PASCUAL SANZ BIGORRA

Pascual Sanz Bigorra
Instituto de Biomedicina de Valencia, CSIC
Valencia (Spain)

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We are interested in studying the molecular basis of Lafora disease, a rare form of progressive myoclonus epilepsy characterized by the accumulation of aberrant forms of insoluble glycogen in the brain, which leads to neuroinflammation and neurodegeneration. We have reported that proteostasis is affected in this disease as a consequence of proteasome and autophagy impairment.

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