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ProteomicsRepeat length of the C9orf72-associated glycine-alanine polypeptides affects their toxicity
G4C2 hexanucleotide repeat expansions in a non-coding region of the C9orf72 gene are the most common cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). G4C2 insertion length is variable, and patients can carry up to several thousand repeats. Dipeptide repeat pro...
ORGANISM(S): Drosophila melanogaster (Fruit fly) 
2023-09-12 | PXD038900 | Pride
Toxicity Repeat length Drosophila C9orf72 Glycine-alanine 
GenomicsHigh-Throughput Targeted Repeat Element Bisulfite Sequencing (HT-TREBS)
In vertebrates, DNA methylation-mediated repression of retrotransposons is essential for the maintenance of genomic integrity. In the current study, we developed a technique termed HT-TREBS (High-Throughput Targeted Repeat Element Bisulfite Sequencing). This technique is designed to measure the DN...
ORGANISM(S): Mus musculus 
2014-07-24 | E-GEOD-49222 | biostudies-arrayexpress
TranscriptomicsContinuous analysis captures cellular states that reflect dominant effects of the HTT CAG repeat in human lymphoblastoid cell lines.
In Huntington’s disease (HD), expanded HTT CAG repeat length correlates strongly with age at motor onset, indicating that it determines the rate of the disease process leading to diagnostic clinical manifestations. Similarly, in normal individuals, HTT CAG repeat length is correlated with biochemica...
ORGANISM(S): Homo sapiens 
2013-05-03 | E-GEOD-34721 | biostudies-arrayexpress
TranscriptomicsCleavage Factor Im as a key regulator of 3’ UTR length
In eukaryotes, the 3' ends of RNA polymerase II-generated transcripts are made in the majority of cases by site-specific endonucleolytic cleavage, followed by the addition of a poly(A) tail. By alternative polyadenylation, a gene can give rise to multiple mRNA isoforms that differ in the length of t...
ORGANISM(S): Homo sapiens 
2012-10-30 | E-GEOD-40137 | biostudies-arrayexpress
GenomicsCAG repeat-binding small molecule improves repeat-length-dependent dysregulation of gene expression profiles in a mouse model of Dentatorubral–pallidoluysian atrophy
CAG repeat-binding small molecule improves repeat-length-dependent dysregulation of gene expression profiles in a mouse model of Dentatorubral–pallidoluysian atrophy
PRJNA761581 | ENA
ProteomicsIntegrated genomics and proteomics to define huntingtin CAG length-dependent molecular networks in HD mouse brains
To gain insight into how mutant Huntingtin (mHTT) CAG repeat length may modify Huntington’s disease (HD) pathogenesis, we profiled mRNA in over 600 brain and peripheral tissue samples from HD knock-in mice with increasing CAG repeat length. We find repeat length dependent transcriptional signatures ...
ORGANISM(S): Mus musculus (Mouse) 
2016-02-16 | PXD003442 | Pride
Proteomics Striatum Huntington disease Label-free Mouse brain 
TranscriptomicsComparative genomic hybridization Streptomyces coelicolor A3(2) strains
The chromosomes of several widely used laboratory derivatives of Streptomyces coelicolor A3(2) were found to have 1.06 Mb inverted repeat sequences at their termini (i.e. long-terminal inverted repeats; L-TIRs), which are 50 times the length of the 22 kb TIRs of the sequenced S. coelicolor strain M1...
ORGANISM(S): Streptomyces coelicolor 
2005-07-21 | E-SMDB-2740 | biostudies-arrayexpress
UnknownApproaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation.
Not available
S-EPMC7990409 | biostudies-literature
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
UnknownTissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.
Not available
S-EPMC8994295 | biostudies-literature
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