Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Züchner, Stephan, Mersiyanova, Irina V, Muglia, Maria, Bissar-Tadmouri, Nisrine, Rochelle, Julie, Dadali, Elena L, Zappia, Mario, Nelis, Eva, Patitucci, Alessandra, Senderek, Jan, Parman, Yesim, Evgrafov, Oleg, Jonghe, Peter De, Takahashi, Yuji, Tsuji, Shoij, Pericak-Vance, Margaret A, Quattrone, Aldo, Battologlu, Esra, Polyakov, Alexander V, Timmerman, Vincent, Schröder, J Michael, Vance, Jeffery M·2004·Nature Genetics
DOI 10.1038/ng1341

Cited by (1,000)

Items 701–800 of 1,000

  1. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia
    Weilai Dong, Sheng Chih Jin, August A. Allocco, Xue Qiang Zeng, Amar H. Sheth, Shreyas Panchagnula, Annie Castonguay, Louis-Étienne Lorenzo, Barira Islam, Geneviève Brindle et al. · 2020 · iScience
  2. Mitochondrial medicine
    Salvatore DiMauro · 2004 · Biochimica et Biophysica Acta (BBA) - Bioenergetics
  3. Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease
    Hugh J. McMillan, Jeremy Schwartzentruber, Amanda C Smith, Suzie Lee, Pranesh K. Chakraborty, Dennis E. Bulman, Chandree L. Beaulieu, Jacek Majewski, Kym M. Boycott, Michael T. Geraghty · 2014 · BMC Medical Genetics
  4. Linking mitochondrial dynamics to mitochondrial protein quality control
    Suraiya Haroon, Marc Vermulst · 2016 · Current Opinion in Genetics & Development
  5. Sequences flanking the transmembrane segments facilitate mitochondrial localization and membrane fusion by mitofusin
    Xiaofang Huang, Xin Zhou, Xiaoyu Hu, Amit S. Joshi, Xiangyang Guo, Yushan Zhu, Quan Chen, William A. Prinz, Junjie Hu · 2017 · Proceedings of the National Academy of Sciences
  6. Tracking intra‐ and inter‐organelle signaling of mitochondria
    Corina T. Madreiter‐Sokolowski, Jeta Ramadani‐Muja, Gabriela Ziomek, Sandra Burgstaller, Helmut Bischof, Zhanat Koshenov, Benjamin Gottschalk, Roland Malli, Wolfgang F. Graier · 2019 · FEBS Journal
  7. Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A
    Hongge Wang, Matthew Davison, Kathryn Wang, Tai-he Xia, Martin L. Kramer, Katherine M. Call, Jun Luo, Xingyao Wu, Riccardo Zuccarino, Chelsea J. Bacon et al. · 2019 · Annals of Clinical and Translational Neurology
  8. Inherited Neuropathies
    Angelo E. Schenone, Lucilla Nobbio, Margherita Monti Bragadin, Giulia Ursino, Marina Grandis · 2011 · Current Treatment Options in Neurology
  9. Splitting up the powerhouse: structural insights into the mechanism of mitochondrial fission
    Viviane Richter, Abeer Prakash Singh, Marc Kvansakul, Michael T. Ryan, Laura Danielle Osellame · 2015 · Cellular and Molecular Life Sciences
  10. Current therapy for Charcot-Marie-Tooth disease
    Marina Grandis, Michael E. Shy · 2005 · Current Treatment Options in Neurology
  11. MITOL promotes cell survival by degrading Parkin during mitophagy
    Isshin Shiiba, Keisuke Takeda, Shun Nagashima, Naoki Ito, Takeshi Tokuyama, Shun‐ichi Yamashita, Tomotake Kanki, Toru Komatsu, Yasuteru Urano, Yuuta Fujikawa et al. · 2021 · EMBO Reports
  12. Balance is the challenge – The impact of mitochondrial dynamics in Parkinson’s disease
    Lena F. Burbulla, Guido Krebiehl, Rejko Krüger · 2010 · European Journal of Clinical Investigation
  13. Mitochondria-mediated damage to dopaminergic neurons in Parkinson's disease (Review)
    Xiao‐Liang Liu, Ying‑Di Wang, Xiu‐Ming Yu, Da‐Wei Li, Guang‐Ren Li · 2017 · International Journal of Molecular Medicine
  14. Genetic mechanisms of peripheral nerve disease
    Marina Stavrou, Irene Sargiannidou, Theodoulakis Christofi, Kleopas A. Kleopa · 2020 · Neuroscience Letters
  15. Cell Biology of Mitochondrial Dynamics
    Ben R. Kiefel, Paul R. Gilson, Peter L. Beech · 2006 · International review of cytology
  16. Mitochondrial Fragmentation Leads to Intracellular Acidification inCaenorhabditis elegansand Mammalian Cells
    David Johnson, Keith W. Nehrke · 2010 · Molecular Biology of the Cell
  17. A Mutation Associated with CMT2A Neuropathy Causes Defects in Fzo1 GTP Hydrolysis, Ubiquitylation, and Protein Turnover
    Elizabeth A. Amiott, Mickaël M. Cohen, Yann Saint-Georges, Allan M. Weissman, Janet M. Shaw · 2009 · Molecular Biology of the Cell
  18. The molecular genetics of non-ALS motor neuron diseases
    Paul Andrew James, Kevin Talbot · 2006 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
  19. Implications of mitochondrial fusion and fission in skeletal muscle mass and health
    Vanina Romanello, Marco Sandri · 2022 · Seminars in Cell and Developmental Biology
  20. Mitochondrial Dynamics at Different Levels: From Cristae Dynamics to Interorganellar Cross Talk
    Arun Kumar Kondadi, Andreas S. Reichert · 2024 · Annual Review of Biophysics
  21. Role of Mitochondrial Dysfunctions in Neurodegenerative Disorders: Advances in Mitochondrial Biology
    Divya Sri Kathiresan, Rubadevi Balasubramani, Kamalesh Marudhachalam, Piyush Jaiswal, Nivedha Ramesh, Gunna Sureshbabu Suruthi, Puthamohan Vinayaga Moorthi, Murali Vijayan · 2024 · Molecular Neurobiology
  22. An Unusual Splice Defect in the Mitofusin 2 Gene (MFN2) Is Associated with Degenerative Axonopathy in Tyrolean Grey Cattle
    Cord Drögemüller, Ursula Reichart, Torsten Seuberlich, Anna Oevermann, Martin Baumgartner, Kathrin Kuehni-Boghenbor, Michael Hubert Stoffel, C. Syring, Mireille Meylan, Simone Müller et al. · 2011 · PLoS ONE
  23. KIF1Bβ mutations detected in hereditary neuropathy impair IGF1R transport and axon growth
    Fang Xu, Hironori Takahashi, Yosuke Tanaka, Sotaro Ichinose, Shinsuke Niwa, Matthew Wicklund, Nobutaka Hirokawa · 2018 · The Journal of Cell Biology
  24. The power of yeast to model diseases of the powerhouse of the cell
    Steven Michael Claypool · 2012 · Frontiers in bioscience
  25. Ophthalmic manifestations of inherited neurodegenerative disorders
    Hannah M. Kersten, Richard H Roxburgh, Helen Victoria Danesh-Meyer · 2014 · Nature Reviews Neurology
  26. The Interplay between Oncogenic Signaling Networks and Mitochondrial Dynamics
    Sarbajeet Nagdas, David F. Kashatus · 2017 · Antioxidants
  27. Organelle Communication at Membrane Contact Sites (MCS): From Curiosity to Center Stage in Cell Biology and Biomedical Research
    Thomas Simmen, Mitsuo Tagaya · 2017 · Advances in experimental medicine and biology
  28. Reduced electron transport chain complex I protein abundance and function in Mfn2‐deficient myogenic progenitors lead to oxidative stress and mitochondria swelling
    Nanjian Luo, Feng Yue, Zhihao Jia, Jingjuan Chen, Qing Deng, Yongju Zhao, Shihuan Kuang · 2021 · The FASEB Journal
  29. The role of mitochondrial dynamics in disease
    Yujuan Wang, Xinyan Dai, Hui Li, Huiling Jiang, Jun-Fu Zhou, Shiying Zhang, Jiacheng Guo, Lidu Shen, Huantao Yang, Jie Ming Lin et al. · 2023 · MedComm
  30. Bioenergetic defect associated with mK ATP channel opening in a mouse model carrying a mitofusin 2 mutation
    Virginie Guillet, Naïg Guéguen, Romain Cartoni, Arnaud Chevrollier, Valérie Desquiret‐Dumas, Claire Angebault, Patrizia Amati‐Bonneau, Vincent Procaccio, Dominique Bonneau, Jean‐Claude Martinou et al. · 2011 · The FASEB Journal
  31. Mitochondrial involvement in neurodegenerative diseases
    Gábor Zsurka, Wolfram S. Kunz · 2013 · IUBMB Life
  32. The Genetics of Mitochondrial Disease
    Ryan L. Davis, Carolyn M. Sue · 2011 · Seminars in Neurology
  33. Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia
    Marinella Pirozzi, Angelo Quattrini, Gennaro Andolfi, Giorgia Dina, Maria Chiara Malaguti, Alberto Auricchio, Elena I. Rugarli · 2014 · Journal of Clinical Investigation
  34. Diabetes mellitus exacerbates motor and sensory impairment in CMT1A
    Soham G. Sheth, Kevin Francies, Carly E. Siskind, Shawna M. E. Feely, Richard A. Lewis, Michael E. Shy · 2008 · Journal of the Peripheral Nervous System
  35. Autophagy-mediated turnover of Dynamin-related Protein 1
    Phillip R. Purnell, Howard S. Fox · 2013 · BMC Neuroscience
  36. Mitochondrial fission and fusion and their roles in the heart
    Lesley A. Kane, Richard J. Youle · 2010 · Journal of Molecular Medicine
  37. Distinct types of protease systems are involved in homeostasis regulation of mitochondrial morphology via balanced fusion and fission
    Shotaro Saita, Takaya Ishihara, Maki Maeda, Shun‐ichiro Iemura, Tohru Natsume, Katsuyoshi Mihara, Naotada Ishihara · 2016 · Genes to Cells
  38. Discovery of 6-Phenylhexanamide Derivatives as Potent Stereoselective Mitofusin Activators for the Treatment of Mitochondrial Diseases
    Xiawei Dang, Lihong Zhang, Antonietta Franco, Jiajia Li, Agostinho Gomes Rocha, Sriram Devanathan, Roland E. Dolle, Peter R Bernstein, Gerald W. Dorn · 2020 · Journal of Medicinal Chemistry
  39. Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease
    Cara R. Schiavon, Gerald S. Shadel, Uri Manor · 2021 · Frontiers in Cell and Developmental Biology
  40. Activation of the CaMKII-Sarm1-ASK1-p38 MAP kinase pathway protects against axon degeneration caused by loss of mitochondria
    Chen Ding, Youjun Wu, Hadas Dabas, Marc Hammarlund · 2022 · eLife
  41. A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K
    Julien Cassereau, Arnaud Chevrollier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Pascal Reynier, Marc Ferré · 2011 · Orphanet Journal of Rare Diseases
  42. Proteins That Fuse and Fragment Mitochondria in Apoptosis: Con-Fissing a Deadly Con-Fusion?
    Luca Scorrano · 2005 · Journal of Bioenergetics and Biomembranes
  43. The Parkinson's disease‐associated gene PINK 1 protects neurons from ischemic damage by decreasing mitochondrial translocation of the fission promoter Drp1
    Yanxin Zhao, Fangzhe Chen, Shufen Chen, Xueyuan Liu, Mei Cui, Qiang Dong · 2013 · Journal of Neurochemistry
  44. A French family with Charcot–Marie–Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations
    Anne Vital, Philippe Latour, Guilhem Solé, Xavier Ferrer, Marie Rouanet, François Tison, Claude Vital, Cyril Goizet · 2012 · Neuromuscular Disorders
  45. Comparison of CMT1A and CMT2: similarities and differences
    Henriette M.E. Bienfait, Camiel Verhamme, Ivo N. van Schaik, Johannes H.T.M. Koelman, B.W. Ongerboer de Visser, Rob J. de Haan, Frank Baas, Baziel G.M. van Engelen, Marianne de Visser · 2006 · Journal of Neurology
  46. Cross Talk of Proteostasis and Mitostasis in Cellular Homeodynamics, Ageing, and Disease
    Sentiljana Gumeni, Ioannis P. Trougakos · 2016 · Oxidative Medicine and Cellular Longevity
  47. Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies
    Mansour Haidar, Vincent Timmerman · 2017 · Frontiers in Molecular Neuroscience
  48. Axonal and neuronal degeneration in myelin diseases
    Nobuhiko Ohno, Kazuhiro Ikenaka · 2018 · Neuroscience Research
  49. Mitochondrial biogenesis is altered in HIV+ brains exposed to ART: Implications for therapeutic targeting of astroglia
    Mary K. Swinton, Aliyah Carson, Francesca Telese, Ana Beatriz Sánchez, Benchawanna Soontornniyomkij, Leila Rad, Isabella B. Batki, Brandi Quintanilla, Josué Pérez‐Santiago, Cristian L. Achim et al. · 2019 · Neurobiology of Disease
  50. S-nitrosylation of Cdk5
    Jing Tao Qu, Tomohiro Nakamura, Emily A. Holland, Scott R. McKercher, Stuart A. Lipton · 2012 · Prion
  51. Therapeutic Strategies for the Inherited Neuropathies
    Michael E. Shy · 2006 · NeuroMolecular Medicine
  52. Autosomal‐recessive and X‐linked forms of hereditary motor and sensory neuropathy in childhood
    Robert Ouvrier, Nimeshan Geevasingha, Monique M. Ryan · 2007 · Muscle & Nerve
  53. Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies
    Kinga Szigeti, Eva Nelis, James R. Lupski · 2006 · NeuroMolecular Medicine
  54. The mitochondrial outer membrane protein hFis1 regulates mitochondrial morphology and fission through self-interaction
    Madhavika N. Serasinghe, Yisang Yoon · 2008 · Experimental Cell Research
  55. A missense mutation in the murine Opa3 gene models human Costeff syndrome
    V. Davies, Kate A. Powell, Kathryn White, W. Yip, Vanessa E. Hogan, Andrew J. Hollins, Jennifer R. Davies, Malgorzata J. Piechota, David G. Brownstein, Stuart J. Moat et al. · 2008 · Brain
  56. Decreasing Mitochondrial Fission Prevents Cholestatic Liver Injury
    Tianzheng Yu, Li Wang, Hakjoo Lee, Dawn K. O'Brien, Steven F. Bronk, Gregory James Gores, Yisang Yoon · 2014 · Journal of Biological Chemistry
  57. Mitochondria: Joining forces to thwart cell death
    Arezu Jahani‐Asl, Marc Germain, Ruth S. Slack · 2009 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
  58. Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and Muscle
    Peter G. C. Bannerman, Travis Burns, Jie Xu, Laird A. Miers, David Pleasure · 2016 · PLoS ONE
  59. Prohibitin is a positive modulator of mitochondrial function in PC 12 cells under oxidative stress
    Corey J. Anderson, Anja Kahl, Liping Qian, Анна Степанова, Anatoly A. Starkov, Giovanni Manfredi, Costantino Iadecola, Ping Zhou · 2018 · Journal of Neurochemistry
  60. Chapter 16 Monitoring Mitochondrial Dynamics with Photoactivateable Green Fluorescent Protein
    Anthony J. A. Molina, Orian S. Shirihai · 2009 · Methods in enzymology on CD-ROM/Methods in enzymology
  61. Pathogenesis and Treatment of Mitochondrial Disorders
    Salvatore DiMauro, Michio Hirano · 2009 · Advances in experimental medicine and biology
  62. The Role of Mitochondrial Network Dynamics in the Pathogenesis of Charcot-Marie-Tooth Disease
    Francesc Palau, Anna Estela, David Pla‐Martín, Maribel Sánchez‐Piris · 2009 · Advances in experimental medicine and biology
  63. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures
    Nurit Assia Batzir, Pranjali Bhagwat, Tanya N. Eble, Pengfei Liu, Christine M. Eng, Sarah H. Elsea, Laurie A. Robak, Fernando Scaglia, Alica M. Goldman, Shweta U. Dhar et al. · 2019 · Molecular Case Studies
  64. 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
  65. Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2
    Donald S. McCorquodale, Gladys Montenegro, Ainsley Peguero, Nicole Carlson, Fiorella Speziani, Justin H. Price, Sean W. Taylor, Michel Melanson, Jeffery M. Vance, Stephan L. Zuchner · 2011 · Journal of Neurology
  66. Mitochondria and Peripheral Neuropathies
    Anne Vital, Claude Vital · 2012 · Journal of Neuropathology & Experimental Neurology
  67. Direct Substrate Delivery Into Mitochondrial Fission–Deficient Pancreatic Islets Rescues Insulin Secretion
    Uma Dhiraj Kabra, Katrin Pfuhlmann, Adriana Migliorini, Susanne Keipert, Daniel Lamp, Olle Korsgren, Moritz Gegg, Stephen C. Woods, Paul T. Pfluger, Heiko Lickert et al. · 2017 · Diabetes
  68. Surveillance and transportation of mitochondria in neurons
    Roeland Vanhauwaert, Vinita Bharat, Xinnan Wang · 2019 · Current Opinion in Neurobiology
  69. Genetic modifiers and non-Mendelian aspects of CMT
    Dana M. Bis‐Brewer, Sarah Fazal, Stephan L. Zuchner · 2019 · Brain Research
  70. Mitochondrial Dynamics in Peripheral Neuropathies
    Marija Sajic · 2014 · Antioxidants and Redox Signaling
  71. Axonal Charcot–Marie–Tooth disease
    Michael E. Shy, Ágnes Patzkó · 2011 · Current Opinion in Neurology
  72. Mitochondrial Dynamics and Insulin Secretion
    Uma Dhiraj Kabra, Martin Jastroch · 2023 · International Journal of Molecular Sciences
  73. Dysregulation of axonal transport and motorneuron diseases
    Daniela Sau, P. Rusmini, V. Crippa, Elisa Onesto, Elena Bolzoni, Antonia Ratti, Angelo Poletti · 2011 · Biology of the Cell
  74. Charcot-Marie-Tooth-related Gene GDAP1 Complements Cell Cycle Delay at G2/M Phase in Saccharomyces cerevisiae fis1 Gene-defective Cells
    Anna Estela, David Pla‐Martín, Maribel Sánchez‐Piris, Hiromi Sesaki, Francesc Palau · 2011 · Journal of Biological Chemistry
  75. Genetic axonal neuropathies and neuronopathies of pre‐natal and infantile onset
    Eppie Mildred Yiu, Monique M. Ryan · 2012 · Journal of the Peripheral Nervous System
  76. Structural basis for membrane tethering by a bacterial dynamin-like pair
    Jiwei Liu, Jeffrey K. Noel, Harry H. Low · 2018 · Nature Communications
  77. Mitochondrial Dynamics and Mitophagy in the 6-Hydroxydopamine Preclinical Model of Parkinson's Disease
    María Francisca Galindo, María E. Solesio, Sandra Atienzar‐Aroca, Maria J. Zamora, Joaquı́n Jordán · 2012 · Parkinson s Disease
  78. Mitochondrial neuropathy
    Josef Finsterer · 2004 · Clinical Neurology and Neurosurgery
  79. Chemical inhibition of mitochondrial fission via targeting the DRP1-receptor interaction
    Jun Yang, Peihao Chen, Yu Cao, Shanshan Liu, Wei Wang, Lin Li, Jiaojiao Li, Zhaodi Jiang, Yan Ma, She Chen et al. · 2023 · Cell chemical biology
  80. Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives
    Claudia Alberti, Federica Rizzo, Alessia Anastasia, Giacomo P. Comi, Stefania Paola Corti, Elena Abati · 2024 · Neurobiology of Disease
  81. Mitochondrial dynamics
    Margherita Milone, Eduardo Elias Benarroch · 2012 · Neurology
  82. Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
    Friederike Werheid, Hamid Azzedine, E Zwerenz, Ahmet Bozkurt, Marcus Johannes Moeller, Lilian Tsai‐Wei Lin, Michael Mull, Martin Häusler, Jörg Bernhard Schulz, Joachim Weis et al. · 2016 · Brain and Behavior
  83. Hypertonia-linked protein Trak1 functions with mitofusins to promote mitochondrial tethering and fusion
    Crystal A. Lee, Lih‐Shen Chin, Lian Li · 2017 · Protein & Cell
  84. Remodeling of mitochondrial morphology and function: an emerging hallmark of cellular reprogramming
    Anuj Rastogi, Piyush K. Joshi, Ela Contreras, Vivian Gama · 2019 · Cell Stress
  85. Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease
    Virginie Guillet, Naïg Guéguen, Christophe Verny, Marc Ferré, Chadi Homedan, Dominique Loiseau, Vincent Procaccio, Patrizia Amati‐Bonneau, Dominique Bonneau, Pascal Reynier et al. · 2009 · Neurogenetics
  86. A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease
    Paschalis Nicolaou, Carlo Cianchetti, Anna Minaidou, Giovanni Marrosu, Eleni Zamba‐Papanicolaou, Lefkos T. Middleton, Kyproula Christodoulou · 2012 · European Journal of Human Genetics
  87. Molecular genetic and clinical aspects of mitochondrial disorders in childhood
    Ali‐Reza Moslemi, Niklas Darín · 2007 · Mitochondrion
  88. Age decreases mitochondrial motility and increases mitochondrial size in vascular smooth muscle
    Susan Chalmers, Christopher D. Saunter, John M. Girkin, John G. McCarron · 2016 · The Journal of Physiology
  89. Regulation of Mitofusin1 by Mahogunin Ring Finger-1 and the proteasome modulates mitochondrial fusion
    Rukmini Mukherjee, Oishee Chakrabarti · 2016 · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
  90. Cdc48 regulates a deubiquitylase cascade critical for mitochondrial fusion
    Tânia Simões, Ramona Schuster, Fabian den Brave, Mafalda Escobar‐Henriques · 2018 · eLife
  91. Studying Spatial Protein Quality Control, Proteopathies, and Aging Using Different Model Misfolding Proteins in S. cerevisiae
    Kara L. Schneider, Thomas Nyström, Per O. Widlund · 2018 · Frontiers in Molecular Neuroscience
  92. Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination
    Amandine Duchesne, Anne Vaiman, Magali Frah, Sandrine Floriot, Sabrina Rodriguez, Anne Desmazières, Sébastien Fritz, Christian Beauvallet, Olivier Albaric, Éric Venot et al. · 2018 · PLoS Genetics
  93. ‘Inside Out’– a dialogue between mitochondria and bacteria
    Bing Han, Chih-Chun Lin, Guo Hu, Meng Carla Wang · 2018 · FEBS Journal
  94. Neuroglobin and mitochondria: The impact on neurodegenerative diseases
    Marco Fiocchetti, Patrizio Cracco, Emiliano Montalesi, Virginia Solar Fernandez, Jeffrey Alan Stuart, Maria Marino · 2021 · Archives of Biochemistry and Biophysics
  95. Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis
    Kathrin Huehne, Christiane Zweier, Klaus Raab, Sylvie Odent, Martine Bonnaure‐Mallet, Jean-louis Sixou, P. Landrieu, Cyril Goizet, Jean Sarlangue, Matthias Baumann et al. · 2008 · Neuromuscular Disorders
  96. Peripheral neuropathy associated with mitochondrial disease in children
    Manoj P. Menezes, Robert Ouvrier · 2012 · Developmental Medicine & Child Neurology
  97. Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland
    M. Auranen, E. Ylikallio, J. Toppila, M. Somer, Sari M. Kiuru-Enari, H. Tyynismaa · 2013 · Neurogenetics
  98. A role for the GDAP1 gene in the molecular pathogenesis of Charcot-Marie-Tooth disease
    Weronika Rzepnikowska, Andrzej Kochański · 2018 · Acta Neurobiologiae Experimentalis
  99. Insights into the genotype-phenotype correlation and molecular function of SLC25A46
    Alexander J. Abrams, Flavia Fontanesi, Natalie B. Tan, Elena Buglo, Ion John Campeanu, Adriana P. Rebelo, Andrew J. Kornberg, Dean Phelan, Zornitza Stark, Stephan L. Zuchner · 2018 · Human Mutation
  100. Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen in Drosophila
    Samantha L. Deal, Shinya Yamamoto · 2019 · Frontiers in Genetics