Visualitzant per matèria "Lafora disease"

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    • Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora 

      Pellegrini, Pasquale; Hervera, Arnau; Varea, Olga; Brewer, M. Kathryn; López Soldado, Iliana; Guitart, Anna; Aguilera, Mònica; Prats, Neus; del Río, José Antonio; Guinovart, Joan; Duran Castells, Jordi (Molecular Neurobiology 2022, 59, 1214-1229, 2022)
      Lafora disease (LD) is a fatal childhood-onset dementia characterized by the extensive accumulation of glycogen aggregates—the so-called Lafora Bodies (LBs)—in several organs. The accumulation of LBs ...

    • Malin restoration as proof of concept for gene therapy for Lafora disease 

      Varea, Olga; Guinovart, Joan; Duran Castells, Jordi (Brain Communications 2022, 4(4), fcac168, 2022)
      Lafora disease is a fatal neurodegenerative childhood dementia caused by loss-of-function mutations in either the laforin or malin gene. The hallmark of the disease is the accumulation of abnormal ...