Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

ABSTRACT: VCP mutations in Chinese amyotrophic lateral sclerosis patients

PROVIDER: PRJNA791140 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR17284674_1.fastq.gz	Fastqsanger.gz
	SRR17284674_2.fastq.gz	Fastqsanger.gz
	SRR17284675_1.fastq.gz	Fastqsanger.gz
	SRR17284675_2.fastq.gz	Fastqsanger.gz

Items per page:

1 - 4 of 4

Similar Datasets

Diversity of early astrocyte reactive profiles in familial amyotrophic lateral sclerosis

Project description:Amyotrophic lateral sclerosis (ALS) is a rapidly progressive and fatal disease. Although astrocytes are increasingly recognized contributors to the underlying pathogenesis, the uniformity of their reactive transformation in different genetic forms of ALS remains unresolved. Here we begin to systematically examine this issue by performing RNA sequencing on highly enriched and serum-free human induced pluripotent stem cell derived astrocytes from patients with VCP, SOD1 and FUS mutations. The RNA-seq samples in this collection have been used to reveal that diverse fALS mutations lead to molecularly distinct reactive transformation in their basal state.

2021-09-20 | E-MTAB-10916 | biostudies-arrayexpress

Nucleocytoplasmic mRNA redistribution in ALS motor neurons and is reversed by VCP ATPase inhibition

Project description:Although the pathological hallmark of amyotrophic lateral sclerosis (ALS) is the nucleocytoplasmic mislocalisation of RNA binding proteins (RBPs), such as TDP-43 and FUS, the nucleocytoplasmic distribution of mRNA remains uncharacterised. Here, we used subcellular fractionation with RNA sequencing to assess nucleocytoplasmic mRNA localisation in human induced pluripotent stem cell-derived motor neurons (iPSNs) from ALS patients with TARDBP mutations, VCP mutations, and controls with VCP mutations isogenically knocked in with CRISPR/Cas9. In each mutant group, we found substantial nucleocytoplasmic mRNA redistribution, particularly in transcripts involved in protein binding. Redistributed transcripts in ALS iPSNs were enriched in protein-coding biotypes, exhibited longer lengths, and had enhanced interactions with RBPs, including TDP-43 and FUS. Treatment with the VCP D2 ATPase domain inhibitor ML240 partially restored nucleocytoplasmic mRNA redistribution not only in VCP mutants but also in TARDBP mutant iPSNs.

2023-07-21 | GSE214017 | GEO

Muscle Gene Expression Is a Marker of Amyotrophic Lateral Sclerosis Severity

Project description:This study was designed to identify gene expression changes in skeletal muscle that could define reliably the degree of the severity of Amyotrophic lateral sclerosis (ALS). All samples were from human biopsies, either from healthy muscles or from muscle whose patients were clearly diagnosed as having Amyotrophic Lateral Sclerosis (ALS)

2012-01-17 | E-MEXP-3260 | biostudies-arrayexpress

Homo sapiens

Project description:Amyotrophic lateral sclerosis

| PRJNA87835 | ENA

Homo sapiens

Project description:Amyotrophic Lateral Sclerosis

| PRJNA248442 | ENA

Project description:Amyotrophic lateral sclerosis

| PRJNA171316 | ENA

Gene expression signatures in motor neuron disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions

Project description:Amyotrophic lateral sclerosis and primary lateral sclerosis are two syndromic variants within the motor neurone disease spectrum. Whilst primary lateral sclerosis is associated with loss of upper motor neurons and a more benign disease course up to 17yrs, amyotrophic lateral sclerosis is caused by loss of both upper and lower motor neurons and has an average disease course of 2-3 years. The majority of cases are sporadic, thereby limiting the availability of cellular models for investigating pathogenic disease mechanisms. The aim of the present study was to evaluate fibroblasts as a cellular model for sporadic amyotrophic lateral sclerosis and primary lateral sclerosis, to establish whether disease-related dysregulated biological processes recapitulate those seen in the central nervous system and to elucidate pathways that distinguish between the two disease phenotypes. We used microarray analysis to determine the differences in gene expression between fibroblasts derived from skin biopsies taken from sporadic amyotrophic lateral sclerosis and primary lateral sclerosis neurologically normal human controls

2014-04-16 | E-GEOD-56808 | biostudies-arrayexpress

Homo sapiens

Project description:Sporadic Amyotrophic Lateral Sclerosis

| PRJNA267252 | ENA

Homo sapiens

Project description:Sporadic Amyotrophic Lateral Sclerosis

| PRJNA267251 | ENA

Comprehensive RNA-Seq profiling in PBMCs of ALS patients and healthy controls

Project description:Coding and long non-coding RNA metabolism is now revealing its crucial role in Amyotrophic Lateral Sclerosis (ALS) pathogenesis. In this work, we performed Illumina RNA-seq analysis on Peripheral Blood Mononuclear Cells (PBMCs) from Sporadic and mutated ALS patients (mutations in FUS, TARDBP, SOD1, C9Orf72 and VCP genes) and healthy controls. Our aim is the whole-transcriptome characterization of PBMCs content, both in terms of coding and non coding RNAs, in order to compare the disease state to the healthy controls, both for sporadic patients and for mutated patients. Out dataset is a starting point for the omni-comprehensive analysis of coding and long non coding RNAs, from an easy to withdraw, manage and store tissue that shows to be a suitable model for RNA profiling in ALS.

2018-07-04 | GSE115259 | GEO

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