期刊
TRENDS IN NEUROSCIENCES
卷 42, 期 9, 页码 631-643出版社
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tins.2019.05.010
关键词
-
资金
- Intramural Research Program of the National Human Genome Research Institute
- National Institutes of Health (USA)
- NINDS Competitive Postdoctoral Fellowship Award
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [ZIAHG200336] Funding Source: NIH RePORTER
Homozygous and heterozygous mutations in GBA1, the gene implicated in Gaucher disease, increase the risk and severity of Parkinson disease (PD). We evaluated the design, phenotype, strengths, and limitations of current GBA1-associated PD mouse models. Although faithful modeling of a genetic risk factor poses many challenges, the different approaches taken were successful in revealing predisposing abnormalities in heterozygotes for GBA1 mutations and demonstrating the deleterious effects of GBA1 impairment on the PD course in PD models. GBA1-PD models differ in key parameters, with no single model recapitulating all aspects of the GBA1-PD puzzle, emphasizing the importance of selecting the proper in vivo model depending on the specific molecular mechanism or potential therapy being studied.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据