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Examining differentially expressed genes and pathways within the striatum using a rodent model of DYT-TOR1A dystonia

ABSTRACT: Examining differentially expressed genes and pathways within the striatum using a rodent model of DYT-TOR1A dystonia

PROVIDER: PRJNA1051580 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR27186700.fastq.gz	Fastqsanger.gz
	SRR27186701.fastq.gz	Fastqsanger.gz
	SRR27186702.fastq.gz	Fastqsanger.gz
	SRR27186703.fastq.gz	Fastqsanger.gz
	SRR27186704.fastq.gz	Fastqsanger.gz

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Examining differentially expressed genes and pathways within the striatum using a rodent model of DYT-TOR1A dystonia

Project description: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 traumatic environmental stimulus was previously shown to induce dystonia-like movements (DLM) in the asymptomatic DYT-TOR1A rat model (∆ETorA). The primary objective of this study was to assess the underlying pathophysiological mechanisms associated with DYT1 dystonia using this “second hit” DYT1 rodent model. The striatum, as one of the pathophysiologic key structures of dystonia, was analysed twelve weeks after nerve injury by unbiased RNA-sequencing in order to identify differentially expressed genes (DEG) and pathways.

2024-12-31 | GSE249994 | GEO

Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model (miRNA-Seq)

Project description: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

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Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model (RNA-Seq)

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Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model

Project description: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 a dystonic phenotype. In the present study, we induced a sciatic nerve crush injury in a genetically predisposed DYT-TOR1A mouse model (DYT1KI) to evoke a dystonic phenotype. Subsequently, we employed a multi-omic approach to uncover novel pathophysiological pathways associated with DYT-TOR1A dystonia. Utilizing a deep-learning-based characterization of the dystonic phenotype, we observed that nerve-injured DYT1KI animals exhibited significantly more dystonia-like movement (DLM) compared to naive DYT1KI animals, with noticeable effects as early as two weeks post-surgery. Moreover, nerve-injured DT1KI mice displayed significantly more DLM than their wildtype (wt) counterparts starting 6 weeks post-injury. In the cerebellum of nerve-injured wt mice, multi-omice analysis indicated regulatory changes in translation-related processes, a phenomenon not observed in the cerebellum of nerve-injured DYT1KI mice; instead, these changes were localized to the cortex and striatum. Our findings suggest a failure of translational compensatory mechanisms in the cerebellum of phenotypic DY1KI mice displaying DLM, while dysregulations in translation in the cortex and striatum likely contribute to the promotion of the dystonic phenotype.

2024-03-05 | PXD047531 | Pride

Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model

Project description:Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model

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Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model (RNA-Seq)

Project description:Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model (RNA-Seq)

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Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model (miRNA-Seq)

Project description:Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model (miRNA-Seq)

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A ROLE FOR DYSTONIA-ASSOCIATED GENES IN SPINAL GABAERGIC INTERNEURON CIRCUITRY

Project description:Spinal interneurons are critical modulators of locomotor circuit function. In the dorsal spinal cord, a set of interneurons called GABApre presynaptically inhibits proprioceptive sensory afferent terminals, thus negatively regulating sensory-motor signaling. While deficits in presynaptic inhibition have been inferred in human locomotor diseases, including dystonia, it remains unknown whether GABApre circuit components are altered in these conditions. In this study, we use developmental timing to show that GABApre neurons are a late Ptf1a-expressing subclass and localize to the intermediate spinal cord. Using a microarray screen to identify genes expressed in this intermediate population, we find the kelch-like family member Klhl14, implicated in dystonia through its direct binding with torsion-dystonia related protein Tor1a. Furthermore, in Tor1a mutant mice in which Klhl14 and Tor1a binding is disrupted (Dyt1ΔE), GABApre-sensory afferent synapse formation is impaired. Our findings suggest a potential contribution of GABApre neurons to the deficits in presynaptic inhibition observed in dystonia.

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Peripheral nerve injury induces dystonia-like movements and dysregulation in the energy metabolism: A multi-omics descriptive study in Thap1+/− mice

Project description:To elicit a dystonia-like phenotype in a genetically predisposed DYT-THAP1 mouse model (Thap1+/-) 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

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Peripheral nerve injury induces dystonia-like movements and dysregulation in the energy metabolism: A multi-omics descriptive study in Thap1+/- mice

Project description:To elicit a dystonia-like phenotype in a genetically predisposed DYT-THAP1 mouse model (Thap1+/-) by performing a right sciatic nerve crush injury.

2025-01-03 | GSE273219 | GEO

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