Interaction of torsinA with its major binding partners is impaired by the dystonia-associated ΔGAG deletion
TV Naismith, S Dalal, PI Hanson - Journal of biological chemistry, 2009 - ASBMB
Early onset (DYT1) torsion dystonia is a dominantly inherited movement disorder associated
with a three-base pair (ΔGAG) deletion that removes a glutamic acid residue from the protein
torsinA. TorsinA is an essential AAA+(ATPases associated with a variety of cellular activities)
ATPase found in the endoplasmic reticulum and nuclear envelope of higher eukaryotes, but
what it does and how changes caused by the ΔGAG deletion lead to dystonia are not known.
Here, we asked how the DYT1 mutation affects association of torsinA with interacting …
with a three-base pair (ΔGAG) deletion that removes a glutamic acid residue from the protein
torsinA. TorsinA is an essential AAA+(ATPases associated with a variety of cellular activities)
ATPase found in the endoplasmic reticulum and nuclear envelope of higher eukaryotes, but
what it does and how changes caused by the ΔGAG deletion lead to dystonia are not known.
Here, we asked how the DYT1 mutation affects association of torsinA with interacting …
