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

Cited by (884)

Items 301–400 of 884

  1. Plant Organelle Genome Replication
    Stewart A. Morley, Niaz Ahmad, Brent L. Nielsen · 2019 · Plants
  2. POLG-Related Disorders
    Bruce H. Cohen, Patrick Francis Chinnery, William C. Copeland · 2014 · Europe PMC (PubMed Central)
  3. Finding twinkle in the eyes of a 71‐year‐old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE‐related dominant disease
    Johan L.K. Van Hove, Vicki J. Cunningham, Cathlin D. Rice, Steven P. Ringel, Qing Hua Zhang, Ping Chieh Chou, Cavatina K. Truong, Lee Jun Wong · 2009 · American Journal of Medical Genetics Part A
  4. LRPPRC is a mitochondrial matrix protein that is conserved in metazoans
    Fredrik H. Sterky, Benedetta Ruzzenente, Claes M. Gustafsson, Tore Samuelsson, Nils‐Göran Larsson · 2010 · Biochemical and Biophysical Research Communications
  5. Inherited mitochondrial neuropathies
    Josef Finsterer · 2011 · Journal of the Neurological Sciences
  6. The cellular and molecular progression of mitochondrial dysfunction induced by 2,4-dinitrophenol in developing zebrafish embryos
    Jennifer E. Bestman, Krista D. Stackley, Jennifer J. Rahn, Tucker Williamson, Sherine S.L. Chan · 2015 · Differentiation
  7. Progressive External Ophthalmoplegia and Vision and Hearing Loss in a Patient With Mutations in POLG2 and OPA1
    Silvio Ferraris, Susanna Clark, Emanuela Garelli, Guido Davidzon, Steven A. Moore, Randy H. Kardon, Rachelle J. Bienstock, Matthew J. Longley, Michelangelo Mancuso, Purificación Gutiérrez Ríos et al. · 2008 · Archives of Neurology
  8. The genetics of strabismus
    Michel Michaelides, Anthony T. Moore · 2004 · Journal of Medical Genetics
  9. Approaches to Finding the Molecular Basis of Mitochondrial Oxidative Phosphorylation Disorders
    Denise M. Kirby, David R. Thorburn · 2008 · Twin Research and Human Genetics
  10. Mitochondrial Neurodegeneration
    Massimo Zeviani, Carlo Fiore Viscomi · 2022 · Cells
  11. Defects of Mitochondrial DNA Replication
    William C. Copeland · 2014 · Journal of Child Neurology
  12. The hexameric structure of the human mitochondrial replicative helicase Twinkle
    Pablo Fernández-Millán, Melisa Lázaro, Şirin Cansız-Arda, Joachim Matthias Gerhold, Nina K.M. Rajala, Claus Schmitz, Cristina Silva-Espiña, David Gil‐Carton, Pau Bernadó, Mikel Valle et al. · 2015 · Nucleic Acids Research
  13. Mitochondrial DNA repair: a novel therapeutic target for heart failure
    José Marı́n-Garcı́a · 2016 · Heart Failure Reviews
  14. Movement disorders in mitochondrial disease
    Roula Ghaoui, Carolyn M. Sue · 2018 · Journal of Neurology
  15. A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
    Marcus Deschauer, Reinhard Kiefer, Emma L. Blakely, Langping He, Stephan Zierz, Douglass M. Turnbull, Robert William Taylor · 2003 · Neuromuscular Disorders
  16. The transmission of OXPHOS disease and methods to prevent this
    L.J.A.M. Jacobs, Guido M W R de Wert, Joep P.M. Geraedts, I.F.M. de Coo, Hubert J.M. Smeets · 2005 · Human Reproduction Update
  17. The mitochondrial DNA helicase TWINKLE can assemble on a closed circular template and support initiation of DNA synthesis
    Elisabeth Jemt, Géraldine Farge, Stefan Bäckström, Teresa Holmlund, Claes M. Gustafsson, Maria Falkenberg · 2011 · Nucleic Acids Research
  18. Chronic progressive external ophthalmoplegia
    Andrew G. Lee, Paul W. Brazis · 2002 · Current Neurology and Neuroscience Reports
  19. Syndromes associated with mitochondrial DNA depletion
    Célia Nogueira, Lígia S. Almeida, Claudia Nesti, Ilaria Pezzini, Arnaldo Videira, Laura Vilarinho, Filippo Maria Santorelli · 2014 · The Italian Journal of Pediatrics/Italian journal of pediatrics
  20. 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
  21. Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b
    Fang-Yuan Li, Paul A. Cuddon, Jonathan C. Song, Sheri L. Wood, Jon S. Patterson, Gloria Diane Shelton, Ian D. Duncan · 2005 · Neurobiology of Disease
  22. Yeast mitochondrial biogenesis: a model system for humans?
    Françoise Foury, Martin Kucej · 2002 · Current Opinion in Chemical Biology
  23. 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
  24. Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders.
    William C. Copeland, Mikhail V. Ponamarev, Dinh Nguyen, Thomas A. Kunkel, Matthew J. Longley · 2003 · Acta Biochimica Polonica
  25. Mitochondrial disorders: Clinical presentation and diagnostic dilemmas
    Jan A.M. Smeitink · 2003 · Journal of Inherited Metabolic Disease
  26. 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
  27. Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript
    Alemi, Mansour, Prigione, Alessandro, Wong, Alice, Schoenfeld, Robert, DiMauro, Salvatore, Hirano, Michio, Taroni, Franco, Cortopassi, Gino · 2007 · Free Radical Biology and Medicine
  28. The ArabidopsisAt1g30680 gene encodes a homologue to the phage T7 gp4 protein that has both DNA primase and DNA helicase activities
    Joann Diray‐Arce, Bin W. Liu, John D. Cupp, Travis Hunt, Brent L. Nielsen · 2013 · BMC Plant Biology
  29. Reduced Stimulation of Recombinant DNA Polymerase γ and Mitochondrial DNA (mtDNA) Helicase by Variants of Mitochondrial Single-stranded DNA-binding Protein (mtSSB) Correlates with Defects in mtDNA Replication in Animal Cells
    Marcos T. Oliveira, Laurie S. Kaguni · 2011 · Journal of Biological Chemistry
  30. The adenine nucleotide translocase type 1 (ANT1): A new factor in mitochondrial disease
    J. Daniel Sharer · 2005 · IUBMB Life
  31. Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome
    Monika Ołdak, Dominika Oziębło, Agnieszka Pollak, Iwona Stępniak, Michał Łaźniewski, Urszula Lechowicz, Krzysztof Kochanek, Mariusz Ireneusz Furmanek, Grażyna Tacikowska, Dariusz Plewczyński et al. · 2017 · Journal of Translational Medicine
  32. Mitochondrial diseases and the role of the yeast models
    Teresa Rinaldi, Cristina Dallabona, Ileana Ferrero, Laura Frontali, Monique Bolotin‐Fukuhara · 2010 · FEMS Yeast Research
  33. Modular Architecture of the Hexameric Human Mitochondrial DNA Helicase
    Tawn D. Ziebarth, Carol L. Farr, Laurie S. Kaguni · 2007 · Journal of Molecular Biology
  34. The Replication System of Bacteriophage T7
    Arek Kulczyk, C C Richardson · 2016 · The Enzymes
  35. Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders
    Catherine DeBrosse, Ravi Prakash Reddy Nanga, Neil E. Wilson, Kevin D’Aquilla, Mark A. Elliott, Hari Hariharan, Felicia Yan, Kristin Wade, Sara Nguyen, Diana Worsley et al. · 2016 · JCI Insight
  36. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay
    Mourad Naïmi, Sylvie Bannwarth, Vincent Procaccio, Jean Pouget, Claude Desnuelle, Jean‐François Pellissier, Agnès Rötig, Arnold Münnich, Patrick Calvas, Christian Richelme et al. · 2006 · European Journal of Human Genetics
  37. Clinical and molecular features of adPEO due to mutations in the Twinkle gene
    Sharon Lewis, Wendy M. Hutchison, Dominic E Thyagarajan, Hans‐Henrik M. Dahl · 2002 · Journal of the Neurological Sciences
  38. Mitochondrial protein dysfunction in pathogenesis of neurological diseases
    Liang Wang, Ziyun Yang, Xiumei He, Shiming Pu, Cheng Yang, Qiong Wu, Zuping Zhou, Xiaobo Cen, Hongxia Zhao · 2022 · Frontiers in Molecular Neuroscience
  39. Deoxyribonucleotides and Disorders of Mitochondrial DNA Integrity
    Ann Saada · 2004 · DNA and Cell Biology
  40. Mitochondrial medicine
    Salvatore DiMauro · 2004 · Biochimica et Biophysica Acta (BBA) - Bioenergetics
  41. The interface of transcription and DNA replication in the mitochondria
    Rajesh Kasiviswanathan, Tammy Collins, William C. Copeland · 2011 · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
  42. RNA Granules in the Mitochondria and Their Organization under Mitochondrial Stresses
    Vanessa Joanne Xavier, Jean‐Claude Martinou · 2021 · International Journal of Molecular Sciences
  43. Mitochondrial Encephalomyopathies
    Anders Oldfors, M. Tulinius · 2003 · Journal of Neuropathology & Experimental Neurology
  44. 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
  45. Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients
    Roberto Del Bo, Andreina Bordoni, Filippo Martinelli Boneschi, Marco Crimi, Monica Sciacco, Nereo Bresolin, Guglielmo Scarlato, Giacomo P. Comi · 2002 · Journal of the Neurological Sciences
  46. Searching for nuclear-mitochondrial genes
    Patrick Francis Chinnery · 2003 · Trends in Genetics
  47. Mitochondrial diseases: a nosological update
    Massimiliano Filosto, Michelangelo Mancuso · 2006 · Acta Neurologica Scandinavica
  48. Different faces of mitochondrial DNA mutators
    Karolina Szczepanowska, Aleksandra Trifunović · 2015 · Biochimica et Biophysica Acta (BBA) - Bioenergetics
  49. Mitochondrial Single-stranded DNA-binding Proteins Stimulate the Activity of DNA Polymerase γ by Organization of the Template DNA
    Grzegorz L. Ciesielski, Oya Bermek, Fernando A. Rosado-Ruiz, Stacy Hovde, Orrin J. Neitzke, Jack D. Griffith, Laurie S. Kaguni · 2015 · Journal of Biological Chemistry
  50. How is Mitochondrial Biogenesis Affected in Mitochondrial Disease?
    Béatrice Chabi, Peter J. Adhihetty, Vladimir Ljubicic, David Albert Hood · 2005 · Medicine & Science in Sports & Exercise
  51. Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders
    Eino Palin, Anders E. Paetau, Anu Suomalainen · 2013 · Brain
  52. Neuro-ophthalmology of mitochondrial diseases
    Valérie Biousse, Nancy J. Newman · 2003 · Current Opinion in Neurology
  53. 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
  54. Biochemical properties of a plastidial DNA polymerase of rice
    Ryo Takeuchi, Seisuke Kimura, Ai Saotome, Kengo Sakaguchi · 2007 · Plant Molecular Biology
  55. POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts
    Joanna D. Stewart, Susanne Schöler, Kamil S. Sitarz, Rita Horváth, Kerstin Hallmann, Angela Pyle, Patrick Yu‐Wai‐Man, Robert William Taylor, David C. Samuels, Wolfram S. Kunz et al. · 2010 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
  56. Structural and functional characterizations of mung bean mitochondrial nucleoids
    Hwa Dai, Yih‐Shan Lo, Alexandra V. Litvinchuk, Yuh‐Tai Wang, Wann‐Neng Jane, Lin‐June Hsiao, Kwen‐Sheng Chiang · 2005 · Nucleic Acids Research
  57. Molecular diagnostics of mitochondrial disorders
    Agnès Rötig, Sophie Lebon, Elena Zinovieva, Julie Mollet, Emmanuelle Sarzi, Jean‐Paul Bonnefont, Arnold Münnich · 2004 · Biochimica et Biophysica Acta (BBA) - Bioenergetics
  58. Mitochondrial involvement in neurodegenerative diseases
    Gábor Zsurka, Wolfram S. Kunz · 2013 · IUBMB Life
  59. Genetic bases of mitochondrial respiratory chain disorders
    Agnès Rötig · 2010 · Diabetes & Metabolism
  60. Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia
    Richard Virgilio, Dario Ronchi, George M. Hadjigeorgiou, Andreina Bordoni, Francesca Saladino, Maurizio Gualtiero Moggio, Laura Adobbati, D. Kafetsouli, Evangelia E. Tsironi, Stefano Carlo Previtali et al. · 2008 · Journal of Neurology
  61. Mitochondrial transcription termination factor 1 directs polar replication fork pausing
    Yonghong Shi, Viktor Posse, Xuefeng Zhu, Anne K. Hyvärinen, Howard Trevor Jacobs, Maria Falkenberg, Claes M. Gustafsson · 2016 · Nucleic Acids Research
  62. Molecular Biomarkers of the Mitochondrial Quality Control Are Differently Affected by Hypoxia-Reoxygenation Stress in Marine Bivalves Crassostrea gigas and Mytilus edulis
    Jennifer B. M. Steffen, Halina Falfushynska, Helen Piontkivska, Inna M. Sokolova · 2020 · Frontiers in Marine Science
  63. Mitochondrial Neurogastrointestinal Encephalopathy Disease
    Michio Hirano · 2016 · Europe PMC (PubMed Central)
  64. 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
  65. OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape
    Zeviani, M. · 2008 · Brain
  66. Whole Cell Formaldehyde Cross-Linking Simplifies Purification of Mitochondrial Nucleoids and Associated Proteins Involved in Mitochondrial Gene Expression
    Nina K.M. Rajala, Fenna Hensen, Hans J. C. T. Wessels, Daniel Ives, Jolein Gloerich, Johannes N. Spelbrink · 2015 · PLoS ONE
  67. 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
  68. Abnormal Ca2+Dynamics in Transgenic Mice with Neuron-Specific Mitochondrial DNA Defects
    Mie Kubota, Takaoki Kasahara, Takeshi Nakamura, Mizuho Ishiwata, T. Miyauchi, Tadafumi Kato · 2006 · Journal of Neuroscience
  69. Mutations in the Spacer Region of Drosophila Mitochondrial DNA Polymerase Affect DNA Binding, Processivity, and the Balance between Pol and Exo Function
    Ningguang Luo, Laurie S. Kaguni · 2004 · Journal of Biological Chemistry
  70. Maintaining precursor pools for mitochondrial DNA replication
    Christopher K. Mathews, Shiwei Song · 2007 · The FASEB Journal
  71. Inherited Mitochondrial Disorders
    Josef Finsterer · 2011 · Advances in experimental medicine and biology
  72. Mutant twinkle increases dopaminergic neurodegeneration, mtDNA deletions and modulates Parkin expression
    Song, Lanying, Shan, Yuxi, Lloyd, K.C. Kent, Cortopassi, Gino A. · 2012 · Human Molecular Genetics
  73. Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson’s Disease
    Martina Lucchesi, Letizia Biso, Marco Bonaso, Biancamaria Longoni, Bianca Buchignani, Roberta Battini, Filippo Maria Santorelli, Stefano Doccini, Marco Scarselli · 2025 · International Journal of Molecular Sciences
  74. Imbalance of Mitochondrial Respiratory Chain Complexes in the Epidermis Induces Severe Skin Inflammation
    Daniela Weiland, Bent Brachvogel, Hue‐Tran Hornig‐Do, Johannes Neuhaus, Tatjana Holzer, Desmond John Tobin, Carien M. Niessen, Rudolf J. Wiesner, Olivier R. Baris · 2017 · Journal of Investigative Dermatology
  75. Molecular Genetics Overview of Primary Mitochondrial Myopathies
    Ignazio Giuseppe Arena, Alessia Pugliese, Sara Volta, António Toscano, Olimpia Musumeci · 2022 · Journal of Clinical Medicine
  76. Pathogenesis and Treatment of Mitochondrial Disorders
    Salvatore DiMauro, Michio Hirano · 2009 · Advances in experimental medicine and biology
  77. Ditercalinium chloride, a pro-anticancer drug, intimately associates with mammalian mitochondrial DNA and inhibits its replication
    Mayumi Okamaoto, Takashi Ohsato, Kazuto Nakada, Kotoyo Isobe, Johannes N. Spelbrink, Jun-Ichi Hayashi, Naotaka Hamasaki, Dongchon Kang · 2003 · Current Genetics
  78. Neuro-ophthalmology of mitochondrial diseases.
    Valérie Biousse, Nancy J. Newman · 2003 · PubMed
  79. Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies
    Andrés Berardo, Cristina Domínguez‐González, Kristin Engelstad, Michio Hirano · 2022 · Journal of Neuromuscular Diseases
  80. Mitochondrial DNA replication and repair defects: Clinical phenotypes and therapeutic interventions
    Abhipsa Roy, Amoolya Kandettu, Swagat Ray, Sanjiban Chakrabarty · 2022 · Biochimica et Biophysica Acta (BBA) - Bioenergetics
  81. 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
  82. Controlling the topology of mammalian mitochondrial DNA
    Katja E. Menger, Alejandro Rodríguez‐Luis, James Chapman, Thomas J. J. Nicholls · 2021 · Open Biology
  83. Mitochondrial Dynamics in Peripheral Neuropathies
    Marija Sajic · 2014 · Antioxidants and Redox Signaling
  84. Roles of DNA helicases in the maintenance of genome integrity
    Matthew L. Bochman · 2014 · Molecular & Cellular Oncology
  85. Mouse models of oxidative phosphorylation defects: Powerful tools to study the pathobiology of mitochondrial diseases
    Alessandra Torraco, Francisca Díaz, Uma Devi Vempati, Carlos Torres Moraes · 2008 · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
  86. Progressive external ophthalmoplegia
    Michio Hirano, Robert D. S. Pitceathly · 2023 · Handbook of clinical neurology
  87. Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: A case report and an update on the state of art
    Lorenzo Kiferle, Daniele Orsucci, Michelangelo Mancuso, Annalisa Lo Gerfo, Lucia Petrozzi, Gabriele Siciliano, Roberto Ceravolo, Ubaldo Bonuccelli · 2013 · Neuroscience Letters
  88. Borrowing Nuclear DNA Helicases to Protect Mitochondrial DNA
    Lin Ding, Yilun Liu · 2015 · International Journal of Molecular Sciences
  89. Impact of Assisted Reproductive Technologies: A Mitochondrial Perspective of Cytoplasmic Transplantation
    Alexandra J. Harvey, Tiffini C. Gibson, T.M. Quebedeaux, C.A. Brenner · 2007 · Current topics in developmental biology/Current Topics in Developmental Biology
  90. adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria
    Hibiki Kawamata, Valeria Tiranti, Jordi Magrané, Christos Chinopoulos, Giovanni Manfredi · 2011 · Human Molecular Genetics
  91. Engineering mtDNA Deletions by Reconstituting End-Joining in Human Mitochondria
    Yi Fu, Max Land, Tamar Kavlashvili, Ruobing Cui, Min‐Soo Kim, Emily DeBitetto, Toby Lieber, Keun Woo Ryu, Elim Choi, Ignas Masilionis et al. · 2024 · Cell
  92. Unique features of DNA replication in mitochondria: A functional and evolutionary perspective
    Ian James Holt, Howard Trevor Jacobs · 2014 · BioEssays
  93. Zen and the art of mitochondrial DNA maintenance
    Ian James Holt · 2010 · Trends in Genetics
  94. Caenorhabditis elegans, a pluricellular model organism to screen new genes involved in mitochondrial genome maintenance
    Matthew Glover Addo, Raynald Cossard, Damien Pichard, Kwasi Obiri‐Danso, Agnès Rötig, Agnés Delahodde · 2010 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
  95. Mouse models for mitochondrial diseases
    Benedetta Ruzzenente, Agnès Rötig, Metodi Dimitrov Metodiev · 2016 · Human Molecular Genetics
  96. Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations
    Gittan Kollberg, Monica Jansson, Åsa Pérez-Bercoff, Atle Melberg, Christopher Lindberg, Elisabeth Holme, Ali‐Reza Moslemi, Anders Oldfors · 2005 · European Journal of Human Genetics
  97. Defective mitochondrial DNA replication and NRTIs: pathophysiological implications in AIDS cardiomyopathy
    William Lewis · 2003 · American Journal of Physiology-Heart and Circulatory Physiology
  98. Replication Proteins and Human Disease
    Andrew P. Jackson, Ron A. Laskey, Nicholas Coleman · 2013 · Cold Spring Harbor Perspectives in Biology
  99. Mitochondrial DNA homeostasis impairment and dopaminergic dysfunction: A trembling balance
    Arianna Manini, Elena Abati, Giacomo P. Comi, Stefania Paola Corti, Dario Ronchi · 2022 · Ageing Research Reviews
  100. Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy
    Giuliana Galassi, Eleonora Lamantea, Federica Invernizzi, Federica Tavani, Isabella Pisano, Ileana Ferrero, Luigi Palmieri, Massimo Zeviani · 2008 · Neuromuscular Disorders