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TranscriptomicsThe effects on transcriptome from absence of Spt4/Supt4h by RNA-seq
We have done RNAseq analyses in yeast and in rat and mouse striatal neurons. The experiments in yeast examine globally the physiological effects of spt4 deletion on the transcriptome. The experiments in neurons examine the global effects of supt4 knockdown to a cellular level (i.e., 50% knockdown)...
ORGANISM(S): Rattus norvegicus 
2012-02-15 | E-GEOD-33497 | biostudies-arrayexpress
GenomicsAnalyzing Presymptomatic Tissue to Gain Insights into Late-Onset Degenerative Trinucleotide Repeat Disease
Analyzing Presymptomatic Tissue to Gain Insights into Late-Onset Degenerative Trinucleotide Repeat Disease
PRJNA597343 | ENA
ProteomicsTCF4 trinucleotide repeat expansion drives distinct proteomic signatures in Fuchs endothelial corneal dystrophy
The aims of this study were to use an isogenic cell model system to investigate the proteomic consequences of TCF4 trinucleotide repeat expansion in Fuchs endothelial corneal dystrophy (FECD) and to identify potential molecular pathways contributing to disease pathogenesis. We used our previously es...
ORGANISM(S): Homo sapiens (Human) 
2026-06-08 | PXD075094 | Pride
Retina Fuchs endothelial corneal dystrophy (fecd) Ctg repeat 
TranscriptomicsTranscription profiling of mouse cerebellum cells containing expanded or normal CAG trinucleotide repeats in the coding region for TATA-binding protein (TBP)
Transcription profiles were obtained for 2-month old mice containing an expanded or normal CAG trinucleotide repeat in the coding region for TATA-binding protein (TBP). Three different genotypes were used : TBP-13Q (normal), TBP-71Q (71 repeats), and TBP-105Q (105 repeats). Two lines of TBP-71Q (li...
ORGANISM(S): Mus musculus 
2007-11-09 | E-MEXP-1313 | biostudies-arrayexpress
TranscriptomicsVulnerability of Purkinje cells induced from spinocerebellar ataxia type 6 patient-derived iPS cells [1]
Spinocerebellar ataxia type 6 (SCA6) is a dominantly inherited neurodegenerative disease characterized by loss of Purkinje cells in the cerebellum. SCA6 is caused by CAG trinucleotide repeat expansion in CACNA1A, which encodes Cav2.1, ?1A subunit of P/Q-type calcium channel. However, the pathogenic ...
ORGANISM(S): Homo sapiens 
2016-11-08 | E-GEOD-85347 | biostudies-arrayexpress
UnknownATXN2 trinucleotide repeat length correlates with risk of ALS.
Not available
S-EPMC5302215 | biostudies-literature
TranscriptomicsmRNA-Seq Expression profiling of human post-mortem BA9 brain tissue for Huntington's Disease and neurologically normal individuals
Huntington’s Disease (HD) is a devastating neurodegenerative disorder that is caused by an expanded CAG trinucleotide repeat in the Huntingtin (HTT) gene. Transcriptional dysregulation in the human HD brain has been documented but is incompletely understood. Here we present a genome-wide analysis ...
ORGANISM(S): Homo sapiens 
2015-12-08 | E-GEOD-64810 | biostudies-arrayexpress
TranscriptomicsAnalyzing Presymptomatic Tissue to Gain Insights into Late-Onset Degenerative Trinucleotide Repeat Disease
How genetic defects trigger late-onset disease is important for understanding disease progression and therapeutic development. Fuchs’ endothelial corneal dystrophy (FECD) is an RNA-mediated disease caused by a trinucleotide CUG expansion in an intron within the TCF4 gene. The mutant intronic CUG RNA...
ORGANISM(S): Homo sapiens 
2020-05-06 | GSE142538 | GEO
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
UnknownDrugging DNA Damage Repair Pathways for Trinucleotide Repeat Expansion Diseases.
Not available
S-EPMC7990437 | biostudies-literature
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