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α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.

著者 Yun SP , Kim D , Kim S , Kim S , Karuppagounder SS , Kwon SH , Lee S , Kam TI , Lee S , Ham S , Park JH , Dawson VL , Dawson TM , Lee Y , Ko HS
Mol Neurodegener.2018 Jan 08 ; 13(1):1.
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Mutations in glucocerebrosidase (GBA) cause Gaucher disease (GD) and increase the risk of developing Parkinson's disease (PD) and Dementia with Lewy Bodies (DLB). Since both genetic and environmental factors contribute to the pathogenesis of sporadic PD, we investigated the susceptibility of nigrostriatal dopamine (DA) neurons in L444P GBA heterozygous knock-in (GBA +/L444P ) mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), a selective dopaminergic mitochondrial neurotoxin.
PMID: 29310663 [PubMed - in process]
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