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MetabolomicsLipidomic analysis of human brain from frontotemporal dementia cases of with GRN and C9orf72 mutations
Not available
ORGANISM(S): Homo sapiens 
ST002452 | MetabolomicsWorkbench
TranscriptomicsTargeted degradation of sense and antisense C9orf72 RNA foci as therapy for amyotrophic lateral sclerosis and frontotemporal dementia (strand specific RNA-seq)
Purpose: The purpose of this experiment is to identify expression changes after ASO-dependent depletion of mouse C9orf72 in the spinal cord of wild-type C57Bl/6 female mice. Methods: Strand specific RNA-seq was performed using RNAs extracted from spinal cord of C57Bl/6 mice two weeks after intracere...
ORGANISM(S): Mus musculus 
2013-11-12 | E-GEOD-51685 | biostudies-arrayexpress
TranscriptomicsTranscription profiling by array of post-mortem brain cortex from healthy control patients and amyotrophic lateral sclerosis patients that carry an expanded GGGGCC repeat mutation in the chromosome 9 open reading frame 72 (C9ORF72) gene
The purpose of this experiment was to compare differences in the transcript level between RNA samples collected from post-mortem motor cortex from healthy control patients and amyotrophic lateral sclerosis (ALS) patients that carry an expanded GGGGCC repeat mutation in the chromosome 9 open reading ...
ORGANISM(S): Homo sapiens 
2013-10-29 | E-MTAB-1925 | biostudies-arrayexpress
ProteomicsC9orf72 ubiquitin and interaction proteomics
C9orf72 binds SMCR8 to from a robust complex that regulates small GTPases, lysosomal integrity and autophagy. In contrast to this functional understanding, we know far less about assembly and turnover of the C9orf72-SMCR8 complex. Loss of either subunit causes the concurrent ablation of the respecti...
ORGANISM(S): Homo sapiens (Human) 
2023-05-10 | PXD039887 | Pride
Als Ftd Ubiquitin C9orf72 Smcr8 
ProteomicsA complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy - PART 1
Mutations in proteins like FUS which cause Amyotrophic Lateral Sclerosis (ALS) result in the aberrant formation of stress granules while ALS-linked mutations in other proteins impede elimination of stress granules. Repeat expansions in C9ORF72, the major cause of ALS, reduce C9ORF72 levels but how t...
ORGANISM(S): Homo sapiens (Human) 
2018-07-26 | PXD009759 | Pride
Lc-msms Oxidative stress Als C9orf72 
TranscriptomicsTranscriptome profile of C9ORF72 ALS fibroblast
The purpose of this experiment was to compare the differences in transcript levels between RNA samples collected from fibroblasts from healthy control patients, amyotrophic lateral sclerosis (ALS) patients carrying an expanded GGGGCC repeat mutation in the chromosome 9 open reading frame 72 gene and...
ORGANISM(S): Homo sapiens 
2013-10-29 | E-MTAB-1926 | biostudies-arrayexpress
TranscriptomicsC9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD
Noncoding expansions of a hexanucleotide repeat (GGGGCC) in the C9orf72 gene are the most common cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. Here we report transgenic mice carrying a bacterial artificial chromosome (BAC) containing the full human C9orf72 gene with ei...
ORGANISM(S): Mus musculus 
2016-02-10 | E-GEOD-77720 | biostudies-arrayexpress
ProteomicsCell autonomous immune dysfunction driven by disrupted autophagy in C9orf72-ALS microglia contributes to neurodegeneration
The most common genetic mutation found in familial and sporadic amyotrophic lateral sclerosis (ALS), as well as fronto-temporal dementia (FTD), is a repeat expansion in the C9orf72 gene. C9orf72 is highly expressed in human myeloid cells, and although neuroinflammation and microglial pathology are w...
ORGANISM(S): Homo sapiens (Human) 
2023-03-02 | PXD032320 | Pride
Microglia and inflammation C9orf72 mutation C9orf72 interactome Lc-ms/ms 
TranscriptomicsTargeted degradation of sense and antisense C9orf72 RNA foci as therapy for amyotrophic lateral sclerosis and frontotemporal dementia (Multiplex Analysis of PolyA-linked Sequences)
Purpose: The purpose of this experiment is to identify a C9-ALS/FTD specific genomic profile in fibroblast lines that is distinct from sporadic ALS without C9orf72 expansion and non-neurologic control cells. The study will then evaluate the effect on this identified profile of ASO treatment targetin...
ORGANISM(S): Homo sapiens 
2013-11-12 | E-GEOD-51684 | biostudies-arrayexpress
TranscriptomicsiPSC derived motor neuron cultures from C9ORF72 carriers
Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative condition characterized by loss of motor neurons in the brain and spinal cord. Expansions of a hexanucleotide repeat (GGGGCC) in the noncoding region of the C9ORF72 gene are the most common cause of the familial form of ALS (C9-ALS), ...
ORGANISM(S): Homo sapiens 
2013-11-07 | E-GEOD-52202 | biostudies-arrayexpress
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