Grups d'Investigació

GIUV2015-258

The group focuses its efforts on unravelling the pathophysiological mechanisms of rare diseases, mainly progeroid processes and neuromuscular diseases. This research helps to understand the process of organic ageing. We have provided a new animal model of Charcot-Marie-Tooth disease and contributed to a better understanding of the relationship between oxidative stress and gene regulation mechanisms modulated by epigenetic factors. Down's syndrome, the disease that most frequently develops mental deficiency, has also been approached from the perspective of changes in cell turnover processes, contributing to elucidating its pathophysiology. In Lafora disease, which has a poor prognosis, we have described the presence of oxidative stress and the lack of antioxidant defence.

http://www.incliva.es/investigacion/areas/metabolismo/grupo-de-investigacion-en-fisiopatologia-celular-y-organica-del-estres-

• Estudio del estres oxidativo y la regulacion epigenetica inducida en las enfermedades raras

• Pathophysiology of Fanconi anemia and Friedreich ataxia.Pathophysiology of Fanconi's anaemia and Friedreich's ataxia.
• Study of oxidative stress and mechanisms of DNA repair in different progeroid syndromes and genodermatosis.Study of oxidative stress and DNA repair mechanisms in different progeroid syndromes and genodermatoses.
• Epigenetic regulation in the physiopathology of rare diseases.Study of oxidative stress and DNA repair mechanisms in different progeroid syndromes and genodermatoses.

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• Physiology

• Enfermedades raras, estrés oxidativo, epidemiología