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

Spelbrink, Johannes N., Li, Fang-Yuan, Tiranti, Valeria, Nikali, Kaisu, Yuan, Qiu-Ping, Tariq, Muhammed, Wanrooij, Sjoerd, Garrido, Nuria +13 more·2001·Nature Genetics

Cited by (884)

Items 201–300 of 884

  1. A history of mitochondrial diseases
    Salvatore DiMauro · 2010 · Journal of Inherited Metabolic Disease
  2. Replication factors transiently associate with mtDNA at the mitochondrial inner membrane to facilitate replication
    Nina K.M. Rajala, Joachim Matthias Gerhold, P. Martinsson, Alexey Klymov, Johannes N. Spelbrink · 2013 · Nucleic Acids Research
  3. Localisation of the human hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNA
    Michal A. Minczuk · 2002 · Nucleic Acids Research
  4. Mechanism of Homologous Recombination and Implications for Aging-Related Deletions in Mitochondrial DNA
    Xin Jie Chen · 2013 · Microbiology and Molecular Biology Reviews
  5. History of DNA Helicases
    Robert M. Brosh, Steven W. Matson · 2020 · Genes
  6. The plastidic DNA replication enzyme complex of Plasmodium falciparum
    Fiona Seow, Shigeharu Sato, Christoph S. Janssen, Mathis O. Riehle, Arunima Mukhopadhyay, R. STEPHEN PHILLIPS, Robert J. Wilson, Michael Peter Barrett · 2005 · Molecular and Biochemical Parasitology
  7. Phosphorylated BRCA1 Is Predominantly Located in the Nucleus and Mitochondria
    Elisabeth D. Coene, Michael S. Hollinshead, Anouk Waeytens, Vera Schelfhout, W. Eechaute, Michael K. Shaw, Patrick M.V. Van Oostveldt, David J. Vaux · 2004 · Molecular Biology of the Cell
  8. Adenine Nucleotide Translocase, Mitochondrial Stress, and Degenerative Cell Death
    Yaxin Liu, Xin Jie Chen · 2013 · Oxidative Medicine and Cellular Longevity
  9. Mitochondrial disorders: Challenges in diagnosis & treatment
    Kumarasamy Thangaraj K, NahidAkhtar Khan, Periyasamy Govindaraj, AngamuthuKannan Meena · 2015 · The Indian Journal of Medical Research
  10. Genetics of mitochondrial dysfunction and infertility
    Leigh A. M. Demain, Gerard S. Conway, William G. Newman · 2016 · Clinical Genetics
  11. Mitochondrial DNA determines androgen dependence in prostate cancer cell lines
    Masahiro Higuchi, T Kudo, Seigo Suzuki, Teresa T. Evans, Ryohei Sasaki, Y Wada, Toshiro Shirakawa, Jeffrey R. Sawyer, Akinobu Gotoh · 2005 · Oncogene
  12. Ataxia
    Umar Akbar, Tetsuo Ashizawa · 2014 · Neurologic Clinics
  13. Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase–deficient renal cancer
    Daniel R. Crooks, Nunziata Maio, Martin Lang, Christopher J. Ricketts, Cathy D. Vocke, Sandeep Gurram, Sevilay Turan, Yunyoung Kim, Geetha Mariah Cawthon, Ferri Sohelian et al. · 2021 · Science Signaling
  14. Mitochondrial DNA maintenance: an appraisal
    Alexander T. Akhmedov, José Marı́n-Garcı́a · 2015 · Molecular and Cellular Biochemistry
  15. Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans
    Enrico Baruffini, Tiziana Lodi, Cristina Dallabona, Andrea Puglisi, Massimo Zeviani, Iliana Ferrero · 2006 · Human Molecular Genetics
  16. Genetic features of mitochondrial respiratory chain disorders
    Rötig, Agnès, Munnich, Arnold · 2003 · Journal of the American Society of Nephrology
  17. RNase H1 directs origin-specific initiation of DNA replication in human mitochondria
    Viktor Posse, A. Al-Behadili, Jay P. Uhler, A. Clausen, A. Reyes, M. Zeviani, M. Falkenberg, C. Gustafsson · 2019 · PLoS Genetics
  18. Genetics and Mitochondrial Abnormalities in Autism Spectrum Disorders:A Review
    Sukhbir Dhillon, Jessica A. Hellings, Merlin G. Butler · 2011 · Current Genomics
  19. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
    Robert D. S. Pitceathly, Conrad Smith, Carl Fratter, Charlotte L. Alston, Langping He, Kate Craig, Emma L. Blakely, Julie Evans, John M. Taylor, Zarfishan Shabbir et al. · 2012 · Brain
  20. Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size
    Frank Norbert Gellerich, Marcus Deschauer, Ying Chen, Tobias Müller, Stephan Neudecker, Stephan Zierz · 2002 · Biochimica et Biophysica Acta (BBA) - Bioenergetics
  21. The implications of mitochondrial DNA copy number regulation during embryogenesis
    Phillippa J. Carling, Lynsey M. Cree, Patrick Francis Chinnery · 2011 · Mitochondrion
  22. Mitochondrial medicine: entering the era of treatment
    Saskia Koene, Jan A.M. Smeitink · 2009 · Journal of Internal Medicine
  23. Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases
    Shamima Rahman, Michael G. Hanna · 2009 · Journal of Neurology Neurosurgery & Psychiatry
  24. Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria
    Stanka Matic, Min Jiang, Thomas J. J. Nicholls, Jay P. Uhler, Caren Dirksen-Schwanenland, Paola Loguercio Polosa, Marie‐Lune Simard, Xinping Li, Ilian Atanassov, Oliver Rackham et al. · 2018 · Nature Communications
  25. MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions
    Caterina Garone, Carlos Rubio‐Terres, Sarah E. Calvo, Ali Naini, Kurenai Tanji, Salvatore DiMauro, Vamsi Krishna Mootha, Michio Hirano · 2012 · Archives of Neurology
  26. 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
  27. Review: Mitochondrial medicine--cardiomyopathy caused by defective oxidative phosphorylation.
    Egil Fosslien · 2003 · PubMed
  28. Genes, ageing and longevity in humans: Problems, advantages and perspectives
    Stefano Salvioli, Fabiola Olivieri, Francesca Marchegiani, Maurizio Cardelli, Aurelia Santoro, Elena Bellavista, Michele Mishto, Laura Invidia, Miriam Capri, Silvana Valensin et al. · 2006 · Free Radical Research
  29. Molecular genetics of mitochondrial disorders
    Lee‐Jun C. Wong · 2010 · Developmental Disabilities Research Reviews
  30. LysoTracker and MitoTracker Red are transport substrates of P‐glycoprotein: implications for anticancer drug design evading multidrug resistance
    Benny Zhitomirsky, Hodaya Farber, Yehuda G. Assaraf · 2018 · Journal of Cellular and Molecular Medicine
  31. Mitochondrial DNA Rearrangements in Health and Disease-A Comprehensive Study
    Joana Damas, David C. Samuels, João Carneiro, António Amorim, Filipe Pereira · 2013 · Human Mutation
  32. Mitochondrial genome changes and neurodegenerative diseases
    Milena Pinto, Carlos Torres Moraes · 2013 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
  33. PDIP38 Associates with Proteins Constituting the Mitochondrial DNA Nucleoid
    Xiaoli Cheng, Tomotake Kanki, Atsushi Fukuoh, Kippei Ohgaki, Ryu Takeya, Yoshimasa Aoki, Naotaka Hamasaki, Dongchon Kang · 2005 · The Journal of Biochemistry
  34. Disorders of mitochondrial function
    François‐Guillaume Debray, Marie A. Lambert, Grant A. Mitchell · 2008 · Current Opinion in Pediatrics
  35. Mitochondrial DNA involvement in human longevity
    Aurelia Santoro, Stefano Salvioli, Nicola Raule, Miriam Capri, Federica Sevini, Silvana Valensin, Daniela Monti, Dina Bellizzi, Giuseppe Passarino, Giuseppina Rose et al. · 2006 · Biochimica et Biophysica Acta (BBA) - Bioenergetics
  36. Yeast Models of Human Mitochondrial Diseases
    Antoni Barrientos · 2003 · IUBMB Life
  37. Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio)
    Lucia Artuso, Alessandro Romano, Tiziano Verri, Alice Domenichini, Francesco Argenton, Filippo Maria Santorelli, Vittoria Petruzzella · 2012 · Biochimica et Biophysica Acta (BBA) - Bioenergetics
  38. Deoxyribonucleotide Triphosphate Metabolism in Cancer and Metabolic Disease
    Raquel Buj, Katherine M. Aird · 2018 · Frontiers in Endocrinology
  39. DNA Damage and Base Excision Repair in Mitochondria and Their Role in Aging
    Ricardo Gredilla · 2010 · Journal of Aging Research
  40. Mitochondrial DNA replication and repair: all a flap
    Ian James Holt · 2009 · Trends in Biochemical Sciences
  41. The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication
    Min Jiang, Xie Xie, Xuefeng Zhu, Shan Jiang, Dusanka Milenkovic, J. Misic, Yong-Hong Shi, Nirwan Tandukar, Xin-Ping Li, I. Atanassov et al. · 2021 · Science Advances
  42. Mitochondrial dysfunction in neurodegenerative disorders
    Mark S. Baron, Alexei P. Kudin, Wolfram S. Kunz · 2007 · Biochemical Society Transactions
  43. Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers
    Jana Buzková, Joni Nikkanen, Sofia Ahola, Anna H. Hakonen, Ksenia Sevastianova, Topi Hovinen, Hannele Yki‐Järvinen, Kirsi Hannele Pietiläinen, Tuula R I Lönnqvist, Vidya Velagapudi et al. · 2018 · EMBO Molecular Medicine
  44. A Multi‐responsive Fluorescent Probe Reveals Mitochondrial Nucleoprotein Dynamics with Reactive Oxygen Species Regulation through Super‐resolution Imaging
    Guanqing Yang, Zhengjie Liu, Ruilong Zhang, Xiaohe Tian, Juan Chen, Guangmei Han, Bianhua Liu, Xinya Han, Yao Fu, Zhangjun Hu et al. · 2020 · Angewandte Chemie International Edition
  45. Mitochondrial Nucleoid and Transcription Factor A
    Tomotake Kanki, Hiroshi Nakayama, Narie Sasaki, Koji Takio, Tanfis I. Alam, Naotaka Hamasaki, Dongchon Kang · 2004 · Springer eBooks
  46. Of circles, forks and humanity: Topological organisation and replication of mammalian mitochondrial DNA
    Jaakko Pohjoismäki, Steffi Goffart · 2011 · BioEssays
  47. Oxidative DNA damage stalls the human mitochondrial replisome
    Gorazd Stojkovič, Аlena V. Makarova, Paulina H. Wanrooij, Josefin M. E. Forslund, Peter Burgers, Sjoerd Wanrooij · 2016 · Scientific Reports
  48. A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia
    Marcus Deschauer, Gavin Hudson, Tobias Müller, Robert William Taylor, Patrick Francis Chinnery, Stephan Zierz · 2005 · Neuromuscular Disorders
  49. Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase γ associated with progressive external ophthalmoplegia
    Gregory R. Stuart, Janine Hertzog Santos, Micheline K. Strand, Bennett Van Houten, William C. Copeland · 2005 · Human Molecular Genetics
  50. 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
  51. Mitochondrial respiration in B lymphocytes is essential for humoral immunity by controlling the flux of the TCA cycle
    Sophia Urbanczyk, Olivier R. Baris, Jörg Hofmann, Regina Verena Taudte, Naïg Guegen, Florian Golombek, Kathrin Castiglione, Xianyi Meng, Aline Bözec, Jana Thomas et al. · 2022 · Cell Reports
  52. To be or not to be a nucleoid protein: A comparison of mass-spectrometry based approaches in the identification of potential mtDNA-nucleoid associated proteins
    Fenna Hensen, Şirin Cansız-Arda, Joachim Matthias Gerhold, Johannes N. Spelbrink · 2013 · Biochimie
  53. mtDNA Mutations and Their Role in Aging, Diseases and Forensic Sciences
    Sara C. Zapico · 2013 · Aging and Disease
  54. Enzymes involved in organellar DNA replication in photosynthetic eukaryotes
    Takashi Moriyama, Naoki Sato · 2014 · Frontiers in Plant Science
  55. An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature
    Justine Lerat, Laurence Jonard, Natalie Loundon, Sophie Christin‐Maître, Didier Lacombe, Cyril Goizet, Cécile Rouzier, Lionel Van Maldergem, Souad Gherbi, Erea Noel Garabedian et al. · 2016 · Human Mutation
  56. Replicating animal mitochondrial DNA
    Emily A. McKinney, Marcos T. Oliveira · 2013 · Genetics and Molecular Biology
  57. TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease
    Bradley Peter, Maria Falkenberg · 2020 · Genes
  58. The N-terminal domain of TWINKLE contributes to single-stranded DNA binding and DNA helicase activities
    Géraldine Farge, Thorbjörn Holmlund, Julia Khvorostova, Reza Rofougaran, Anders Hofer, Maria Falkenberg · 2007 · Nucleic Acids Research
  59. Therapeutic Targeting of the Mitochondria Initiates Excessive Superoxide Production and Mitochondrial Depolarization Causing Decreased mtDNA Integrity
    Kaytee L. Pokrzywinski, Thomas G. Biel, Dmitry S. Kryndushkin, V. Ashutosh Rao · 2016 · PLoS ONE
  60. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
    Camille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé, Marie O. Péquignot, Fenna Hensen, Mélanie Quilès, Gaël Manès, Arka Jyoti Chakraborty, Audrey Sénéćhal, Béatrice Bocquet et al. · 2019 · Journal of Clinical Investigation
  61. Mitochondrial DNA damage and the aging process–facts and imaginations
    Rudolf J. Wiesner, Gábor Zsurka, Wolfram S. Kunz · 2006 · Free Radical Research
  62. 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
  63. Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease
    Elizabeth M. McCormick, Zarazuela Zolkipli‐Cunningham, Marni J. Falk · 2018 · Current Opinion in Pediatrics
  64. ANT1, Twinkle, POLG, and TP
    Michio Hirano, Salvatore DiMauro · 2001 · Neurology
  65. Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing
    Swaraj Basu, Xie Xie, Jay P. Uhler, Carola Hedberg‐Oldfors, Dusanka Milenkovic, Olivier R. Baris, Sammy Kimoloi, Stanka Matic, James Bruce Stewart, Nils‐Göran Larsson et al. · 2020 · PLoS Genetics
  66. 155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21–23 September 2007, Naarden, The Netherlands
    Patrick Francis Chinnery, Massimo Zeviani · 2007 · Neuromuscular Disorders
  67. Mitochondrial and Nuclear Localization of Human Pif1 Helicase
    Kazunobu Futami, Akira Shimamoto, Yasuhiro Furuichi · 2007 · Biological and Pharmaceutical Bulletin
  68. Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria
    Gokhan Akman, Radha Desai, Laura J. Bailey, Takehiro Yasukawa, Ilaria Dalla Rosa, Romina Durigon, J. Bradley Holmes, Chloe F. Moss, Mara Mennuni, Henry Houlden et al. · 2016 · Proceedings of the National Academy of Sciences
  69. Rational Designs at the Forefront of Mitochondria-Targeted Gene Delivery: Recent Progress and Future Perspectives
    Naoto Yoshinaga, Keiji Numata · 2022 · ACS Biomaterials Science & Engineering
  70. Disorders from perturbations of nuclear‐mitochondrial intergenomic cross‐talk
    Antonella Spinazzola, Massimo Zeviani · 2009 · Journal of Internal Medicine
  71. Mammalian mitochondrial DNA replication and mechanisms of deletion formation
    Maria Falkenberg, Claes M. Gustafsson · 2020 · Critical Reviews in Biochemistry and Molecular Biology
  72. Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/Twinkle
    Gert Van Goethem, Ann Löfgren, Bart Dermaut, C. Ceuterick, Jean‐Jacques Martin, Christine Van Broeckhoven · 2003 · Human Mutation
  73. MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle
    Emma L. Blakely, Anna Butterworth, Robert D. M. Hadden, István Bódi, Langping He, Robert McFarland, Robert William Taylor · 2012 · Neuromuscular Disorders
  74. Regulation of mitochondrial DNA content and cancer
    Masahiro Higuchi · 2006 · Mitochondrion
  75. 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
  76. Organization, dynamics and transmission of mitochondrial DNA: Focus on vertebrate nucleoids
    Florence Malka, Anne Lombès, Manuel Rojo · 2006 · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
  77. A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions
    Hirofumi Komaki, Toshiyuki Fukazawa, Hideki Houzen, Kazuto Yoshida, Ikuya Nonaka, Yu‐ichi Goto · 2002 · Annals of Neurology
  78. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
    Beatriz De la Casa‐Fages, Gorka Fernández‐Eulate, Josep Gámez, Raúl Barahona‐Hernando, Germán Morís, María García‐Barcina, Jon Infante, Miren Zulaica, Uxoa Fernández‐Pelayo, Mikel Muñoz‐Oreja et al. · 2019 · Movement Disorders
  79. Mitochondrial DNA degradation: A quality control measure for mitochondrial genome maintenance and stress response
    Linlin Zhao · 2019 · The Enzymes
  80. 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
  81. Assessment of newly synthesized mitochondrial DNA using BrdU labeling in primary neurons from Alzheimer's disease mice: Implications for impaired mitochondrial biogenesis and synaptic damage
    Marcus J. Calkins, P. Hemachandra Reddy · 2011 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
  82. Disorders of Nuclear-Mitochondrial Intergenomic Communication
    Antonella Spinazzola, Massimo Zeviani · 2007 · Bioscience Reports
  83. Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domain
    Roberto Del Bo, Andreina Bordoni, Monica Sciacco, Alessio Di Fonzo, Sara Galbiati, Marco Crimi, Nereo Bresolin, Giacomo P. Comi · 2003 · Neurology
  84. Techniques and Pitfalls in the Detection of Pathogenic Mitochondrial DNA Mutations
    Carlos Torres Moraes, David P. Atencio, Jose Oca‐Cossio, Francisca Díaz · 2003 · Journal of Molecular Diagnostics
  85. Neurodevelopmental Manifestations of Mitochondrial Disease
    Marni J. Falk · 2010 · Journal of Developmental & Behavioral Pediatrics
  86. Minireview: DNA replication in plant mitochondria
    John D. Cupp, Brent L. Nielsen · 2014 · Mitochondrion
  87. Large deletions in mitochondrial DNA in radiation-associated human thyroid tumors.
    Tatiana Rogounovitch, Vladimir Saenko, Yuki Shimizu‐Yoshida, Aleksandr Yu Abrosimov, Eugeny F. Lushnikov, Pavel O. Roumiantsev, Akira Ohtsuru, Hiroyuki Namba, Anatoly F. Tsyb, Shunichi Yamashita · 2002 · PubMed
  88. Helicases: An Overview
    Mohamed M. Abdelhaleem · 2009 · Methods in molecular biology
  89. Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances
    Neil Ashley, Susan Adams, Abdelhamid Slama, Massimo Zeviani, Anu Suomalainen, Antoni L. Andreu, Robert K. Naviaux, Joanna Poulton · 2007 · Human Molecular Genetics
  90. Thyroid hormone and myocardial mitochondrial biogenesis
    José Marı́n-Garcı́a · 2009 · Vascular Pharmacology
  91. Mitochondrial RNA granules are critically dependent on mtDNA replication factors Twinkle and mtSSB
    Fenna Hensen, Alisa Potter, S. V. van Esveld, Aleix Tarrés-Solé, A. Chakraborty, M. Solà, J. Spelbrink · 2019 · Nucleic Acids Research
  92. Insights regarding mitochondrial DNA copy number alterations in human cancer (Review)
    Siti Muslihah Abd Radzak, Siti Zulaikha Nashwa Mohd Khair, Farizan Ahmad, Azim Patar, Zamzuri Idris, Abdul Aziz Mohamed Yusoff · 2022 · International Journal of Molecular Medicine
  93. Mitochondrial disorders: aetiologies, models systems, and candidate therapies
    Gwyneth Jane Farrar, Naomi Chadderton, Paul F. Kenna, Sophia Millington‐Ward · 2013 · Trends in Genetics
  94. Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions
    Iselin Marie Wedding, Jeanette Aimee Koht, Gia Tuong Tran, Doriana Misceo, Kaja Kristine Selmer, Asbjørn Holmgren, Eirik Frengen, Laurence Albert Bindoff, Chantal M E Tallaksen, Charalampos Tzoulis · 2014 · PLoS ONE
  95. Mitochondrial Fusion/Fission, Transport and Autophagy in Parkinson's Disease: When Mitochondria Get Nasty
    Daniela M. Arduíno, A. Raquel Esteves, Sandra M. Cardoso · 2011 · Parkinson s Disease
  96. The Schizosaccharomyces pombe Pfh1p DNA Helicase Is Essential for the Maintenance of Nuclear and Mitochondrial DNA
    Stefan F. Pinter, Sarah D. Aubert, Virginia A. Zakian · 2008 · Molecular and Cellular Biology
  97. Mitochondrial diseases in adults
    Chiara La Morgia, Alessandra Maresca, Leonardo Caporali, Maria Lucia Valentino, Valério Carelli · 2020 · Journal of Internal Medicine
  98. Frequent Intracellular Clonal Expansions of Somatic mtDNA Mutations
    Hilary A. Coller, Natalya D. Bodyak, Konstantin Khrapko · 2002 · Annals of the New York Academy of Sciences
  99. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans
    Orly N Elpeleg, Hanna Mandel, Ann Saada · 2002 · Journal of Molecular Medicine
  100. Screen for mitochondrial DNA copy number maintenance genes reveals essential role for ATP synthase
    Atsushi Fukuoh, Giuseppe Cannino, Mike Gerards, Suzanne Buckley, Selena Kazancioglu, Filippo Scialò, Eero Lihavainen, Andre Sanches Ribeiro, Éric Dufour, Howard Trevor Jacobs · 2014 · Molecular Systems Biology