Cargando…
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...
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 |
Ejemplares similares
-
Laforin, the most common protein mutated in Lafora disease, regulates autophagy
por: Aguado, Carmen, et al.
Publicado: (2010) -
Laforin, a Dual Specificity Phosphatase Involved in Lafora Disease, Is Present Mainly as Monomeric Form with Full Phosphatase Activity
por: Dukhande, Vikas V., et al.
Publicado: (2011) -
Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy
por: Mitra, Sharmistha, et al.
Publicado: (2023) -
Dimerization of the Glucan Phosphatase Laforin Requires the Participation of Cysteine 329
por: Sánchez-Martín, Pablo, et al.
Publicado: (2013) -
Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level
por: Romá-Mateo, Carlos, et al.
Publicado: (2011)