Browse
Submit Data
Databases
API
Help

Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Evaluation of differential gene expression in patients with amyotrophic lateral sclerosis (ALS)

ABSTRACT: We compared gene expression profiles of ALS patients with normal patients and with multifocal motor neuropathy (MMN) patients. Skeletal muscle specimens from 3 ALS patients, 3 MMN patients, and 3 control patients were used to find disease markers specifically expressed in ASL and MMN patients.

ORGANISM(S): Homo sapiens

SUBMITTER: soon gang choi

PROVIDER: E-GEOD-26276 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

ACCESS DATA

Json Xml

Similar Datasets

Evaluation of differential gene expression in patients with amyotrophic lateral sclerosis (ALS)

Project description:We compared gene expression profiles of ALS patients with normal patients and with multifocal motor neuropathy (MMN) patients.

2011-02-26 | GSE26276 | GEO

Amyotrophic lateral sclerosis

Project description:Identification of amyotrophic lateral sclerosis (ALS) associated genes. Post mortem spinal cord grey matter from sporadic and familial ALS patients compared with controls. Keywords: other

2003-11-14 | GSE833 | GEO

CSF extracellular vesicle proteomics demonstrates altered protein homeostasis in amyotrophic lateral sclerosis

Project description:Extracellular vesicles (EVs) are released by neurons and glia reach the cerebrospinal fluid (CSF). Studying the proteome of CSF-derived EVs offers a novel perspective on the key intracellular processes associated with the pathogenesis of the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and a potential source from which to develop biomarkers. CSF EVs were extracted using ultrafiltration liquid chromatography from ALS patients and controls. EV size distribution and concentration was measured using nanoparticle tracking analysis and liquid chromatography-tandem mass spectrometry proteomic analysis performed. CSF EV concentration and size distribution did not differ between ALS and control groups, nor between a sub-group of ALS patients with or without an associated hexanucleotide repeat expansion (HRE) in C9orf72. Univariate proteomic analysis identified downregulation of the pentameric proteasome-like protein Bleomycin hydrolase in ALS patients, whilst Gene Ontology enrichment analysis demonstrated downregulation of proteasome core complex proteins (8/8 proteins, normalized enrichment ratio -1.77, FDR-adjusted p = 0.057) in the ALS group. The sub-group of ALS patients associated with the C9orf72 HRE showed upregulation in Ubiquitin-like modifying-activating protein 1 (UBA1) compared to non-C9orf72 cases. Proteomic analysis of CSF EVs in ALS detects intracellular alterations in protein homeostatic mechanisms, previously only identified in pathological tissues. This supports the wider use of CSF EVs as a source of novel biomarkers reflecting key and potentially druggable pathological intracellular pathway alterations in ALS.

2021-09-09 | PXD020499 | Pride

Distinct features of plasma extracellular vesicles in amyotrophic lateral sclerosis patients

Project description:Extracellular vesicles (EVs) are nanostructures that are used as sources of biomarkers. To better understand whether EVs could be exploited as diagnostic and prognostic biomarkers in Amyotrophic Lateral Sclerosis (ALS), we analyzed plasma-derived of ALS patients and relative healthy and diseased controls. Using the nickel-based isolation, a recently published EV purification method, we unmasked peculiar features in plasma EVs of ALS patients with a potential straightforward application in a clinical setting. We report that the number of particles is increased in the plasma of ALS patients and of two mouse models of ALS while the average diameter is decreased. Proteins like HSP90 and phosphorylated TDP-43 are differentially represented in ALS patients and mice compared to the controls. In terms of disease progression, the levels of phosphorylated TDP-43 and cyclophilin A, along with the EV size distribution discriminated fast and slow progressors of the diseases suggesting a new means for patient stratification. We exploited the EV size distribution with machine learning analysis that combining different EV parameters resulted in very high prediction rates for disease diagnosis and prognosis

2021-09-09 | PXD020629 | Pride

Gene expression profiles in spinal cord of control and sporadic Amyotrophic Lateral Sclerosis patients

Project description:We performed gene expression profiles of spinal cord samples of ALS patients (30) and controls (10) in order to obtain transcriptomics information belonging to different brain regions of ALS patients. Motor cortex gene expression profiles of the same patients were previously submitted (E-MTAB-2325) and published.

2020-01-10 | E-MTAB-8635 | biostudies-arrayexpress

A gene-expression signature in fibroblasts of Amyotrophic Lateral Sclerosis

Project description:In this study, we characterized transcriptome changes in skin fibroblasts of sporadic ALS patients (SALS) and controls and evaluated their utility as a molecular classifier for ALS diagnosis.

2024-01-01 | GSE233881 | GEO

Whole blood transcriptome analysis in amyotrophic lateral sclerosis: a biomarker study [HT12_V4]

Project description:Transcriptome-wide analysis of whole blood gene expression profiles of ALS patients, gender- and age-matched controls and patients diagnosed with diseases mimicking ALS at a tertiary referral center for motor neuron diseases.

2018-04-05 | GSE112680 | GEO

Whole blood transcriptome analysis in amyotrophic lateral sclerosis: a biomarker study [HT12_V3]

2018-04-05 | GSE112676 | GEO

Identification of Candidate Genes for Sporadic Amyotrophic Lateral Sclerosis by Array Comparative Genomic Hybridisation

Project description:Background: Amyotrophic lateral sclerosis (ALS) is a devastating disorder of the central nervous system that leads to progressive loss of upper and lower motor neurons. Most cases are sporadic and of unknown aetiology. In this study, we screened 71 patients with sporadic ALS for the presence of DNA copy number variations, in order to identify novel candidate disease genes. Methods: We have used sub-megabase resolution BAC array comparative genomic hybridisation to detect genomic imbalances in our ALS patient cohort. In order to distinguish phenotypically neutral copy number variations occurring frequently in the normal population from disease-associated aberrations, we screened our results against both the Database of Genomic Variants and a reference data set of approximately 700 normal individuals and probands with other disorders analysed in our laboratory. Aberrations with potential relevance for disease aetiology were verified by oligo array CGH. Findings: In 71 patients with sporadic ALS, we identified a total of six duplications and seven deletions that scored above our threshold. Twelve of these thirteen variations were smaller than 1Mb. Seven were observed exclusively in ALS patients and thus likely play causal roles in the disorder. Analysis of these regions highlighted, for example, the SLC1A7 (EAAT5) glutamate transporter and the kinesin family member KIF9 as good positional and functional candidate genes for ALS. Interpretation: Non-polymorphic sub-microscopic duplications and deletions observable by array CGH are frequent in patients with sporadic ALS. Analysis of such aberrations serves as an excellent starting point in deciphering the aetiology of this complex disease. Keywords: array CGH A cohort of 71 ALS patients was analysed by means of a submegabase resolution BAC array. No replicates were included. Experiments were done without dye swap.

2008-12-24 | E-GEOD-7950 | biostudies-arrayexpress

Transcriptome profiling of SOD1 mutant ALS model motor neurons.

Project description:Recent genetic studies of ALS patients have identified several forms of ALS that are associated with mutations in RNA binding proteins. In animals or cultured cells, such defects broadly affect RNA metabolism. This raises the question of whether all forms of ALS have general effects on RNA metabolism. We tested this hypothesis in a mouse model of ALS that is transgenic for a human disease-causing mutation in the enzyme superoxide dismutase 1 (SOD1). We analyzed RNA from laser-captured spinal cord motor neuron cell bodies of the mutant SOD1 strain, comparing the RNA profile with that from a corresponding wild-type SOD1 transgenic strain. We prepared the samples from animals that were presymptomatic, but which manifested abnormalities at the cellular level that are seen in ALS, including aggregation of the mutant protein in motor neuron cell bodies and defective morphology of neuromuscular junctions, the connections between neuron and muscle. We observed only minor changes in the level and splicing of RNA in the SOD1 mutant animals as compared with wild-type, suggesting that mutant SOD1 produces the toxic effects of ALS by a mechanism that does not involve global RNA disturbance. RNA-Seq of laser microdissection of motor neuron bodies from two biological replicates each of SOD1 YFP (wildtype 592) and SOD1 G85R YFP (737) transgenic mice.

2012-12-04 | E-GEOD-38820 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data