The Schlieker lab discovered a key role for mysterious Torsin ATPases in nuclear pore biogenesis! This adds to the understanding of the severe movement disorder DYT1 Dystonia where TorsinA is mutated. Their study also established the first imaging platform to observe aberrations of nuclear envelope dynamics upon Torsin mutation in real time, enabling detailed cell biological and genetic studies to further dissect disease etiology in DYT1 dystonia. This is a collaborative paper with the Lusk laboratory (Cell Biology), stemming from Yale’s interdepartmental nucleus club.
Read the article here:
Torsin ATPase deficiency leads to defects in nuclear pore biogenesis and sequestration of MLF2
https://medicine.yale.edu/lab/schlieker/research/
By Ivy Huang