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Increased Endoplasmic Reticulum Stress and Decreased Proteasomal Function in Lafora Disease Models Lacking the Phosphatase Laforin

BACKGROUND: Lafora progressive myoclonus epilepsy (Lafora disease; LD) is a fatal autosomal recessive neurodegenerative disorder caused by loss-of-function mutations in either the EPM2A gene, encoding the dual specificity phosphatase laforin, or the EPM2B gene, encoding the E3-ubiquitin ligase malin...

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Detalles Bibliográficos
Autores principales: Vernia, Santiago, Rubio, Teresa, Heredia, Miguel, de Córdoba, Santiago Rodríguez, Sanz, Pascual
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2692001/
https://www.ncbi.nlm.nih.gov/pubmed/19529779
http://dx.doi.org/10.1371/journal.pone.0005907