Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

A naturally occurring variant of SHLP2 is a protective factor in Parkinson disease

ABSTRACT: Although mitochondrial DNA single nucleotide polymorphisms have been associated with Parkinsons disease their functional effects are unclear. Here, we functionalized a PD-associative mtSNP and found that it affects a mitochondrial-derived peptide MDP.

INSTRUMENT(S): Q Exactive Plus

ORGANISM(S): Homo Sapiens (ncbitaxon:9606)

SUBMITTER: Pinchas Cohen

PROVIDER: MSV000089632 | MassIVE | Sat Jun 11 11:24:00 BST 2022

SECONDARY ACCESSION(S): PXD034482

REPOSITORIES: MassIVE

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Derivation, characterization, and neuronal differentitation of integration-free induced pluripotent stem cell lines from Parkinsons disease patients carrying SNCA, LRRK2, PARK2, and GBA mutations

Project description:Analysis of whole genome expression in control and patients with Parkinsons disease iPSC lines. The hypothesis tested in present study was that deficient GBA, SNCA, LRRK2 and PARKIN expression can be used for disease modeling by their affects on multiple pathways. These results provide information on relationship between PD genes and mitochondria related gene expression. Total RNA obtained from patient iPSC line compare to control iPSC line

2016-02-23 | E-GEOD-78152 | biostudies-arrayexpress

Derivation, characterization, and neuronal differentiation of integration-free induced pluripotent stem cell lines from Parkinsons disease patients carrying SNCA, LRRK2, PARK2, and GBA mutations

2016-02-23 | GSE78152 | GEO

Exploratory research to investigate the single nucleotide polymorphisms (SNP) which can predict oxaliplatin-induced neuropathy

Project description:Primary outcome(s): To investigate the single nucleotide polymorphisms correlated with oxaliplatin-induced neuropathy

| 2616724 | ecrin-mdr-crc

RNA-Seq profiling of dopaminergic neurons from iPSCs of Parkinson's disease patients

Project description:The fact that Parkinsons disease (PD) can arise from numerous genetic mutations suggests a unifying molecular pathology underlying the various genetic backgrounds. In order to address this hypothesis, an integrated approach utilizing in vitro disease modeling and comprehensive transcriptome profiling was taken to advance our understanding of PD progression and the concordant downstream signaling pathways across divergent genetic predispositions. To model PD in vitro, neurons harboring disease-causing mutations were generated from patient-specific, induced pluripotent stem cells (iPSCs) and found to recapitulate several disease-related phenotypes. Signs of degeneration in PD midbrain dopaminergic (mDA) neurons were observed, reflecting the cardinal feature of PD. In addition, novel gene expression signatures were revealed for PD mDA neurons, providing molecular insights to disease phenotype observed in vitro, including oxidative stress vulnerability and altered neuronal activity. Notably, detailed transcriptome profiling of PD neurons showed that elevated RBFOX1, a gene previously linked to neurodevelopmental diseases, is responsible for a pattern of alternative RNA processing associated with PD-specific phenotypes in vitro.

2016-06-07 | E-MTAB-4586 | biostudies-arrayexpress

Homo sapiens

Project description:Single-nucleotide polymorphisms and TTV

| PRJNA898147 | ENA

LC-MS Dataset of Fumarate Levels and Parkin Post Translational Modifications

Project description:This study investigates the regulatory role of fumarate, a metabolite of the citric acid cycle, in PINK1-Parkin-mediated mitophagy-a process essential for mitochondrial quality control and implicated in Parkinsons disease (PD). We identified post-translational succination modifications on Parkin at cysteine residues 323 and 451, demonstrating that fumarate-mediated succination impairs Parkins mitochondrial localization and E3 ligase activity. Using proteomic LC-MS, we discovered novel succination sites, while metabolomic LC-MS enabled the quantification of fumarate levels in biological samples, including mammalian cells and Drosophila. Functional validation with Parkin knock-in Drosophila models harboring succinatable cysteines revealed PD-like phenotypes upon fumarate accumulation, underscoring the physiological relevance of this modification. Our integrated proteomic and metabolomic approach establishes fumarate as an endogenous modulator of mitophagy and provides new insights into the role of mitochondrial metabolism in PD pathogenesis.

2025-05-19 | MSV000097910 | MassIVE

Functional relevance of naturally occurring single nucleotide polymorphisms in bovine leukemia virus-encoded microRNAs.

Project description:Functional relevance of naturally occurring single nucleotide polymorphisms in bovine leukemia virus-encoded microRNAs.

| PRJNA1273077 | ENA

Transcription factor-SNP interactome for colorectal cancer risk loci

Project description:A core task to understand the consequences of non-coding single nucleotide polymorphisms (SNP) is to identify their genotype specific binding of transcription factor (TF). Here, we generate a large-scale TF-SNP interaction map for a selection of 116 colorectal cancer (CRC) risk loci and validated TF binding to 10 putatively functional SNPs. Our data further revealed TF binding complexity adjacent to the 116 risk loci, adding an additional layer of understanding to regulatory networks associated with CRC relevant loci.

2017-02-23 | PXD004435 | Pride

Project description:Single Nucleotide Polymorphisms in Amblyomma maculatum

| PRJNA988128 | ENA

Transcription factor-SNP interactome for colorectal cancer risk loci

2017-03-30 | MSV000080810 | MassIVE