GEO DataSets

(Submitter supplied) SNCA, the first gene associated with Parkinson’s disease, encodes the α-synuclein protein, the predominant component within pathological inclusions termed Lewy bodies. We use 3D midbrain organoids, differentiated from human induced pluripotent stem cells derived from patients carrying a triplication of the SNCA gene and from CRISPR/Cas9 corrected isogenic control iPSCs. These human midbrain organoids recapitulate key features of α-synuclein pathology observed in the brains of patients with synucleinopathies. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL24676

2 Samples

Download data: RDS, ZIP

(Submitter supplied) A major barrier to research on Parkinson’s disease (PD) is inaccessibility of diseased tissue for study. One solution is to derive induced pluripotent stem cells (iPSCs) from patients with PD and differentiate them into neurons affected by disease. We created an iPSC model of PD caused by triplication of SNCA encoding α-synuclein. α-Synuclein dysfunction is common to all forms of PD, and SNCA triplication leads to fully penetrant familial PD with accelerated pathogenesis. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Dataset:

GDS4156

Platform:

GPL570

5 Samples

Download data: CEL

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:

Homo sapiens

Type:

Expression profiling by array; Genome variation profiling by SNP array

Platforms:

GPL5175 GPL8882

26 Samples

Download data: CEL

(Submitter supplied) A major barrier to research on Parkinson’s disease (PD) is inaccessibility of diseased tissue for study. One solution is to derive induced pluripotent stem cells (iPSCs) from patients with PD and differentiate them into neurons affected by disease. We created an iPSC model of PD caused by triplication of SNCA encoding α-synuclein. α-Synuclein dysfunction is common to all forms of PD, and SNCA triplication leads to fully penetrant familial PD with accelerated pathogenesis. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platform:

GPL8882

11 Samples

Download data: TXT

(Submitter supplied) A major barrier to research on Parkinson’s disease (PD) is inaccessibility of diseased tissue for study. One solution is to derive induced pluripotent stem cells (iPSCs) from patients with PD and differentiate them into neurons affected by disease. We created an iPSC model of PD caused by triplication of SNCA encoding α-synuclein. α-Synuclein dysfunction is common to all forms of PD, and SNCA triplication leads to fully penetrant familial PD with accelerated pathogenesis. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL5175

15 Samples

Download data: CEL

Analysis of iPSC lines derived from a PD patient with SNCA triplication and an unaffected first-degree relative. Triplication of SNCA, encoding α-synuclein, causes an aggressive form of PD. Results provide insight into the mechanistic basis of neurodegeneration caused by α-synuclein dysfunction.

Organism:

Homo sapiens

Type:

Expression profiling by array, transformed count, 3 cell line, 2 cell type, 3 genotype/variation sets

Platform:

GPL570

Series:

GSE30792

5 Samples

Download data: CEL

(Submitter supplied) Aggregated α-synuclein (α-SYN) proteins, encoded by the SNCA gene, are hallmarks of Lewy body disease (LBD), affecting multiple brain regions. However, the specific mechanisms underlying α-SYN pathology in cortical neurons, crucial for LBD-associated dementia, remain unclear. Here, we generated human cortical LBD models by differentiating induced pluripotent stem cells (iPSCs) from SNCA triplication LBD patients into cerebral organoids and observed increased levels of pathological α-SYN in these organoids. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL20301

24 Samples

Download data: MTX, TSV

(Submitter supplied) Aggregated α-synuclein (α-SYN) proteins, encoded by the SNCA gene, are hallmarks of Lewy body disease (LBD), affecting multiple brain regions. However, the specific mechanisms underlying α-SYN pathology in cortical neurons, crucial for LBD-associated dementia, remain unclear. Here, we generated human cortical LBD models by differentiating induced pluripotent stem cells (iPSCs) from SNCA triplication LBD patients into cerebral organoids and observed increased levels of pathological α-SYN in these organoids. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL20301

8 Samples

Download data: MTX, TSV

(Submitter supplied) Purpose: To compare the cortical neuroonal differentiation capacity of clonal isogenic hESC lines with different levels of alpha-synuclein (aSyn) expression. Methods 1: Shef4 hESCs was used as a parental line to create an allelic series of clonal transgenic hESC lines expressing a human SNCA (encoding aSyn) contruct. Clonal transgenic lines with high (S8, S37) and low (S9, S34) aSyn expression were established and characterized. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL18573

17 Samples

Download data: XLSX

(Submitter supplied) We optimised a new differentiation paradigm to produce midbrain dopaminergic neurons from hiPSCs. To characterise their identity, we performed scRNA-seq to investigate their gene expression and molecular identity.

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL20301

3 Samples

Download data: MTX, TSV

(Submitter supplied) One strategy to drugging undruggable proteins is to directly target the mRNA that encodes them, thereby inhibit translation and reducing protein levels. Inforna, a sequence-based design approach to target RNA, enables the design of a small molecule Synucleozid that binds SNCA mRNA which encodes alpha-synuclein. Herein, we investigate the selectivity of Synucleozid on the whole transcriptome. Based on mechanistic studies, Synucleozid targets IRE locates in 5' UTR of SNCA mRNA and reduces alpha-synuclein protein levels by decreasing the amount of SNCA mRNA loaded into polysomes. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL18573

12 Samples

Download data: CSV

(Submitter supplied) In this study, human isogenic model of juvenile onset PD caused by DNAJC6 mutation were made. Human ESCs edited using CRISPR-Cas9 to make deleterious DNAJC6 mutation was induced to human midbrain like organoid (hMLO) for studying the mechanism of DNAJC6 deleterious mutation in causing PD       

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL16791

8 Samples

Download data: TXT

(Submitter supplied) We investigated gene expression profiles of Parkinson disease (PD) patient's fibroblasts that were treated by SNCA expression-control RNAi to see adverse effects of the RNAi treatment. The data suggested no significant adverse effects caused by the treatment.

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL13915

2 Samples

Download data: TXT

(Submitter supplied) NGlY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan. Patients with pathogenic mutations in NGLY1 have complex clinical symptoms including global developmental delay, motor disorder, and liver dysfunction. To better understand disease pathogensis and neurological symptoms of NGLY1 deficiency we generated and characterized midbrain organoids using patient-derived iPSCs from two patients with disease causing mutations.

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL16791

18 Samples

Download data: CSV