Cargando…
DYT1 Dystonia Patient-Derived Fibroblasts Have Increased Deformability and Susceptibility to Damage by Mechanical Forces
DYT1 dystonia is a neurological movement disorder that is caused by a loss-of-function mutation in the DYT1/TOR1A gene, which encodes torsinA, a conserved luminal ATPases-associated with various cellular activities (AAA+) protein. TorsinA is required for the assembly of functional linker of nucleosk...
Autores principales: | Gill, Navjot Kaur, Ly, Chau, Kim, Paul H., Saunders, Cosmo A., Fong, Loren G., Young, Stephen G., Luxton, G. W. Gant, Rowat, Amy C. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606767/ https://www.ncbi.nlm.nih.gov/pubmed/31294022 http://dx.doi.org/10.3389/fcell.2019.00103 |
Ejemplares similares
-
TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models
por: Li, Jay, et al.
Publicado: (2020) -
Molecular basis of DYT1 and DYT6 primary dystonia in Indian patients
por: Giri, Subhajit, et al.
Publicado: (2014) -
Naming Genes for Dystonia: DYT-z or Ditzy?
por: Mencacci, Niccolo E., et al.
Publicado: (2019) -
Gait Impairment in Myoclonus–Dystonia (DYT-SGCE)
por: Haeri, Ghazal, et al.
Publicado: (2019) -
Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11
por: Wang, Jia-Wei, et al.
Publicado: (2017)