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
DOI 10.1038/90058

Cited by (884)

Items 401–500 of 884

  1. Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation
    Wim Vandenberghe, Koen Van Laere, Frederik Debruyne, Christine Van Broeckhoven, Gert Van Goethem · 2008 · Movement Disorders
  2. Yeast and human mitochondrial helicases.
    R. Szczęsny, Magdalena A Wojcik, Lukasz S. Borowski, M. Szewczyk, Magda M Skrok, P. Golik, P. Stepien · 2013 · Biochimica et Biophysica Acta
  3. Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA
    Charalampos L. Karadimas, Leonardo Salviati, Sabrina Sacconi, Penelope Chronopoulou, Sara Shanske, Eduardo Bonilla, Darryl C. De Vivo, Salvatore DiMauro · 2002 · Neuromuscular Disorders
  4. Mitochondrial Dysfunction in Bipolar Disorder: from 31P-Magnetic Resonance Spectroscopic Findings to their Molecular Mechanisms
    Tadafumi Kato · 2005 · International review of neurobiology
  5. Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome
    Célia Nogueira, Jorge Sales Marques, Claudia Nesti, Luı́sa Azevedo, Martina Di Lullo, Maria Chiara Meschini, Antonio Orlacchio, Filippo Maria Santorelli, Laura Vilarinho · 2013 · Molecular Genetics and Metabolism
  6. Mitochondrial disorders of the nuclear genome.
    Corrado Italo Angelini, Luca Bello, Marco Spinazzi, Chiara Ferrati · 2009 · PubMed Central
  7. Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases
    X. Wang, Kelly Salinas, Xiaoming Zuo, Blanka Kucejová, Xin Jie Chen · 2008 · Human Molecular Genetics
  8. Historical perspective on mitochondrial medicine
    Salvatore DiMauro, Caterina Garone · 2010 · Developmental Disabilities Research Reviews
  9. Animal models of mitochondrial DNA transactions in disease and ageing
    Marcos T. Oliveira, Rafael Garesse, Laurie S. Kaguni · 2010 · Experimental Gerontology
  10. Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders
    Brooke E. Hjelm, Brandi L. Rollins, Ling Z. Morgan, Adolfo Sequeira, Firoza Mamdani, Filipe Pereira, Joana Damas, Michelle G. Webb, Matthieu D Weber, Alan F. Schatzberg et al. · 2019 · Nucleic Acids Research
  11. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.
    Gert Van Goethem, Jean‐Jacques Martin, Christine Van Broeckhoven · 2002 · PubMed
  12. Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems
    Adam J. Kuszak, Michael Graham Espey, Marni J. Falk, Marissa A. Holmbeck, Giovanni Manfredi, Gerald S. Shadel, Hilary J. Vernon, Zarazuela Zolkipli‐Cunningham · 2017 · Annual Review of Pathology Mechanisms of Disease
  13. The Linker Region between the Helicase and Primase Domains of the Gene 4 Protein of Bacteriophage T7
    Seung‐Joo Lee, Charles Clifton Richardson · 2004 · Journal of Biological Chemistry
  14. Evolutionary Rate Variation in Organelle Genomes: The Role of Mutational Processes
    Daniel B. Sloan, DOUGLAS R. TAYLOR · 2011 · Springer eBooks
  15. Transformations of the macromolecular landscape at mitochondria during DNA-damage-induced apoptotic cell death
    N Yadav, Artem Pliss, Andrey N. Kuzmin, Péter Rapali, Leimin Sun, Paras N. Prasad, Dhyan Chandra · 2014 · Cell Death and Disease
  16. Dynamic regulation of mitochondrial function in preimplantation embryos and embryonic stem cells
    Alexandra J. Harvey, Tiffini C. Gibson, Thomas A. Lonergan, Carol A. Brenner · 2010 · Mitochondrion
  17. Helicase-inactivating mutations as a basis for dominant negative phenotypes
    Yuliang Wu, Robert M. Brosh · 2010 · Cell Cycle
  18. Parkin deficiency accelerates consequences of mitochondrial DNA deletions and Parkinsonism
    Lanying Song, Marissa Z. McMackin, Andy Nguyen, Gino A. Cortopassi · 2016 · Neurobiology of Disease
  19. Mitochondrial DNA deletion mutations in patients with neuropsychiatric symptoms
    Maiko Kato, Masayuki Nakamura, Mio Ichiba, Akiyuki Tomiyasu, Hirochika Shimo, Itsuro Higuchi, Shuichi Ueno, Akira Sano · 2010 · Neuroscience Research
  20. Acute hepatitis and acute liver failure: Pathologic diagnosis and differential diagnosis
    Stanley Kwong, Cherise Meyerson, Wei Zheng, Ari Kassardjian, Nicholas Stanzione, Kuixing Zhang, Hanlin L. Wang · 2019 · Seminars in Diagnostic Pathology
  21. DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion
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  22. Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
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  23. Two families with autosomal dominant progressive external ophthalmoplegia
    Stefan Julia Kiechl · 2004 · Journal of Neurology Neurosurgery & Psychiatry
  24. Mitochondrial Diseases ‐ An Expanding Spectrum of Disorders and Affected Genes
    Jürgen‐Christoph von Kleist-Retzow, U. Schauseil-Zipf, Dietrich Volker Michalk, Wolfram S. Kunz · 2003 · Experimental Physiology
  25. Integrated pathways of parkin control over mitochondrial maintenance – relevance to Parkinson’s disease pathogenesis
    Katarzyna Gawęda-Walerych, Cezary Żekanowski · 2013 · Acta Neurobiologiae Experimentalis
  26. FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome
    Hongzheng Dai, V. W. Zhang, Ayman W. El‐Hattab, C. Ficicioglu, Marwan S. Shinawi, Matthew A. Lines, Andreas Schulze, M. McNutt, Garrett K. Gotway, Xiaoyan Tian et al. · 2016 · Clinical Genetics
  27. Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia†
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  28. Homologous DNA strand exchange activity of the human mitochondrial DNA helicase TWINKLE
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  29. Twinkle overexpression prevents cardiac rupture after myocardial infarction by alleviating impaired mitochondrial biogenesis
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  30. Mitochondrial DNA mutations and oxidative stress in mitochondrial diseases
    Yau‐Huei Wei, Hsin‐Chen Lee · 2003 · Advances in clinical chemistry
  31. DELE1 maintains muscle proteostasis to promote growth and survival in mitochondrial myopathy
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  32. Mitochondrial encephalopathy
    Nicola Longo · 2003 · Neurologic Clinics
  33. Mitochondrial Diseases: A Cross-Talk Between Mitochondrial and Nuclear Genomes
    Antonella Spinazzola, Massimo Zeviani · 2009 · Advances in experimental medicine and biology
  34. The human MSH5 (MutS Homolog 5) protein localizes to mitochondria and protects the mitochondrial genome from oxidative damage
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  35. Therapeutic treatments of mtDNA diseases at the earliest stages of human development
    Marcos Roberto Chiaratti, Flávio Vieira Meirelles, Dagan Wells, Joanna Poulton · 2010 · Mitochondrion
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    J. Antonie Maassen, George M. C. Janssen, H. H. P. J. Lemkes · 2002 · Journal of Endocrinological Investigation
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  41. Human mitochondrial DNA diseases and Drosophila models
    Zhe Chen, Fan Zhang, Hong Xu · 2019 · Journal of genetics and genomics/Journal of Genetics and Genomics
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    Justin X. Boeckman, Abby M. Korn, Guichun W. Yao, Aravind Ravindran, Carlos F. Gonzalez, Jason J. Gill · 2022 · Virology
  43. A mechanistic view of human mitochondrial DNA polymerase γ: Providing insight into drug toxicity and mitochondrial disease
    Christopher M. Bailey, Karen S. Anderson · 2010 · Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics
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    Satoshi Fuke, Mizue Kametani, Kazuyuki Yamada, Takaoki Kasahara, Mie Kubota‐Sakashita, Gregory C. Kujoth, Tomas A. Prolla, Seiji Hitoshi, Tadafumi Kato · 2014 · Annals of Clinical and Translational Neurology
  45. Sequence and functional analyses of mtDNA in a maternally inherited family with bipolar disorder and depression
    Kae Munakata, Kumiko Fujii, Shinichiro Nanko, Hiroshi Kunugi, Tadafumi Kato · 2007 · Mutation research. Fundamental and molecular mechanisms of mutagenesis
  46. The conserved translocase Tim17 prevents mitochondrial DNA loss
    Michelina Iacovino, Caroline Granycome, Hiroshi Sembongi, Monika Bokori‐Brown, Ronald A. Butow, Ian James Holt, J.E. Bateman · 2008 · Human Molecular Genetics
  47. Adult-onset Mendelian PEO Associated with Mitochondrial Disease
    Ewen W. Sommerville, Patrick Francis Chinnery, Gráinne S. Gorman, Robert William Taylor · 2014 · Journal of Neuromuscular Diseases
  48. Helicase Hmi1 stimulates the synthesis of concatemeric mitochondrial DNA molecules in yeast Saccharomyces cerevisiae
    Tiina Sedman, Priit Jõers, Silja Kuusk, Juhan Sedman · 2005 · Current Genetics
  49. Inherited Mitochondrial DNA Depletion
    Orly N Elpeleg · 2003 · Pediatric Research
  50. Therapy Prospects for Mitochondrial DNA Maintenance Disorders
    Javier Ramón, Ferran Vila‐Julià, David Molina-Granada, Miguel Molina‐Berenguer, M Melia, Elena García‐Arumí, Javier Torres‐Torronteras, Yolanda Cámara, Ramón Martí · 2021 · International Journal of Molecular Sciences
  51. Principal Aspects Regarding the Maintenance of Mammalian Mitochondrial Genome Integrity
    Panagiotis V. S. Vasileiou, Iordanis S. Mourouzis, Constantinos I. Pantos · 2017 · International Journal of Molecular Sciences
  52. Alteration of Nucleotide Metabolism: A New Mechanism for Mitochondrial Disorders
    Ramón Martí, Yutaka Nishigaki, Maya R. Vilà, Michio Hirano · 2003 · Clinical Chemistry and Laboratory Medicine (CCLM)
  53. Mitochondrial disease: mimics and chameleons
    Mika Henrik Martikainen, Patrick Francis Chinnery · 2015 · Practical Neurology
  54. Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability
    Naghia Ahmed, Dario Ronchi, Giacomo P. Comi · 2015 · International Journal of Molecular Sciences
  55. Phenotypic rescue of aDrosophilamodel of mitochondrial ANT1 disease
    Suvi Vartiainen, Shanjun Chen, Jack Morikka, Tea Tuomela, Kaisa R. Luoto, Kevin M.C. O’Dell, Howard Trevor Jacobs · 2014 · Disease Models & Mechanisms
  56. Transcript availability dictates the balance between strand-asynchronous and strand-coupled mitochondrial DNA replication
    Tricia J. Cluett, Gokhan Akman, Aurelio Reyes, Lawrence Kazak, Alice Mitchell, Stuart Wood, Antonella Spinazzola, Johannes N. Spelbrink, Ian James Holt · 2018 · Nucleic Acids Research
  57. 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
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    Luisa Iommarini, Susana Peralta, Alessandra Torraco, Francisca Díaz · 2015 · Mitochondrion
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    Ling-Feng Luo, Cong-Cong Hou, Wan‐Xi Yang · 2013 · Gene
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    Takashi Moriyama, Naoyuki Tajima, Kohsuke Sekine, Naoki Sato · 2014 · Genome Biology and Evolution
  61. TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review
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  62. Structure, function and evolution of the animal mitochondrial replicative DNA helicase
    Laurie S. Kaguni, Marcos T. Oliveira · 2015 · Critical Reviews in Biochemistry and Molecular Biology
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  65. Mitochondrial diseases
    Tuan Vu, Michio Hirano, Salvatore DiMauro · 2002 · Neurologic Clinics
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    Craig, Kate, Young, Matthew J., Blakely, Emma L., Longley, Matthew J., Turnbull, Douglass M., Copeland, William C., Taylor, Robert W. · 2012 · Mitochondrion
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  73. Mitochondrial Dysfunction and Oxidative Stress
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