TorsinA is essential for neuronal nuclear pore complex ... - Nature
2024年8月8日 · WT, torsinA-KO and torsinA-ΔE/ΔE exhibited similar Nup153 nuclear rim intensity (Fig. 3j,k), indicating that the ΔE mutation, similar to torsinA-KO, impacts NPC localization …
The AAA + ATPase TorsinA polymerizes into hollow helical tubes …
2019年7月22日 · TorsinA is an ER-resident AAA + ATPase, whose deletion of glutamate E303 results in the genetic neuromuscular disease primary dystonia. TorsinA is an unusual AAA + …
Nat Cell Biol | TorsinA 在神经元核孔复合物定位和成熟中的关键作用
2024年9月11日 · 这些结果表明，TorsinA对于NPC装配的时间进程至关重要，但其缺失并不会完全阻止NPC的生成。 综上所述，研究人员采用包括超分辨显微镜 （SIM） 与扫描透射电子显微 …
TOR1A gene - MedlinePlus
TorsinA may also play a role in stress response signaling. TorsinA is active in many of the body's tissues, and it is particularly important for the normal function of nerve cells (neurons) in the …
TorsinA: movement at many levels - PubMed
2001年7月19日 · TorsinA is the causative protein in the human neurologic disease early onset torsin dystonia, a movement disorder involving dysfunction in the basal ganglia without …
TorsinA participates in endoplasmic reticulum-associated
2011年7月12日 · TorsinA is an AAA+ ATPase located within the lumen of the endoplasmic reticulum and nuclear envelope, with a mutant form causing early onset torsion dystonia …
1861 - Gene ResultTOR1A torsin family 1 member A [ (human)]
TorsinA may contribute to maintaining site-directed polarization and control neurite outgrowth. Analysis of recombinant torsinA and its deltaE (302/303) dystonia-associated mutant reveals …
Structures of TorsinA and its disease-mutant complexed with an ...
Nevertheless, publication is warranted owing to: 1) the enzyme's importance (TorsinA has an intriguing, but poorly characterized role in nuclear membrane budding processes and it's …
TorsinA: Neuron - Cell Press
2001年7月19日 · TorsinA is the causative protein in the human neurologic disease early onset torsin dystonia, a movement disorder involving dysfunction in the basal ganglia without …
TorsinA is essential for the timing and localization of neuronal ...
In maturing torsinA-KO neurons, NPCs form abnormally close to one another, implicating torsinA as a determinant of nascent NPC localization in neurons. We considered the possibility of …