Toffoli Marco, Smith Laura, Schapira Anthony H V
Department of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, UK.
J Neurochem. 2020 Jul;154(1):11-24. doi: 10.1111/jnc.14968. Epub 2020 Feb 3.
The discovery of genes involved in familial as well as sporadic forms of Parkinson disease (PD) constitutes an important milestone in understanding this disorder's pathophysiology and potential treatment. Among these genes, GBA1 is one of the most common and well-studied, but it is still unclear how mutations in GBA1 translate into an increased risk for developing PD. In this review, we provide an overview of the biochemical and structural relationship between GBA1 and PD to help understand the recent advances in the development of PD therapies intended to target this pathway.
参与家族性和散发性帕金森病（PD）的基因的发现是理解这种疾病的病理生理学和潜在治疗方法的一个重要里程碑。在这些基因中，GBA1是最常见且研究最多的基因之一，但目前仍不清楚GBA1中的突变如何转化为患帕金森病风险的增加。在这篇综述中，我们概述了GBA1与帕金森病之间的生化和结构关系，以帮助理解旨在针对该途径的帕金森病治疗方法的最新进展。
