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SNP Genotype and Gene Expression data from induced Pluripotent Stem cells from Parkinson's Disease patients harboring mutations in the GBA1 gene, and from healthy control donors

ABSTRACT: SNP Genotype and Gene Expression data from induced Pluripotent Stem cells from Parkinson's Disease patients harboring mutations in the GBA1 gene, and from healthy control donors

PROVIDER: PRJNA388562 | ENA |

REPOSITORIES: ENA

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SNP genotype data from induced Pluripotent Stem cells from Parkinson's Disease patients harboring mutations in the GBA1 gene, and from healthy control donors

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Gene expression data from induced Pluripotent Stem cells from Parkinson's Disease patients harboring mutations in the GBA1 gene, and from healthy control donors

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Project description:This SuperSeries is composed of the SubSeries listed below.

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Project description:The GBA1 gene encodes the lysosomal enzyme acid-β-glucocerebrosidase (GCase). GBA1 mutations cause the lysosomal storage disorder Gaucher disease (GD) and are a genetic risk factor for Parkinson´s disease (PD). Many GBA1 mutations cause aberrant GCase folding and processing but how these impinge on PD pathogenesis remains unclear. We addressed GCase functions in human dopaminergic (DA) neurons derived from engineered GBA1-deficient (GBA1-/-) embryonic stem cells (hESCs) and GBA1N370S PD patient-derived induced pluripotent cells (hiPSCs). GBA1-mutant DA neurons displayed aberrant morphologies and gene expression that were rescued by recombinant GCase treatment. GBA1-/- neurons have hyperactive Calcineurin (CaN) and nuclear localization of the Transcription Factor EB (TFEB). Expression of TFEB targets and lysosomal CLEAR network components were increased in GBA1-/- DA neurons and rescued by GCase replacement and CaN inhibition. Our findings reveal a link between increased CaN activity and loss of GCase, providing a mechanism for the disturbed lysosomal/autophagy pathways in GBA1-associated PD.

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SNP data from human fibroblasts and induced Pluripotent Stem cells from Parkinson's Disease patients

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