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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 (64) and many more products for this protein.
Showing 8 out of 9 products:
TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models
This study does not allow the establishment of genotype-specific clinical correlations for DYT1 in patient with isolated dystonia.
This study show both MDYT1 and without clinical symptoms showed an abnormally enhanced Abnormal blink (show TGFb Proteins) reflex recovery curve compared with the healthy controls. Moreover, the lack of a statistical difference between manifesting and nonmanifesting carriers suggests that their brainstem circuits are equivalently affected by the DYT1. gene
A comparison of these structures shows, in atomic detail, the subtle differences in TorsinADeltaE-LULL1 (show TOR1AIP2 Proteins) activator interactions that separate the healthy from the diseased state.
found that human Torsin1A and human FMRP (show FMR1 Proteins) were present in the same protein complexes, suggesting that this phenomenon is evolutionarily conserved
The significant association of rs1182 and rs1801968 TOR1A variants was found in the development of focal dystonia and writer's cramp respectively.
This study demonstrated that whole-exome sequencing show reveled TOR1A mutation with early-onset generalized dystonia.
This study showed that the Phosphodiesterase-10A (show PDE10A Proteins) Inverse Changes in Striatopallidal and Striatoentopeduncular Pathways of a Transgenic Mouse Model of DYT1 Dystonia.
Genetic screening targeted at currently known disease-causing mutations in TOR1A, THAP1 (show THAP1 Proteins), and TUBB4 (show TUBB3 Proteins) appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1 (show THAP1 Proteins).
there might not be an association between TOR1A or THAP1 (show THAP1 Proteins) and patients with adult-onset primary focal dystonia
that the deletion of a 3-base pair (DeltaGAG) sequence in the Dyt1 gene encoding torsinA has network level effects on in vivo functional connectivity and microstructural integrity across the sensorimotor cortex, basal ganglia, and cerebellum
Abnormal motor symptoms in DYT1 knockdown animals were associated with irregular cerebellar output caused by changes in the intrinsic activity of both Purkinje cells and neurons of the deep cerebellar nuclei.
Study linked the genetic defect of reduced torsinA expression in a DYT1 related mouse model to a maladaptive response of the striatal dopaminergic system after a peripheral nerve lesion and to the manifestation of dystonia-like movements
The nuclear envelope-localized AAA (show AAAS Proteins)+ (ATPase associated with various cellular activities) torsinA (TA) and its activator, the inner nuclear membrane protein lamina-associated polypeptide 1 (LAP1 (show TRAF3 Proteins)), are required for rearward nuclear movement.
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.
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