Normal localization of ΔF323-Y328 mutant torsinA in transfected human cells
- 19 July 2002
- journal article
- research article
- Published by Elsevier in Neuroscience Letters
- Vol. 327 (2) , 75-78
- https://doi.org/10.1016/s0304-3940(02)00400-7
Abstract
No abstract availableKeywords
This publication has 9 references indexed in Scilit:
- TorsinA immunoreactivity in brains of patients with DYT1 and non- DYT1 dystoniaNeurology, 2002
- Transfected synphilin-1 forms cytoplasmic inclusions in HEK293 cellsPublished by Elsevier ,2001
- TorsinANeuron, 2001
- Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonismneurogenetics, 2001
- Torsin A and Its Torsion Dystonia-associated Mutant Forms Are Lumenal Glycoproteins That Exhibit Distinct Subcellular LocalizationsJournal of Biological Chemistry, 2000
- Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cellsHuman Molecular Genetics, 2000
- Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 MiceNeuron, 1999
- Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onsetAnnals of Neurology, 1998
- The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding proteinNature Genetics, 1997