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ProteomicsCGG repeat RNA binding protein capture identifies SRSF protein kinase 1 as a modulator of RAN translation and suppressor of repeat toxicity
Transcribed CGG repeat expansions cause the neurodegenerative disorder Fragile X-associated tremor/ataxia syndrome (FXTAS). CGG repeat RNAs sequester RNA-binding proteins (RBPs) into nuclear foci and undergo repeat-associated non-AUG (RAN) translation into toxic peptides in the cytoplasm. To identif...
ORGANISM(S): Homo sapiens (Human) 
2021-09-28 | PXD027000 | Pride
Ran translation Repeat rna 
TranscriptomicsGene and pathways affected by CAG-repeat RNA-based toxicity in Drosophila
Spinocerebellar ataxia type 3 (SCA3) is one of the polyglutamine (polyQ) diseases, which are caused by a CAG repeat expansion within the coding region of the associated genes. The CAG repeat specifies glutamine, and the expanded polyQ domain with mutation confers dominant toxicity on the protein. Tr...
ORGANISM(S): Drosophila melanogaster 
2011-11-22 | E-GEOD-31875 | biostudies-arrayexpress
TranscriptomicsDistinct roles for Toll and autophagy pathways in double-stranded RNA toxicity in a Drosophila model of expanded repeat neurodegenerative diseases
Dominantly inherited expanded repeat neurodegenerative diseases are typically caused by the expansion of existing variable copy number tandem repeat sequences in otherwise unrelated genes. Repeats located in translated regions encode polyglutamine that is thought to be the toxic agent, however in se...
ORGANISM(S): Drosophila melanogaster 
2013-04-05 | E-GEOD-42910 | biostudies-arrayexpress
ProteomicsHs_TERRA_pull-down_SILAC
SILAC-labeled human nuclear cell lysates in an RNA pull-down experiment
ORGANISM(S): Homo Sapiens (human) 
2013-12-31 | PAe005032 | PeptideAtlas
TranscriptomicsPerturbation of the Akt/Gsk3-beta signaling pathway is common to Drosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs
Recent evidence supports a role for RNA as a common pathogenic agent in both the “polyglutamine” and “untranslated” dominant expanded repeat disorders. One feature of all repeat sequences currently associated with disease is their predicted ability to form a hairpin secondary structure at the RNA...
ORGANISM(S): Drosophila melanogaster 
2011-04-28 | E-GEOD-27178 | biostudies-arrayexpress
TranscriptomicsRelics of repeat-induced point mutation direct heterochromatin formation in Neurospora crassa
Both RNAi-dependent and -independent mechanisms have been implicated in the establishment of heterochromatin domains, which may be stabilized by feedback loops involving chromatin proteins and modifications of histones and DNA. Neurospora crassa sports features of heterochromatin found in higher eu...
ORGANISM(S): Neurospora crassa 
2010-05-15 | E-GEOD-12690 | biostudies-arrayexpress
UnknownRepeat-associated RNA structure and aberrant splicing.
Not available
S-EPMC7099610 | biostudies-literature
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
ProteomicsProximity proteomics of C9orf72 dipeptide repeat proteins
Profiling of proximity proteomes of C9orf72-derived dipeptide repeat proteins (poly-GA, poly-GR, poly-PR) in HEK293 cells using BioID assay
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-12-17 | MSV000088581 | MassIVE
UnknownCas6 processes tight and relaxed repeat RNA via multiple mechanisms: A hypothesis.
Not available
S-EPMC5699886 | biostudies-literature
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