Mutations in NHLRC1 cause progressive myoclonus epilepsy

被引：230

作者：

Chan, EM

Young, EJ

Ianzano, L

Munteanu, I

Zhao, XC

Christopoulos, CC

Avanzini, G

Elia, M

Ackerley, CA

Jovic, NJ

Bohlega, S

Andermann, E

Rouleau, GA

Delgado-Escueta, AV

Minassian, BA

Scherer, SW

机构：

[1] Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, Canada

[2] Univ Toronto, Dept Mol & Med Genet, Toronto, ON M5G 1X8, Canada

[3] Inst Nazl Neurol, I-20133 Milan, Italy

[4] Oasi Inst Res Mental Retardat & Brain Aging, Dept Neurol, I-94018 Troina, Italy

[5] Hosp Sick Children, Dept Pathol & Lab Med, Toronto, ON M5G 1X8, Canada

[6] Clin Neurol & Psychiat Children & Youth, YU-11000 Belgrade, Serbia Monteneg, Serbia

[7] King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Riyadh 11211, Saudi Arabia

[8] McGill Univ, Montreal Neurol Inst, Neurogenet Unit, Montreal, PQ H3A 2B4, Canada

[9] McGill Univ, Montreal Gen Hosp, Ctr Hlth, Res Inst Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada

[10] Univ Calif Los Angeles, Sch Med, W Los Angeles DVA Med Ctr, Dept Neurol,Comprehens Epilepsy Program, Los Angeles, CA 90073 USA

[11] Univ Calif Los Angeles, Sch Med, W Los Angeles DVA Med Ctr, Brain Res Inst, Los Angeles, CA 90073 USA

[12] Hosp Sick Children, Dept Pediat, Div Neurol, Toronto, ON M5G 1X8, Canada

来源：

NATURE GENETICS | 2003年 / 35卷 / 02期

关键词：

D O I：

10.1038/ng1238

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：125 / 127

页数：3

共 17 条

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