TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models
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چکیده
منابع مشابه
Pre-Synaptic Release Deficits in a DYT1 Dystonia Mouse Model
DYT1 early-onset generalized torsion dystonia (DYT1 dystonia) is an inherited movement disorder caused by mutations in one allele of DYT1 (TOR1A), coding for torsinA. The most common mutation is a trinucleotide deletion (ΔGAG), which causes a deletion of a glutamic acid residue (ΔE) in the C-terminal region of torsinA. Although recent studies using cultured cells suggest that torsinA contribute...
متن کاملTransgenic mouse model of early-onset DYT1 dystonia.
Early-onset dystonia is an autosomal dominant movement disorder associated with deletion of a glutamic acid residue in torsinA. We generated four independent lines of transgenic mice by overexpressing human DeltaE-torsinA using a neuron specific enolase promoter. The transgenic mice developed abnormal involuntary movements with dystonic-appearing, self-clasping of limbs, as early as 3 weeks aft...
متن کاملDopamine Receptor and Gα(olf) Expression in DYT1 Dystonia Mouse Models during Postnatal Development
BACKGROUND DYT1 dystonia is a heritable, early-onset generalized movement disorder caused by a GAG deletion (ΔGAG) in the DYT1 gene. Neuroimaging studies and studies using mouse models suggest that DYT1 dystonia is associated with dopamine imbalance. However, whether dopamine imbalance is key to DYT1 or other forms of dystonia continues to be debated. METHODOLOGY/PRINCIPAL FINDINGS We used Dy...
متن کاملRelative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA.
A three base-pair deletion in the widely expressed TOR1A gene causes the childhood onset, neurological disease of DYT1 dystonia. Mouse Tor1a gene knockout also specifically affects the developing nervous system. However, in both cases, the basis of neuronal tissue specificity is unknown. TorsinA is one of four predicted mammalian torsin ATPases associated with assorted cellular activities (AAA+...
متن کاملDYT1 dystonia increases risk taking in humans
It has been difficult to link synaptic modification to overt behavioral changes. Rodent models of DYT1 dystonia, a motor disorder caused by a single gene mutation, demonstrate increased long-term potentiation and decreased long-term depression in corticostriatal synapses. Computationally, such asymmetric learning predicts risk taking in probabilistic tasks. Here we demonstrate abnormal risk tak...
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ژورنال
عنوان ژورنال: eLife
سال: 2020
ISSN: 2050-084X
DOI: 10.7554/elife.54285