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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. Zusätzlich bieten wir Ihnen Torsin Family 1, Member A (Torsin A) Antikörper (65) und Torsin Family 1, Member A (Torsin A) Proteine (9) und viele weitere Produktgruppen zu diesem Protein an.
A comparison of these structures shows, in atomic detail, the subtle differences in TorsinADeltaE-LULL1 (zeige TOR1AIP2 ELISA Kits) activator interactions that separate the healthy from the diseased state.
found that human Torsin1A and human FMRP (zeige FMR1 ELISA Kits) 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 (zeige PDE10A ELISA Kits) 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 (zeige THAP1 ELISA Kits), and TUBB4 (zeige TUBB3 ELISA Kits) appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1 (zeige THAP1 ELISA Kits).
there might not be an association between TOR1A or THAP1 (zeige THAP1 ELISA Kits) and patients with adult-onset primary focal dystonia
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.
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 (zeige AAAS ELISA Kits)+ (ATPase (zeige DNAH8 ELISA Kits) associated with various cellular activities) torsinA (TA) and its activator, the inner nuclear membrane protein lamina-associated polypeptide 1 (zeige CYP ELISA Kits) (LAP1 (zeige TRAF3 ELISA Kits)), are required for rearward nuclear movement.
Authors find no effect of this anatomic-specific expression of the DYT1 genotype.
The data suggest that LULL1 (zeige TOR1AIP2 ELISA Kits) 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 (zeige DRD1 ELISA Kits) 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.
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