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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 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
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
ProteomicsDual FAN1 activities stabilize the HTT CAG repeat
Recent data strongly suggest HTT CAG repeat expansion drives Huntington’s disease (HD) pathogenesis and that disease development is modulated by components of the DNA damage response (DDR) pathway. FAN1 has been identified as a major HD modifier which slows expansion of the HTT CAG repeat in several...
ORGANISM(S): Homo sapiens (Human) 
2022-02-16 | PXD023221 | Pride
Crosslinking Fan1 
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
GenomicsThree-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion
Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion
PRJNA623390 | ENA
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
TranscriptomicsiPSC derived motor neuron cultures from C9ORF72 carriers
Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative condition characterized by loss of motor neurons in the brain and spinal cord. Expansions of a hexanucleotide repeat (GGGGCC) in the noncoding region of the C9ORF72 gene are the most common cause of the familial form of ALS (C9-ALS), ...
ORGANISM(S): Homo sapiens 
2013-11-07 | E-GEOD-52202 | biostudies-arrayexpress
GenomicsWhole exome sequencing in patients with ALS and concomitant FTD lacking the C9orf72 repeat expansion
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological and genetic continuum. The purpose of the present study was to assess the mutation burden that is present in ALS and/or FTD known disease-causing genes in 54 patients (16 with available postmor...
EGAS00001002439 | EGA
UnknownParkinson's disease associated with pure ATXN10 repeat expansion.
Not available
S-EPMC5585403 | biostudies-literature
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