一个前循环将高氏病和帕金森病联系起来?
1Gene Expression Unit, Laboratory of Neurogenetics, National Institute on Aging, 35 Convent Drive, Bethesda, MD 20892-3707, USA. cookson@mail.nih.gov
Cell
|July 7, 2011
概括
在GBA基因的突变导致高氏病和增加帕金森病的风险. 葡萄糖大脑糖酶的损失会产生一个反循环,导致 lysosomal 功能不佳和α-synuclein 积累,从而导致神经退行.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 溶酶体储存障碍 溶酶体储存障碍
背景情况:
- 氏病是由GBA基因的突变引起的,GBA基因编码的酶是葡萄糖脑酶.
- GBA突变是患帕金森病的已知危险因素.
- 戈舍病和帕金森病之间的精确分子联系仍然不完全理解.
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