Molecular mechanisms of α-synuclein and GBA1 in Parkinson's disease.

Molecular mechanisms of α-synuclein and GBA1 in Parkinson's disease.
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DOI:
10.1007/s00441-017-2704-y
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发表时间:
2018-07
影响因子:
3.6
通讯作者:
Mazzulli JR
Mazzulli JR
中科院分区:
生物学3区
文献类型:
--
作者:
Stojkovska I;Krainc D;Mazzulli JR

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Parkinson’s disease (PD) is a neurodegenerative movement disorder characterized pathologically by the presence of Lewy bodies comprised of insoluble alpha-synuclein. Pathological, clinical and genetic studies demonstrate that mutations in the GBA1 gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase) that is deficient in Gaucher’s disease, are important risk factors for the development of PD. The molecular mechanism for the association between these two diseases is not completely understood. We discuss several possible mechanisms that may lead to GBA1-related neuronal death and alpha-synuclein accumulation including disruptions in lipid metabolism, protein trafficking, and impaired protein quality control mechanisms. Elucidating the mechanism between GCase and alpha-synuclein may provide insight into potential therapeutic pathways for PD and related synucleinopathies.
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