Article

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

2008-05-01

Abstract excerpt

Primary torsion dystonia is an autosomal-dominantly inherited, neurodevelopmental movement disorder caused by a GAG deletion (deltaGAG) in the DYT1 gene, encoding torsinA. This mutation is responsible for approximately 70% of cases of early-onset primary torsion dystonia. The function of wildtype torsinA is still unknown, and it is unsolved how the deletion in the DYT1 gene contributes to the development of the di...

Topics

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

Identifiers and source

Literature Corpus work: f4f28f94-ef27-55c9-b2bd-214cd78efbca
DOI: 10.1002/prca.200780053

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA.DOI 10.1002/prca.200780053Read

Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities.Semantic proximity Read

Transgenic mouse model of early-onset DYT1 dystoniaSemantic proximity Read

Impaired Motor Learning in Mice Expressing TorsinA with the DYT1 Dystonia MutationSemantic proximity Read

Expression of the early‐onset torsion dystonia gene (DYT1) in human brainSemantic proximity Read

TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion.Semantic proximity Read

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

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells.Semantic proximity Read

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

Genetics of dystonia: an overview.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

Motor deficits and hyperactivity in Dyt1 knockdown mice.Semantic proximity Read

A Novel Transgenic Mouse Model to Investigate the Cell-Autonomous Effects of torsinA(ΔE) Expression in Striatal Output Neurons.Semantic proximity Read