Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Pathogenic pathways in early onset autosomal recessive Parkinson’s disease discovered using isogenic human dopaminergic neurons

ABSTRACT: Pathogenic pathways in early onset autosomal recessive Parkinson’s disease discovered using isogenic human dopaminergic neurons

PROVIDER: PRJNA588191 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR10416820.fastq.gz	Fastqsanger.gz
	SRR10416820_1.fastq.gz	Fastqsanger.gz
	SRR10416820_2.fastq.gz	Fastqsanger.gz
	SRR10416821.fastq.gz	Fastqsanger.gz
	SRR10416821_1.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 36

Similar Datasets

Pathogenic pathways in early onset autosomal recessive Parkinson’s disease discovered using isogenic human dopaminergic neurons

Project description:Purpose of NGS transcriptomics: We generated RNA-sequencing transcriptomics datasets from isogenic Parkinson’s disease (PD) HUES1 cell lines (harboring loss of function mutations in either PARKIN (PRKN), DJ-1-/- (PARK7), or ATP13A2-/- (PARK9)) to identify common and distinct dysregulated genes and networks in our three isogenic PD lines in an unbiased way, with the goal of grouping similar and distinct forms of PD and identify common or divergent dysregulation.

2019-11-19 | GSE140076 | GEO

Autosomal recessive PIK3CD deficiency

Project description:Autosomal recessive PIK3CD deficiency

| PRJNA893903 | ENA

Pathogenic Pathways in Early-Onset Autosomal Recessive Parkinson's Disease Discovered Using Isogenic Human Dopaminergic Neurons.

Project description:Parkinson's disease (PD) is a complex and highly variable neurodegenerative disease. Familial PD is caused by mutations in several genes with diverse and mostly unknown functions. It is unclear how dysregulation of these genes results in the relatively selective death of nigral dopaminergic neurons (DNs). To address this question, we modeled PD by knocking out the PD genes PARKIN (PRKN), DJ-1 (PARK7), and ATP13A2 (PARK9) in independent isogenic human pluripotent stem cell (hPSC) lines. We found increased levels of oxidative stress in all PD lines. Increased death of DNs upon differentiation was found only in the PARKIN knockout line. Using quantitative proteomics, we observed dysregulation of mitochondrial and lysosomal function in all of the lines, as well as common and distinct molecular defects caused by the different PD genes. Our results suggest that precise delineation of PD subtypes will require evaluation of molecular and clinical data.

| S-EPMC6962705 | biostudies-literature

Autosomal recessive SBNO2 deficiency causes an immunodysregulatory syndrome

Project description:Autosomal recessive SBNO2 deficiency causes an immunodysregulatory syndrome

| PRJNA781339 | ENA

Exome Sequencing in Autosomal Recessive Progressive External Ophthalmoplegia

Project description:Exome Sequencing in Autosomal Recessive Progressive External Ophthalmoplegia

| PRJNA75351 | ENA

Genotyping of autosomal recessive type of limb-girdle muscular dystrophies

Project description:26 limb-girdle muscular dystrophy patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 204 healthy unrelated controls were genotyped for 96 most frequent known limb-girdle muscular dystrophies causing mutations for the region, using VeraCode GoldenGate system. More information can be found in article Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies in BMC Musculoskeletal Disorders by I. Inashkina et al.

2016-04-28 | E-MTAB-4662 | biostudies-arrayexpress

Autosomal recessive TPPII mutations cause a new human immunodeficiency

Project description:Autosomal recessive TPPII mutations cause a new human immunodeficiency

| PRJNA269323 | ENA

Genetics and Functional Studies of Autosomal Recessive Neurological Disorders

Project description:Genetics and Functional Studies of Autosomal Recessive Neurological Disorders

| PRJNA971741 | ENA

Genetics and Functional Studies of Autosomal Recessive Neurological Disorders

Project description:Genetics and Functional Studies of Autosomal Recessive Neurological Disorders

| PRJNA971740 | ENA

Susceptibility to respiratory infections due to autosomal recessive IFIH1 mutations

Project description:Susceptibility to respiratory infections due to autosomal recessive IFIH1 mutations