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The protein encoded by TOR1A is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Additionally we are shipping Torsin Family 1, Member A (Torsin A) Antibodies (58) and many more products for this protein.
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Our patient and three other reported carriers of non-c.907_909delGAG-mutations within the first three exons of TOR1A showed similar phenotypes of adult-onset focal or segmental cervical dystonia
the common rs2296793 and rs3842225 SNPs of TOR1A do not play a major role in cervical dystonia in a Chinese population.
Certain TOR1A genotypes may be regarded as factors predisposing to focal and segmental dystonia.
DYT1 mutations are associated with dystonia disorders
TorA(DeltaE) in Drosophila brains may activate the UPR and increase the expression of HSP22 to compensate for the toxic effects
The results of this study indicate that a loss of function of torsinA during cerebellar synaptogenesis induces important developmental alterations.
This review summarizes the current state of knowledge regarding the potential functions of torsin 1A in the context of hypothetical pathomechanisms responsible for torsion dystonia type 1.
study reports 2 new, putative TOR1A mutations (p.A14_P15del and p.E121K)in dystonia patients that were examined functionally compared with wild-type and 2 known mutations (DeltaE and p.R288Q); findings demonstrate functional changes for all 4 mutations on different levels
Data show that mutation of arginine 563 in lamina-associated polypeptide 1 (LAP1 (show ANPEP Proteins)) reduces its ability to stimulate TorsinA
DYT1 is caused by mutations of the TOR1A gene, located on 9q34, which causes dysfunction of the D1 direct pathway or the indirect pathway[review]
Authors find no effect of this anatomic-specific expression of the DYT1 genotype.
The data suggest that LULL1 (show TOR1AIP2 Proteins) oligomerizes to engage and transiently disassemble torsinA oligomers, and is thereby positioned to transduce cytoplasmic signals to the inner nuclear membrane through torsinA.
These findings demonstrate that dorsal dorsal striatal large cholinergic interneurons have a unique requirement for torsinA function during striatal maturation, and link abnormalities of these cells to dystonic-like movements.
maintaining an appropriate torsinA level is important to sustain normal motor performance, synaptic transmission and plasticity
Dyt1 KI mice exhibit decreased striatal dopamine receptor 1 binding activity and D1R (show DRD1 Proteins) protein levels, suggesting the alteration of the direct pathway. We developed a novel motor skill transfer test for mice and found deficits in Dyt1 KI mice.
cellular and molecular framework for how impaired torsinA function selectively disrupts neural circuits and raise the possibility that discrete foci of neurodegeneration may contribute to the pathogenesis of DYT1 dystonia
Results reveal subtle structural changes of the cerebellum that are similar to those reported for the basal ganglia in the DYT1 knock-in mouse model.
the mutation only slightly increases the excitability of striatal GABAergic neurons in DYT1 dystonia.
detected differences in spontaneous locomotion between aged torsinA(DeltaE) KI-Fbg1 (show FBXO2 Proteins) knock out and control mice
The substantia nigra expression of torsinA does not protect against experimental Parkinson's disease in mice.
This work reports the cloning and analysis of the porcine (Sus scrofa) homologue of TOR1A.
The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.
dystonia 1, torsion (autosomal dominant
, dystonia 1, torsion (autosomal dominant; torsin A)
, torsin A
, dystonia 1 protein
, torsin family 1 member A