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15
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ShareScore release 0.9.0
Dataset results
15 results for “GBA1”
Neither alpha-synuclein-preformed fibrils derived from patients with GBA1 mutations nor the host murine genotype significantly influence seeding efficacy in the mouse olfactory bulb
<p>Data sets for;</p> <p>Neither alpha-synuclein-preformed fibrils derived from patients with <em>GBA1</em> mutations nor the host murine genotype significantly influence seeding efficacy in the mouse olfactory bulb</p>
Phase 1/2a Clinical Trial of PR001 (LY3884961) in Patients With Parkinson's Disease With at Least One GBA1 Mutation (PROPEL)
ClinicalTrials.gov study NCT04127578. IPD Sharing: NO. Countries: 2. Publications: 1.
High-Dose Ambroxol in GBA1-Related Parkinson
ClinicalTrials.gov study NCT06193421. IPD Sharing: NO. Countries: 1. Publications: 7.
Single cell analysis of iPSC-derived midbrain organoids (GBA1 mutant and controls)
GEO Series GSE198033. Homo sapiens. 11 samples. Type: Expression profiling by high throughput sequencing.
Gene expression data from induced Pluripotent Stem cells from Parkinson's Disease patients harboring mutations in the GBA1 gene, and from healthy control donors
GEO Series GSE99142. Homo sapiens. 5 samples. Type: Expression profiling by array.
Differential gene expression in 2 days old zebrafish after glucocerebrosidase (GBA1) morpholino-mediated knockdown
GEO Series GSE54754. Danio rerio. 8 samples. Type: Expression profiling by array.
Prodromal Parkinsonian Features in GBA1 Mutation Carriers
ClinicalTrials.gov study NCT05253560. IPD Sharing: UNDECIDED. Countries: 1. Publications: 0.
A Clinical Trial of CAP-003 Gene Therapy in Adult Patients With GBA1 Associated Parkinson's Disease
ClinicalTrials.gov study NCT07011771. IPD Sharing: NO. Countries: 1. Publications: 0.
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
GEO Series GSE99473. Homo sapiens. 18 samples. Type: Expression profiling by array; SNP genotyping by SNP array; Genome variation profiling by SNP array.
Beyond the Macrophage: System-wide Cellular and Molecular Dysregulation in GBA1 Deficient Mice Recapitulates Human Non-neuronopathic, Type 1 Gaucher Disease
GEO Series GSE23086. Mus musculus. 7 samples. Type: Expression profiling by array.
Brain regional and cell type-specific chromatin changes among sporadic, GBA1 variant, and APOE E4 Parkinson’s Disease
GEO Series GSE273511. Homo sapiens. 426 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
SNP genotype data from induced Pluripotent Stem cells from Parkinson's Disease patients harboring mutations in the GBA1 gene, and from healthy control donors
GEO Series GSE99471. Homo sapiens. 13 samples. Type: SNP genotyping by SNP array; Genome variation profiling by SNP array.
Effect of GBA1 deficiency in human iPSC-derived dopaminergic neurons and astrocytes
GEO Series GSE315738. Homo sapiens. 54 samples. Type: Expression profiling by high throughput sequencing.
GBA1 regulates the CLEAR network through Calcineurin and TFEB in cellular models of Parkinson´s disease
GEO Series GSE118511. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
Dataset related to article "Parkinson's disease midbrain organoids link GBA1 to Lewy pathology"
<p>This record contains data related to the article "Parkinson’s disease midbrain organoids link GBA1 to Lewy pathology".</p> <p><strong>Abstract</strong></p> <p>Aggregation of α-synuclein protein in “Lewy bodies” or “Lewy neurites” is a defining hallmark of Parkinson’s disease neuropathology. Mutations in <em>GBA1</em>, encoding the glucosylceramide-hydrolyzing enzyme glucocerebrosidase, cause Gaucher’s disease and are the most frequent genetic risk factor for Parkinson’s disease. However, a defined link between mutations in <em>GBA1</em> and α-synuclein pathology is yet to be determined, largely because of the absence of experimental models able to recapitulate the key neuropathological signatures of the disease. Here, we present an innovative midbrain organoid culture system derived from subjects with <em>GBA1</em>-related Parkinson’s disease as the first patient-based model able to reproduce fundamental neuropathological features of the disease. We show that retention of mutant glucocerebrosidase in the endoplasmic reticulum and increased glucosylceramide levels are determinants of α-synuclein aggregation into inclusions resembling Lewy bodies and Lewy neurites in both mono- and biallelic <em>GBA1</em> mutated midbrain organoids. In this process, the entity of glucocerebrosidase activity reduction acts as an accelerating factor in the progression of α-synuclein pathology by favoring the conversion of soluble α-synuclein to its insoluble forms. We provide evidence that α-synuclein extracted from Parkinson’s samples displays seeding activity <em>in vitro</em> and, following inoculation in unaffected organoids, propagates the pathology. Finally, we demonstrate pharmacological rescue of pathological phenotypes with molecules engaging in the glucocerebrosidase pathway, suggesting that midbrain organoids could represent valuable <em>in vitro</em> platforms for drug testing in Parkinson’s disease and potentially other Lewy body disorders still lacking a definitive therapy.</p> <p> </p>
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.