Journal
NATURE GENETICS
Volume 35, Issue 2, Pages 125-127Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1238
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- Telethon [GFP01003] Funding Source: Medline
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Lafora progressive myoclonus epilepsy is characterized by pathognomonic endoplasmic reticulum (ER)-associated polyglucosan accumulations. We previously discovered that mutations in EPM2A cause Lafora disease. Here, we identify a second gene associated with this disease, NHLRC1 ( also called EPM2B), which encodes malin, a putative E3 ubiquitin ligase with a RING finger domain and six NHL motifs. Laforin and malin colocalize to the ER, suggesting they operate in a related pathway protecting against polyglucosan accumulation and epilepsy.
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