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Article

A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers.

Stem cell reports - 14 Mar 2017

Yang Shi-Yu, Beavan Michelle, Chau Kai-Yin, Taanman Jan-Willem, Schapira Anthony H V

Abstract excerpt

Numerically the most important risk factor for the development of Parkinson's disease (PD) is the presence of mutations in the glucocerebrosidase GBA1 gene. In vitro and in vivo studies show that GBA1 mutations reduce glucocerebrosidase (GCase) activity and are associated with increased α-synuclein levels, reflecting similar changes seen in idiopathic PD brain. We have developed a neural crest stem cell-derived...

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Source

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Identifiers

PMID: 28216145
DOI: 10.1016/j.stemcr.2017.01.011
PMCID: PMC5355624

Genes

GBA1

Provenance

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