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ProteomicsGene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model
DYT-TOR1A dystonia is a movement disorder characterized by involuntary muscle contractions. Despite being the most common monogenetic form of dystonia, its pathophysiolofy remains unclear. With a reduced penetrance of about 30%, there is a suggestion that extragenetic factors are needed to develeop ...
ORGANISM(S): Mus musculus (Mouse) 
2024-03-05 | PXD047531 | Pride
Second-hit hypothesis Multi-omic Dyt-tor1a 
GenomicsTranscriptomic profiling of DYT-TOR1A patients-derived iPSC reveals dysregulation in extracellular matrix, lipid metabolism, and Chr22q11.23
Transcriptomic profiling of DYT-TOR1A patients-derived iPSC reveals dysregulation in extracellular matrix, lipid metabolism, and Chr22q11.23
PRJNA1291185 | ENA
GenomicsExamining differentially expressed genes and pathways within the striatum using a rodent model of DYT-TOR1A dystonia
Examining differentially expressed genes and pathways within the striatum using a rodent model of DYT-TOR1A dystonia
PRJNA1051580 | ENA
TranscriptomicsTranscriptomic profiling of DYT-TOR1A patients-derived iPSC reveals dysregulation in extracellular matrix, lipid metabolism, and Chr22q11.23
DYT-TOR1A is an early-onset generalised movement disorder characterised by involuntary muscle contractions, leading to abnormal postures and repetitive movements. The trinucleotide GAG in-frame deletion (ΔGAG) in the TOR1A gene is the most common Mendelian form of dystonia. The TOR1A gene encodes fo...
ORGANISM(S): Homo sapiens 
2025-10-01 | GSE302557 | GEO
TranscriptomicsExamining differentially expressed genes and pathways within the striatum using a rodent model of DYT-TOR1A dystonia
DYT-TOR1A (DYT1) is the most common monogenetic form of dystonia characterized by a reduced disease penetrance of 30-40% only. Environmental factors are suspected to play a major role in eliciting dystonia in DYT1 gene carriers. In line with this observation a sciatic nerve crush injury as a traumat...
ORGANISM(S): Rattus norvegicus 
2024-12-31 | GSE249994 | GEO
TranscriptomicsGene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model (RNA-Seq)
To elicit a dystonia-like phenotype in a genetically predisposed DYT-TOR1A mouse model (DYT1KI) by performing a right sciatic nerve crush injury. To identify novel pathophysiological pathways and possible biomarker, we performed a multi-omic analysis of three dystonia-relevant brain regions
ORGANISM(S): Mus musculus 
2024-03-05 | GSE249875 | GEO
GenomicsGene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model (miRNA-Seq)
To elicit a dystonia-like phenotype in a genetically predisposed DYT-TOR1A mouse model (DYT1KI) by performing a right sciatic nerve crush injury. To identify novel pathophysiological pathways and possible biomarker, we performed a multi-omic analysis of three dystonia-relevant brain regions
ORGANISM(S): Mus musculus 
2024-03-05 | GSE249876 | GEO
GenomicsGene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model (RNA-Seq)
Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model (RNA-Seq)
PRJNA1051067 | ENA
GenomicsGene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model (miRNA-Seq)
Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model (miRNA-Seq)
PRJNA1051070 | ENA
UnknownDataset on the mass spectrometry-based proteomic profiling of mouse embryonic fibroblasts from a wild type and DYT-TOR1A mouse model of dystonia, basally and during stress.
Not available
S-EPMC8640233 | biostudies-literature
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