Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease
Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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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). The leading LD hypothesis that hyperphosphoryla...
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Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease
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TN_cdi_doaj_primary_oai_doaj_org_article_a2b1331cf25e4a71adbb2ac75bba0a1b
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a2b1331cf25e4a71adbb2ac75bba0a1b
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ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.15252/emmm.201707608
