TY - JOUR
T1 - Biochemical characterization of torsinB
AU - O'Farrell, Casey
AU - Lockhart, Paul J.
AU - Lincoln, Sarah
AU - De Lucia, Michael
AU - Singleton, Andrew B.
AU - Dickson, Dennis W.
AU - Cookson, Mark R.
PY - 2004/8/23
Y1 - 2004/8/23
N2 - Mutations in torsinA, a member of the AAA+ family of ATPases, are associated with early onset-dystonia. A closely related homologue, torsinB, has also been described but the significance of this second form is not clear. Here, we demonstrate that in transfected cells, torsinB has similar electrophoretic mobility to torsinA but is more basic consistent with predictions from the cDNA sequence. Like torsinA, torsinB is glycosylated and localized to PDI-positive structures in cells. However, torsinB unlike torsinA has a tendency to form intracellular inclusions when expressed at similar levels. We were able to confirm previous reports that torsinA is present in brainstem Lewy bodies, but we saw no torsinB-like immunoreactivity in the same structures. These results show that torsins A and B are similar proteins, although there are differences in the abundance of the two homologues and in their recruitment into Lewy bodies.
AB - Mutations in torsinA, a member of the AAA+ family of ATPases, are associated with early onset-dystonia. A closely related homologue, torsinB, has also been described but the significance of this second form is not clear. Here, we demonstrate that in transfected cells, torsinB has similar electrophoretic mobility to torsinA but is more basic consistent with predictions from the cDNA sequence. Like torsinA, torsinB is glycosylated and localized to PDI-positive structures in cells. However, torsinB unlike torsinA has a tendency to form intracellular inclusions when expressed at similar levels. We were able to confirm previous reports that torsinA is present in brainstem Lewy bodies, but we saw no torsinB-like immunoreactivity in the same structures. These results show that torsins A and B are similar proteins, although there are differences in the abundance of the two homologues and in their recruitment into Lewy bodies.
KW - DYT1
KW - Disorders of the nervous system
KW - Dystonia
KW - Genetic models
KW - Glycosylation
KW - Lewy bodies
KW - Torsin
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U2 - 10.1016/j.molbrainres.2004.05.005
DO - 10.1016/j.molbrainres.2004.05.005
M3 - Article
C2 - 15306116
AN - SCOPUS:4043099627
SN - 0169-328X
VL - 127
SP - 1
EP - 9
JO - Molecular Brain Research
JF - Molecular Brain Research
IS - 1-2
ER -