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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
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
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 
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
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
TranscriptomicsDifferences between C9ORF72 iPS neuronal and Control and SOD1D90A iPS neuronal transcriptomes
The purpose of this experiment was to compare differences in the transcript levels between RNA samples from induced pluripotent stem cells differentiated into neurons carrying a mutation in the SOD1 gene, an expanded GGGGCC repeat mutation in the chromosome 9 open reading frame 72 gene and those wit...
ORGANISM(S): Homo sapiens 
2013-10-29 | E-MTAB-1927 | biostudies-arrayexpress
UnknownNovel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers.
Not available
S-EPMC6091050 | biostudies-literature
UnknownC9orf72-ALS mutation drives basal mitophagy impairments in iNeurons.
Not available
S-EPMC12933941 | biostudies-literature
UnknownGray matter changes in asymptomatic C9orf72 and GRN mutation carriers.
Not available
S-EPMC5964622 | biostudies-literature
UnknownProgressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.
Not available
S-EPMC3926101 | biostudies-literature
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