GEO DataSets

(Submitter supplied) Gene expression profiling has been performed on motor cortex and spinal cord homogenates and of sporadic ALS cases and controls, to identify genes and pathways differentially expressed in ALS. More recent studies have combined the use of laser capture microdissection (LCM) with gene expression profiling to isolate the motor neurons from the surrounding cells, such as microglia and astrocytes, in order to determine those genes differentially expressed in the vulnerable cell population – i.e. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL570

10 Samples

Download data: CEL

(Submitter supplied) We report transcriptomic dysregulations in the spinal cord of asymptomatic (A: 1.5 months) symptomatic (S: 6 months) and end stage (E: 10-12 months) CHMP2Bintron5 mice by RNA sequencing. We found that genes related to immune system and lipid metabolism had altered expression levels at 1.5 month. Expression of genes related to neuronal system was atletred at 6months and expression of genes related to neuronal system and extracellular matrix xere dfound deregulated at the end-stage. more...

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL21103

32 Samples

Download data: TXT

(Submitter supplied) DNA sequence variants in the TBK1 gene associate with or cause sporadic or familial amyotrophic lateral sclerosis (ALS). Here we show that mice bearing human ALS-associated TBK1 missense loss-of-function mutations, or mice in which the Tbk1 gene is selectively deleted in motor neurons, do not display a neurodegenerative disease phenotype. However, loss of TBK1 function in motor neurons of the SOD1G93A mouse model of ALS impairs autophagy, increases SOD1 aggregation, and accelerates early disease onset without affecting lifespan. more...

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL21626

12 Samples

Download data: BW

(Submitter supplied) Genes associated with amyotrophic lateral sclerosis (ALS) are identified in ~15% of sporadic cases. Pcdhα9 mouse mutants carrying the corresponding point mutation or deletion mutation manifested a progressive decline in survival and motor function (paralysis) caused by loss of spinal motor neurons, significant muscle atrophy, and structural/functional abnormalities of the neuromuscular junction. Potential causes of defects in mutant mice predicted by single nucleus RNA-seq and ATAC-seq.

Organism:

Mus musculus

Type:

Genome binding/occupancy profiling by high throughput sequencing; Expression profiling by high throughput sequencing

Platform:

GPL24247

4 Samples

Download data: TAR

(Submitter supplied) Transcriptome profiling of microglia cells carrying a G>C mutation at the last exon (exon six) of the CHMP2B gene linked to frontotemporal dementia (dbSNP: rs63750652) and of the corresponding isogenic controls. Heterozygous and homozygous mutant cells were obtained by precision CRISPR/Cas9 genome editing. All cells were derived from human induced pluripotent stem cells (healthy donor cell line).

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL28038

29 Samples

Download data: GTF, TSV

(Submitter supplied) Transcripional profiling of lymphocytes from patients with amyotrophic lateral sclerosis (ALS) (n=11) and healthy control subjects (n=11). The goal was to determine disease response expression signatures relevant of ALS pathogenesis that affect brain and spinal cord. The reference design was used: each Cy5-labeled cRNA sample from ALS patient or healthy control subject was cohybridized on Agilent-014850 Whole Human Genome Microarray 4x44K G4112F with the reference pool formed with equal amounts of Cy3-labeled cRNAs from each sample from the healthy control group.

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL4133

22 Samples

Download data: TXT

(Submitter supplied) CHMP2B mutant astrocytes revealed an accumulation of autophagosomes, which trigger the observed astrocyte reactivity leading to increased cytokine release, altered mitochondria dynamics and metabolic changes.

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL11154

9 Samples

Download data: XLSX