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Laforin is Required for the Functional Activation of Malin in Endoplasmic Reticulum Stress Resistance in Neuronal Cells
Mutations in either EPM2A, the gene encoding a dual-specificity phosphatase named laforin, or NHLRC1, the gene encoding an E3 ubiquitin ligase named malin, cause Lafora disease (LD) in humans. LD is a fatal neurological disorder characterized by progressive myoclonus epilepsy, severe neurological de...
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| Main Authors: | , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2012
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3407668/ https://ncbi.nlm.nih.gov/pubmed/22578008 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1742-4658.2012.08627.x |
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