Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease

Lafora disease (LD) is a fatal progressive epilepsy essentially caused by loss‐of‐function mutations in the glycogen phosphatase laforin or the ubiquitin E3 ligase malin. Glycogen in LD is hyperphosphorylated and poorly hydrosoluble. It precipitates and accumulates into neurotoxic Lafora bodies (LBs...

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Detalles Bibliográficos
Autores principales: Nitschke, Felix, Sullivan, Mitchell A, Wang, Peixiang, Zhao, Xiaochu, Chown, Erin E, Perri, Ami M, Israelian, Lori, Juana‐López, Lucia, Bovolenta, Paola, Rodríguez de Córdoba, Santiago, Steup, Martin, Minassian, Berge A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494504/
https://www.ncbi.nlm.nih.gov/pubmed/28536304
http://dx.doi.org/10.15252/emmm.201707608

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494504/
https://www.ncbi.nlm.nih.gov/pubmed/28536304
http://dx.doi.org/10.15252/emmm.201707608

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