Article
Mutations in NHLRC1 cause progressive myoclonus epilepsy.
Nature genetics - 1 Oct 2003
Chan Elayne M, Young Edwin J, Ianzano Leonarda, Munteanu Iulia, Zhao Xiaochu, 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 excerpt
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...
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