Unknown,Transcriptomics,Genomics,Proteomics

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Transcriptome profile of C9ORF72 ALS fibroblast


ABSTRACT: 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 ALS patients with a mutation in the SOD1 gene.

ORGANISM(S): Homo sapiens

SUBMITTER: Christopher Donnelly 

PROVIDER: E-MTAB-1926 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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A hexanucleotide GGGGCC repeat expansion in the noncoding region of the C9ORF72 gene is the most common genetic abnormality in familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The function of the C9ORF72 protein is unknown, as is the mechanism by which the repeat expansion could cause disease. Induced pluripotent stem cell (iPSC)-differentiated neurons from C9ORF72 ALS patients revealed disease-specific (1) intranuclear GGGGCCexp RNA foci, (2) dysregul  ...[more]

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