Recombinant Mouse Torsin-1A (Tor1a)

1. TorsinA was post-transcriptionally upregulated upon acute ER stress, suggesting a role in this response. Increased basal phosphorylation of eIF2alpha in DYT1 transgenic rats was associated with abnormal response to acute ER stress. Unbiased RNA-Seq-based transcriptomic analysis of embryonic brain tissue in heterozygous and homozygous DYT1 knockin mice confirmed presence of eIF2alpha dysregulation in the DYT1 brain. PMID: 29289717
2. Results show that direct pathological insult to forebrain torsinA in a symptomatic mouse model of DYT1 dystonia can engage genetically normal hindbrain regions into an aberrant connectivity network. These findings have important implications for the assignment of a causative region in CNS disease. PMID: 28673740
3. 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 PMID: 27404940
4. TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models PMID: 27168150
5. 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. PMID: 28198698
6. Purkinje cells (PC) express high levels of TA also in the spines and axonal terminals. In addition, abundant expression of the protein was found in the main GABA-ergic and glutamatergic inputs of the cerebellar cortex. Finally, TA was observed also in glial cells, a cellular population little explored so far. These results extend our knowledge on TA synaptic localization providing a clue to its potential role in synaptic PMID: 23840813
7. 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 PMID: 27716431
8. The nuclear envelope-localized AAA+ (ATPase associated with various cellular activities) torsinA (TA) and its activator, the inner nuclear membrane protein lamina-associated polypeptide 1 (LAP1), are required for rearward nuclear movement. PMID: 28242745
9. This processing occurs not only in stress-exposed cell lines but also in primary cells from distinct organisms including stimulated B cells, indicating that Torsin conversion in response to physiologically relevant stimuli is an evolutionarily conserved process. PMID: 26953341
10. Authors find no effect of this anatomic-specific expression of the DYT1 genotype. PMID: 26370418
11. The data suggest that LULL1 oligomerizes to engage and transiently disassemble torsinA oligomers, and is thereby positioned to transduce cytoplasmic signals to the inner nuclear membrane through torsinA. PMID: 26092934
12. 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. PMID: 26052670
13. maintaining an appropriate torsinA level is important to sustain normal motor performance, synaptic transmission and plasticity PMID: 25799505
14. Dyt1 KI mice exhibit decreased striatal dopamine receptor 1 binding activity and D1R 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. PMID: 25451552
15. 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 PMID: 24937429
16. 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. PMID: 24121114
17. the mutation only slightly increases the excitability of striatal GABAergic neurons in DYT1 dystonia. PMID: 24260480
18. detected differences in spontaneous locomotion between aged torsinA(DeltaE) KI-Fbg1 knock out and control mice PMID: 22917612
19. The substantia nigra expression of torsinA does not protect against experimental Parkinson's disease in mice. PMID: 23185535
20. Studies of the Tor1A-/- embryo show that torsinA may regulate interkinetic nuclear migration in progenitor cells & migration of newly generated neurons in the dorsal & basal forebrain. Neurogenesis is not impaired. PMID: 23018676
21. These studies suggest the DYT1 mutation does not sensitize central neurons against the toxic effects of oxidative stress and energy deficits. PMID: 22880064
22. ese results demonstrate a cell-autonomous effect of torsin1a deletion on striatal cholinergic function PMID: 22579992
23. Mutations in torsin A gene lead to more frequent glutamate release in hippocampal neurons. PMID: 22588999
24. Dyt1 Purkinje cell-specific knockout mice exhibited significantly less slip numbers in the beam-walking test, suggesting better motor performance than control littermates, and normal gait. PMID: 22391119
25. Genetic background modulates the phenotype of a mouse model of DYT1 dystonia PMID: 22393392
26. Results suggest that torsinA regulates synaptic vesicle recycling in central neurons and indicate that this regulation is influenced by neuronal activity, supporting the idea that synaptic abnormalities contribute to the pathophysiology of DYT1 dystonia. PMID: 22213465
27. the loss of striatal torsinA alone is sufficient to produce motor deficits, and this effect may be mediated, at least in part, through changes in D2R function in the basal ganglia circuit PMID: 21931745
28. The disease causing torsinA-DeltaE mutation promotes an association between torA and SUN1 that is distinct to the interaction between LAP1 and ATP-bound torA. PMID: 21627841
29. These results suggest that the torsinA is important for the proper development of the cerebellum and a loss of this function in the Purkinje cells results in an alteration in dendritic structure. PMID: 21479250
30. Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice. PMID: 21464304
31. TorsinA is a homeostatic regulator of endoplasmic reticulum stress response. PMID: 20584926
32. Wild-type Torsin A has the capacity to protect cortical neurons against oxidative stress, and in the development of DYT1-delta GAG-dystonia the neuroprotective function of wild-type Torsin A may be compromised. PMID: 20455020
33. Tor1a(DeltaE/DeltaE) neural selective phenotype therefore arises because high levels of torsinB protect nonneuronal cells from the consequences of torsinA dysfunction. PMID: 20457914
34. We conclude that overexpression of human wild-type or mutant torsinA does not affect the survival of adult newborn neurons. PMID: 19829161
35. These results suggest that the Dyt1 DeltaGAG mutation increased the activity of the CE and enhanced the acquisition of the cued fear memory. PMID: 19619587
36. TorsinA is significantly increased in the brain within hours of treatment with the dopaminergic toxin, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine in mice, suggesting that the TorsinA gene is regulated by cellular stress. PMID: 14729251
37. identifed lamina-associated polypeptide 1 (LAP1) as a torsinA-interacting protein; also identifed a novel transmembrane protein, lumenal domain like LAP1 (LULL1), which also appears to interact with torsinA PMID: 15767459
38. These observations demonstrate that neurons have a unique requirement for nuclear envelope localized torsinA function and suggest that loss of this activity is a key molecular PMID: 16364897
39. torsinA expression was highest in the cerebral cortex from embryonic day 15 (E15)-E17 and in the striatum from E17-P7,also highly expressed in the thalamus from P0-P7 and in the cerebellum from P7-P14. PMID: 16458269
40. dyt1 knockdown mice exhibited deficits in motor control and a decreased trend in dopamine with a significant reduction in 3,4-dihydroxyphenylacetic acid PMID: 17046090
41. These studies demonstrate the exquisite sensitivity of this reporter system for quantitation of processing through the secretory pathway and support a role for torsinA as an endoplasmic reticulum chaperone protein. PMID: 17428918
42. Results suggest that the loss of torsinA function in the cerebral cortex alone is sufficient to induce behavioural deficits associated with Dyt1 DeltaGAG knockin mutation. PMID: 17956903
43. Identification of functional proximal 5'-upstream DYT1 DNA fragments demonstrates the Ets family of proteins as critical DYT1 transcriptional regulators. PMID: 18466338
44. TorsinA also associated with the KASH domains of nesprin-1 and -2 PMID: 18827015

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KEGG: mmu:30931

STRING: 10090.ENSMUSP00000028200

UniGene: Mm.154994