{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T19:06:09Z","timestamp":1790190369904,"version":"4.1.0"},"reference-count":199,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2020,4,15]],"date-time":"2020-04-15T00:00:00Z","timestamp":1586908800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003359","name":"Generalitat Valenciana","doi-asserted-by":"publisher","award":["PROMETEO\/2018\/135"],"award-info":[{"award-number":["PROMETEO\/2018\/135"]}],"id":[{"id":"10.13039\/501100003359","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Antioxidants"],"abstract":"<jats:p>: Oxidative stress is an imbalance between production and accumulation of oxygen reactive species and\/or reactive nitrogen species in cells and tissues, and the capacity of detoxifying these products, using enzymatic and non-enzymatic components, such as glutathione. Oxidative stress plays roles in several pathological processes in the nervous system, such as neurotoxicity, neuroinflammation, ischemic stroke, and neurodegeneration. The concepts of oxidative stress and rare diseases were formulated in the eighties, and since then, the link between them has not stopped growing. The present review aims to expand knowledge in the pathological processes associated with oxidative stress underlying some groups of rare diseases: Friedreich\u2019s ataxia, diseases with neurodegeneration with brain iron accumulation, Charcot-Marie-Tooth as an example of rare neuromuscular disorders, inherited retinal dystrophies, progressive myoclonus epilepsies, and pediatric drug-resistant epilepsies. Despite the discrimination between cause and effect may not be easy on many occasions, all these conditions are Mendelian rare diseases that share oxidative stress as a common factor, and this may represent a potential target for therapies.<\/jats:p>","DOI":"10.3390\/antiox9040313","type":"journal-article","created":{"date-parts":[[2020,4,15]],"date-time":"2020-04-15T09:19:50Z","timestamp":1586942390000},"page":"313","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":56,"title":["Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4435-1809","authenticated-orcid":false,"given":"Carmen","family":"Espin\u00f3s","sequence":"first","affiliation":[{"name":"Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), 46012 Valencia, Spain"},{"name":"Rare Diseases Joint Unit, CIPF-IIS La Fe, 46026 Valencia, Spain"},{"name":"Rare Diseases Joint Unit, CIPF-INCLIVA, 46010 Valencia, Spain"},{"name":"Instituto de Biomedicina de Valencia (IBV)-CSIC Associated Unit, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), 46010 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1ximo Ibo","family":"Galindo","sequence":"additional","affiliation":[{"name":"Instituto Interuniversitario de Investigaci\u00f3n de Reconocimiento Molecular y Desarrollo Tecnol\u00f3gico (IDM), Universitat Polit\u00e8cnica de Val\u00e8ncia, Universitat de Val\u00e8ncia, 46022 Valencia Spain"},{"name":"Laboratory of Developmental Biology and Disease Models, UPV-CIPF Joint Research Unit Disease Mechanisms and Nanomedicine, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe, 46012 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Adelaida","family":"Garc\u00eda-Gimeno","sequence":"additional","affiliation":[{"name":"Department of Biotechnology, Escuela T\u00e9cnica Superior de Ingenier\u00eda Agron\u00f3mica y del Medio Natural (ETSIAMN), Universitat Polit\u00e8cnica de Val\u00e8ncia, 46022 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Santiago","family":"Ib\u00e1\u00f1ez-Cabellos","sequence":"additional","affiliation":[{"name":"Rare Diseases Joint Unit, CIPF-INCLIVA, 46010 Valencia, Spain"},{"name":"Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Department of Physiology, Faculty of Medicine and Dentistry, Universitat de Val\u00e8ncia (UV), 46010 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dolores","family":"Mart\u00ednez-Rubio","sequence":"additional","affiliation":[{"name":"Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, 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Spain"},{"name":"Pathophysiology and Therapies for Vision Disorders Unit, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), 46012 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascual","family":"Sanz","sequence":"additional","affiliation":[{"name":"Instituto de Biomedicina de Valencia (IBV)-CSIC Associated Unit, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), 46010 Valencia, Spain"},{"name":"Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Nutrient-mediated Signaling Unit, Instituto de Biomedicina de Valencia-CSIC, 46010 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4278-2835","authenticated-orcid":false,"given":"Marta","family":"Seco-Cervera","sequence":"additional","affiliation":[{"name":"Rare Diseases Joint Unit, CIPF-INCLIVA, 46010 Valencia, Spain"},{"name":"Centre for Biomedical Research on 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