Article

Transcriptome profiles in brains of mice heterozygous for a DYT1 dystonia-associated mutation in the endogenous <i>Tor1a</i> gene

2019-10-31

Abstract excerpt

<h4>ABSTRACT</h4> In patients with the brain disorder dystonia, body movement is severely affected – with involuntary muscle contractions and abnormal postures, causing extensive deterioration of the patient’s quality of life. The most common inherited form of this disorder is DYT1 dystonia, which is caused by a mutation in TOR1A gene and autosomal dominant. The molecular mechanisms that underlie the effects of...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e9bff8a0-e9ae-538a-a6ca-0616ca0b99d2
DOI: 10.1101/825505

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Transcriptome profiles in brains of mice heterozygous for a DYT1 dystonia-associated mutation in the endogenous <i>Tor1a</i> geneDOI 10.1101/825505Read

A novel conditional knock-in approach defines molecular and circuit effects of the DYT1 dystonia mutation.Semantic proximity Read

Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models.Semantic proximity Read

Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA.Semantic proximity Read

Genetic background modulates the phenotype of a mouse model of DYT1 dystonia.Semantic proximity Read

The zebrafish homologue of the human DYT1 dystonia gene is widely expressed in CNS neurons but non-essential for early motor system development.Semantic proximity Read

Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice.Semantic proximity Read

Lipid metabolic stress in development defines which genetically-susceptible DYT- <i>TOR1A</i> mice develop diseaseSemantic proximity Read

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

Dopamine receptor and Gα(olf) expression in DYT1 dystonia mouse models during postnatal development.Semantic proximity Read

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.Semantic proximity Read

Transgenic mouse model of early-onset DYT1 dystoniaSemantic proximity Read

Motor Deficits and Hyperactivity in Cerebral Cortex-specific Dyt1 Conditional Knockout MiceSemantic proximity Read