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Lafora disease offers a unique window into neuronal glycogen metabolism
Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD develop cytoplasmic, aberrant glycogen inclus...
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| Publicado no: | J Biol Chem |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Biochemistry and Molecular Biology
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5949988/ https://ncbi.nlm.nih.gov/pubmed/29483193 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.R117.803064 |
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