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Therapeutic approaches for the treatment of Friedreich’s ataxia

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David R Lynch, Kim Schadt, Elizabeth Kichula, Shana McCormack & Kimberly Y Lin. (2021) Friedreich Ataxia: Multidisciplinary Clinical Care. Journal of Multidisciplinary Healthcare 14, pages 1645-1658.
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Cassandra Strawser, Kimberly Schadt, Lauren Hauser, Ashley McCormick, McKenzie Wells, Jane Larkindale, Hong Lin & David R. Lynch. (2017) Pharmacological therapeutics in Friedreich ataxia: the present state. Expert Review of Neurotherapeutics 17:9, pages 895-907.
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Elisabetta Soragni & Joel M. Gottesfeld. (2016) Translating HDAC inhibitors in Friedreich’s ataxia. Expert Opinion on Orphan Drugs 4:9, pages 961-970.
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Charles J Isaacs, Julianna E Shinnick, Kimberly Schadt, David R Lynch & Kimberly Y Lin. (2015) Prospects of gene and cell therapy for managing cardiac complications in Friedreich ataxia. Expert Opinion on Orphan Drugs 3:10, pages 1183-1196.
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Articles from other publishers (32)

David R. Lynch, Teerapat Rojsajjakul, S. H. Subramony, Susan L. Perlman, Medina Keita, Clementina Mesaros & Ian A. Blair. (2023) Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort. Journal of Neurology.
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Simge Kelekçi, Abdullah Burak Yıldız, Kenan Sevinç, Deniz Uğurlu Çimen & Tamer Önder. (2022) Perspectives on current models of Friedreich’s ataxia. Frontiers in Cell and Developmental Biology 10.
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Aloka B. Bandara, Joshua C. Drake & David A. Brown. (2021) Complex II subunit SDHD is critical for cell growth and metabolism, which can be partially restored with a synthetic ubiquinone analog. BMC Molecular and Cell Biology 22:1.
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Aloka B. Bandara, Joshua C. Drake, Carissa C. James, James W. Smyth & David A. Brown. (2021) Complex I protein NDUFS2 is vital for growth, ROS generation, membrane integrity, apoptosis, and mitochondrial energetics. Mitochondrion 58, pages 160-168.
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Bernice Frempong, Robert B. Wilson, Kimberly Schadt & David R. Lynch. (2021) The Role of Serum Levels of Neurofilament Light (NfL) Chain as a Biomarker in Friedreich Ataxia. Frontiers in Neuroscience 15.
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Joseph Jankovic, Mark Hallett, Michael S. Okun, Cynthia Comella, Stanley Fahn & Jennifer Goldman. 2021. Principles and Practice of Movement Disorders. Principles and Practice of Movement Disorders 523 536.e7 .
Julia O. Misiorek, Anna M. Schreiber, Martyna O. Urbanek-Trzeciak, Magdalena Jazurek-Ciesiołka, Lauren A. Hauser, David R. Lynch, Jill S. Napierala & Marek Napierala. (2020) A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich’s Ataxia Patients. Molecular Neurobiology 57:6, pages 2639-2653.
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Shannon Chiang, Danuta S. Kalinowski, Mahendiran Dharmasivam, Nady Braidy, Des R. Richardson & Michael L.H. Huang. (2020) The potential of the novel NAD+ supplementing agent, SNH6, as a therapeutic strategy for the treatment of Friedreich’s ataxia. Pharmacological Research 155, pages 104680.
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Chiara Martinelli, Carlotta Pucci, Matteo Battaglini, Attilio Marino & Gianni Ciofani. (2019) Antioxidants and Nanotechnology: Promises and Limits of Potentially Disruptive Approaches in the Treatment of Central Nervous System Diseases. Advanced Healthcare Materials 9:3, pages 1901589.
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Joel M. Gottesfeld. (2019) Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia. Neurotherapeutics 16:4, pages 1032-1049.
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Peter D. Creigh, Joan Mountain, Janet E. Sowden, Katy Eichinger, Bernard Ravina, Jane Larkindale & David N. Herrmann. (2019) Measuring peripheral nerve involvement in Friedreich’s ataxia. Annals of Clinical and Translational Neurology 6:9, pages 1718-1727.
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Krystel L. Woolley, Monila Nadikudi, Mitra N. Koupaei, Monika Corban, Paul McCartney, Alex C. Bissember, Trevor W. Lewis, Nuri Gueven & Jason A. Smith. (2019) Amide linked redox-active naphthoquinones for the treatment of mitochondrial dysfunction. MedChemComm 10:3, pages 399-412.
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Stephanie Salabarria, Barry J. Byrne, Cristina Liberati & Manuela Corti. 2019. Muscle Gene Therapy. Muscle Gene Therapy 579 596 .
Elisia ClarkJoseph JohnsonYi Na DongElizabeth Mercado-AyonNathan WarrenMattieu ZhaiEmily McMillanAmy SalovinHong LinDavid R. Lynch. (2018) Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease. Neuronal Signaling 2:4.
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David R. Lynch, Elizabeth Kichula & Hong Lin. (2018) Frataxin Restoration in the Nervous System: Possibilities for Gene Therapy. Molecular Therapy 26:8, pages 1880-1882.
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David R. Lynch, Ashley McCormick, Kimberly Schadt & Elizabeth Kichula. (2018) Pediatric Ataxia: Focus on Chronic Disorders. Seminars in Pediatric Neurology 25, pages 54-64.
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Ignacio Hugo Castro, Alejandro Ferrari, María Georgina Herrera, Martín Ezequiel Noguera, Lorenzo Maso, Monica Benini, Alessandra Rufini, Roberto Testi, Paola Costantini & Javier Santos. (2018) Biophysical characterisation of the recombinant human frataxin precursor. FEBS Open Bio 8:3, pages 390-405.
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Lucia Montenegro, Rita Turnaturi, Carmela Parenti & Lorella Pasquinucci. (2018) Idebenone: Novel Strategies to Improve Its Systemic and Local Efficacy. Nanomaterials 8:2, pages 87.
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Vijayendran Chandran, Kun Gao, Vivek Swarup, Revital Versano, Hongmei Dong, Maria C Jordan & Daniel H Geschwind. (2017) Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia. eLife 6.
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Monica Benini, Silvia Fortuni, Ivano Condò, Giulia Alfedi, Florence Malisan, Nicola Toschi, Dario Serio, Damiano Sergio Massaro, Gaetano Arcuri, Roberto Testi & Alessandra Rufini. (2017) E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia. Cell Reports 18:8, pages 2007-2017.
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Julianna E. Shinnick, Charles J. Isaacs, Sharon Vivaldi, Kimberly Schadt & David R. Lynch. (2016) Friedreich Ataxia and nephrotic syndrome: a series of two patients. BMC Neurology 16:1.
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Antonio Costantini, Tiziana Laureti, Maria Immacolata Pala, Marco Colangeli, Simona Cavalieri, Elisa Pozzi, Alfredo Brusco, Sandro Salvarani, Carlo Serrati & Roberto Fancellu. (2016) Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia. Journal of Neurology 263:11, pages 2170-2178.
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Maya Patel, Charles J. Isaacs, Lauren Seyer, Karlla Brigatti, Sarah Gelbard, Cassandra Strawser, Debbie Foerster, Julianna Shinnick, Kimberly Schadt, Eppie M. Yiu, Martin B. Delatycki, Susan Perlman, George R. Wilmot, Theresa Zesiewicz, Katherine Mathews, Christopher M. Gomez, Grace Yoon, Sub H. Subramony, Alicia Brocht, Jennifer Farmer & David R. Lynch. (2016) Progression of Friedreich ataxia: quantitative characterization over 5 years. Annals of Clinical and Translational Neurology 3:9, pages 684-694.
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J.A. Serra, E.R. Marschoff & R.O. Domínguez. (2016) Oxidative stress in neurological disease: Is it the cause, consequence, or trigger of a chronic progressive form?. Neurología (English Edition) 31:6, pages 420-421.
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J.A. Serra, E.R. Marschoff & R.O. Domínguez. (2016) Estrés oxidativo en la enfermedad neurológica. ¿Es causa, consecuencia o induce una forma crónica progresiva?. Neurología 31:6, pages 420-421.
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Shannon Chiang, Zaklina Kovacevic, Sumit Sahni, Darius J.R. Lane, Angelica M. Merlot, Danuta S. Kalinowski, Michael L.-H. Huang & Des R. Richardson. (2016) Frataxin and the molecular mechanism of mitochondrial iron-loading in Friedreich's ataxia. Clinical Science 130:11, pages 853-870.
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Yurika Katsu-Jiménez, Frida Loría, Juan Carlos Corona & Javier Díaz-Nido. (2016) Gene Transfer of Brain-derived Neurotrophic Factor (BDNF) Prevents Neurodegeneration Triggered by FXN Deficiency. Molecular Therapy 24:5, pages 877-889.
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Genki Hayashi & Gino Cortopassi. (2016) Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia. PLOS ONE 11:4, pages e0153574.
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Yanjie Li, Yue Lu, Urszula Polak, Kevin Lin, Jianjun Shen, Jennifer Farmer, Lauren Seyer, Angela D. Bhalla, Natalia Rozwadowska, David R. Lynch, Jill Sergesketter Butler & Marek Napierala. (2015) Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus . Human Molecular Genetics, pages ddv397.
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Andrew J Worth, Sankha S Basu, Eric C Deutsch, Wei-Ting Hwang, Nathaniel W Snyder, David R Lynch & Ian A Blair. (2015) Stable isotopes and LC–MS for monitoring metabolic disturbances in Friedreich's ataxia platelets. Bioanalysis 7:15, pages 1843-1855.
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Fabio Cherubini, Dario Serio, Ilaria Guccini, Silvia Fortuni, Gaetano Arcuri, Ivano Condò, Alessandra Rufini, Shadman Moiz, Serena Camerini, Marco Crescenzi, Roberto Testi & Florence Malisan. (2015) Src inhibitors modulate frataxin protein levels. Human Molecular Genetics 24:15, pages 4296-4305.
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Agessandro Abrahão, José Luiz Pedroso, Pedro Braga-Neto, Edson Bor-Seng-Shu, Patricia de Carvalho Aguiar & Orlando Graziani Povoas Barsottini. (2015) Milestones in Friedreich ataxia: more than a century and still learning. neurogenetics 16:3, pages 151-160.
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