title: Normal localization of deltaF323-Y328 mutant torsinA in transfected human cells.
abstract: Two mutations in torsinA have been identified to date, both of which are associated with an autosomal dominant form of early onset-dystonia. It has been reported previously that expression of the more common mutation, a deletion of one of a pair of glutamates (deltaE302/303) produces intracellular, endoplasmic reticulum-derived inclusions in cultured cells. In this study we have replicated these previous results and have additionally looked at the localization of the more recently described deltaF323-Y328 mutation. We show that the localization of this latter mutation is similar to wild type torsinA and unlike the deltaE302/303 mutation. This data suggests that the formation of intracellular inclusions is specific to deltaE302/303 and not a property shared by deltaF323-Y328.
authors.affiliation: Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
authors.forename: Casey
authors.initials: C
authors.lastname: O'Farrell
authors.forename: Dena G
authors.initials: DG
authors.lastname: Hernandez
authors.forename: Crystal
authors.initials: C
authors.lastname: Evey
authors.forename: Andrew B
authors.initials: AB
authors.lastname: Singleton
authors.forename: Mark R
authors.initials: MR
authors.lastname: Cookson
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D002352:Carrier Proteins / Q000032:analysis / Q000235:genetics*; D002478:Cells, Cultured; D003593:Cytoplasm / Q000737:chemistry; D018076:DNA, Complementary / Q000235:genetics; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D015870:Gene Expression; D006801:Humans; D002479:Inclusion Bodies / Q000737:chemistry; D007668:Kidney / Q000166:cytology; D018832:Molecular Chaperones; D008969:Molecular Sequence Data; D016297:Mutagenesis, Site-Directed; D014162:Transfection
chemical_list: D002352:Carrier Proteins; D018076:DNA, Complementary; D018832:Molecular Chaperones; C108175:TOR1A protein, human