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- Title
Mutations in NHLRC1 cause progressive myoclonus epilepsy.
- Authors
Elayne M Chan; Edwin J Young; Ianzano, Leonarda; Munteanu, Iulia; Xiaochu Zhao; Christopoulos, Constantine C.; Avanzini, Giuliano; Elia, Maurizio; Ackerley, Cameron A.; Jovic, Nebojsa J.; Bohlega, Saeed; Andermann, Eva; Rouleau, Guy A.; Delgado-Escueta, Antonio V.; Minassian, Berge A.; Scherer, Stephen W.
- Abstract
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.
- Publication
Nature Genetics, 2003, Vol 35, Issue 2, p125
- ISSN
1061-4036
- Publication type
Academic Journal
- DOI
10.1038/ng1238