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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Hlavní autoři: Vernia, Santiago, Rubio, Teresa, Heredia, Miguel, de Córdoba, Santiago Rodríguez, Sanz, Pascual
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2009
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2692001/
https://ncbi.nlm.nih.gov/pubmed/19529779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0005907
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