Article
Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells.
The FEBS journal - 1 Jul 2012
Zeng Li, Wang Yin, Baba Otto, Zheng Pan, Liu Yang, Liu Yan
Abstract excerpt
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 in humans. Lafora disease is a fatal neurological disorder characterized by progressive myoclonus epilepsy, severe neurological deterioration and accumulation of poorly branched glycogen inclusions, called Lafora bodies or polyglucosan...
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