戈谢病与帕金森病的分子关联理论。
Gaucher disease and parkinsonism, a molecular link theory.
机构信息
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA.
出版信息
Mol Genet Metab. 2010 Dec;101(4):307-10. doi: 10.1016/j.ymgme.2010.08.004. Epub 2010 Aug 10.
Abstract
Mutant GBA was found recently to be the most prevalent risk factor for familial parkinsonism. The two diseases do not share common symptoms and there is no direct pathway to explain the mechanism by which GBA mutations can confer the risk. Increased burden on the degradative pathway caused by defective glucocerebrosidase, or toxic side effects of glycosylated lipids accumulation were proposed to explain brain damage. Both hypotheses are not sufficient to explain the linkage. In order to develop a more inclusive theory we introduced into the model the prion theory and the second hit. Other possibilities are also brought into consideration.
摘要
最近发现，突变 GBA 是家族性帕金森病最常见的风险因素。这两种疾病没有共同的症状，也没有直接的途径可以解释 GBA 突变如何带来风险。有人提出，葡萄糖脑苷脂酶缺陷导致降解途径负担增加，或糖基化脂质积累的毒性副作用，可能导致大脑损伤。这两种假说都不足以解释这种关联。为了提出一个更具包容性的理论，我们将朊病毒理论和二次打击引入到模型中。同时也考虑了其他可能性。
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本文引用的文献
1
The role of the lipid bilayer in tau aggregation.脂双层在 tau 聚集中的作用。
Biophys J. 2010 Jun 2;98(11):2722-30. doi: 10.1016/j.bpj.2010.03.013.
2
The propagation of prion-like protein inclusions in neurodegenerative diseases.朊病毒样蛋白在神经退行性疾病中的传播。
Trends Neurosci. 2010 Jul;33(7):317-25. doi: 10.1016/j.tins.2010.04.003. Epub 2010 May 20.
3
Prion-like disorders: blurring the divide between transmissibility and infectivity.朊病毒样疾病：传染性与感染性之间的界限日益模糊。
J Cell Sci. 2010 Apr 15;123(Pt 8):1191-201. doi: 10.1242/jcs.051672.
4
Brain alpha-synuclein accumulation in multiple system atrophy, Parkinson's disease and progressive supranuclear palsy: a comparative investigation.脑内 α-突触核蛋白在多系统萎缩、帕金森病和进行性核上性麻痹中的蓄积：一项比较性研究。
Brain. 2010 Jan;133(Pt 1):172-88. doi: 10.1093/brain/awp282. Epub 2009 Nov 10.
5
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.帕金森病中葡萄糖脑苷脂酶突变的多中心分析。
N Engl J Med. 2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281.
6
Immune cell types involved in early uptake and transport of recombinant mouse prion protein in Peyer's patches of calves.牛派尔集合淋巴结中早期摄取和转运重组鼠朊蛋白相关的免疫细胞类型。
Cell Tissue Res. 2009 Dec;338(3):343-54. doi: 10.1007/s00441-009-0879-6. Epub 2009 Oct 16.
7
Investigating bacterial sources of toxicity as an environmental contributor to dopaminergic neurodegeneration.研究毒性的细菌来源，将其视为导致多巴胺能神经退行性变的环境因素之一。
PLoS One. 2009 Oct 6;4(10):e7227. doi: 10.1371/journal.pone.0007227.
8
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9
Inclusion formation and neuronal cell death through neuron-to-neuron transmission of alpha-synuclein.通过α-突触核蛋白在神经元间的传递形成包涵体并导致神经元细胞死亡。
Proc Natl Acad Sci U S A. 2009 Aug 4;106(31):13010-5. doi: 10.1073/pnas.0903691106. Epub 2009 Jul 27.
10
Recommendations on the diagnosis and management of Niemann-Pick disease type C.尼曼-匹克病C型的诊断与管理建议。
Mol Genet Metab. 2009 Sep-Oct;98(1-2):152-65. doi: 10.1016/j.ymgme.2009.06.008. Epub 2009 Jun 14.
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