,optineurin

Hirofumi Maruyama1, Hiroyuki Morino, Hidefumi Ito

  • 1Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima 734-8553, Japan.

Nature
|April 30, 2010
PubMed
概括

选择性尿素 (OPTN) 基因的突变与肌缩性侧面硬化症 (ALS) 的发病有关. OPTN突变破坏了核因子kappa B (NF-kappaB) 的调节,这表明ALS的新治疗点.