierra, Rosana, Whitworth, Alexander J., Kaguni, Laurie S., Garesse, Rafael · 2012 · PLoS ONE
  61. Physiological and Biochemical Defects in Carboxyl-terminal Mutants of Mitochondrial DNA Helicase
    Yuichi Matsushima, Carol L. Farr, Li Fan, Laurie S. Kaguni · 2008 · Journal of Biological Chemistry
  62. A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits
    Craig, Kate, Young, Matthew J., Blakely, Emma L., Longley, Matthew J., Turnbull, Douglass M., Copeland, William C., Taylor, Robert W. · 2012 · Mitochondrion
  63. When man got his mt DNA deletions?
    Konstantin Yu. Popadin, Adeel Safdar, Yevgenya Kraytsberg, Konstantin Khrapko · 2014 · Aging Cell
  64. The overexpression of twinkle helicase ameliorates the progression of cardiac fibrosis and heart failure in pressure overload model in mice
    Tanaka, Atsushi, Ide, Tomomi, Fujino, Takeo, Onitsuka, Ken, Ikeda, Masataka, Takehara, Takako, Hata, Yuko, Ylikallio, Emil, Tyynismaa, Henna, Suomalainen, Anu et al. · 2013 · PLoS ONE
  65. Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients
    Brandon R. Barton, Nico J. Diederich, Madhu Soni, Katrin Witte, Manja Weinhold, Micaela Krause, Sandra Jackson · 2013 · Journal of Neurology
  66. The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review
    Carmela Scuderi, Eugenia Borgione, Filippa Ida Castello et al. · 2015 · Neuromuscular Disorders
  67. Polymerase subunit gamma 2 affects porcine oocyte maturation and subsequent embryonic development
    Lee, Seul-Ki, Zhao, Ming-Hui, Zheng, Zhong, Kwon, Jung-Woo, Liang, Shuang, Kim, Seon-Hyang, Kim, Nam-Hyung, Cui, Xiang-Shun · 2015 · Theriogenology
  68. On Mitochondria, Mutations, and Methodology
    Marc Vermulst, Jonathan Wanagat, Lawrence A. Loeb · 2009 · Cell Metabolism
  69. Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma gene
    Manuel Delgado‐Alvarado, Patricia de la Riva, Haritz Jiménez‐Urbieta, Belén Gago, Alazne Gabilondo, Belén Bornstein, María Rodríguez‐Oroz · 2015 · Journal of the Neurological Sciences
  70. Selective mtDNA mutation accumulation results in β-cell apoptosis and diabetes development
    Kenneth Gregory Bensch, Justin L. Mott, Shin-Wen Chang, Polly A. Hansen, Michael A. Moxley, Kari T. Chambers, Wieke Freudenburg-de Graaf, Hans Peter Zassenhaus, John A. Corbett · 2009 · American Journal of Physiology-Endocrinology and Metabolism
  71. Variations of mitochondrial DNA polymerase γ in patients with Parkinson’s disease
    Susanna Ylönen, Pauli Ylikotila, Ari Siitonen, Saara Finnilä, Jaana M. Autere, Kari Majamaa · 2013 · Journal of Neurology
  72. Where and When Do Somatic mtDNA Mutations Occur?
    Konstantin Khrapko, Konstantin K. Ebralidse, Yevgenya Kraytsberg · 2004 · Annals of the New York Academy of Sciences
  73. A transgenic model to study the pathogenesis of somatic mtDNA mutation accumulation in β‐cells
    Bensch, K. G., DeGraaf, W., Hansen, P. A., Zassenhaus, H. P., Corbett, J. A. · 2007 · Diabetes Obesity and Metabolism