Mutations in NHLRC1 cause progressive myoclonus epilepsy.

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.

• Authors: Elayne M Chan, Edwin J Young, Leonarda Ianzano, Iulia Munteanu, Xiaochu Zhao, Constantine C Christopoulos, Giuliano Avanzini, Maurizio Elia, Cameron A Ackerley, Nebojsa J Jovic, Saeed Bohlega, Eva Andermann, Guy A Rouleau, Antonio V Delgado-Escueta, Berge A Minassian, Stephen W Scherer
• Journal: Nature genetics (Nat Genet) Vol. 35 Issue 2 Pg. 125-7 (Oct 2003) ISSN: 1061-4036 [Print] United States
• PMID: 12958597 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Carrier Proteins
• NHLRC1 protein, human
• Ubiquitin-Protein Ligases
• Protein Tyrosine Phosphatases
• Protein Tyrosine Phosphatases, Non-Receptor
• EPM2A protein, human

Topics

• Base Sequence
• Carrier Proteins (genetics)
• Cohort Studies
• Female
• Homozygote
• Humans
• Lafora Disease (genetics)
• Male
• Molecular Sequence Data
• Mutation
• Myoclonic Epilepsies, Progressive (enzymology, genetics)
• Pedigree
• Protein Tyrosine Phosphatases (genetics)
• Protein Tyrosine Phosphatases, Non-Receptor
• Sequence Deletion
• Ubiquitin-Protein Ligases