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

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

Abstract 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 bo...

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Bibliographic Details
Main Authors: Felix Nitschke, Mitchell A Sullivan, Peixiang Wang, Xiaochu Zhao, Erin E Chown, Ami M Perri, Lori Israelian, Lucia Juana‐López, Paola Bovolenta, Santiago Rodríguez de Córdoba, Martin Steup, Berge A Minassian
Format: Article
Language:English
Published: Springer Nature 2017-05-01
Series:EMBO Molecular Medicine
Subjects:
glycogen chain length
glycogen phosphorylation
Lafora disease
laforin
malin
Online Access:https://doi.org/10.15252/emmm.201707608
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