Llwytho...

Mislocalization to the nuclear envelope: An effect of the dystonia-causing torsinA mutation

Primary dystonia is a disease characterized by involuntary twisting movements caused by CNS dysfunction without underlying histopathology. DYT1 dystonia is a form of primary dystonia caused by an in-frame GAG deletion (ΔE302/3) in the TOR1A gene that encodes the endoplasmic reticulum luminal protein...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Proc Natl Acad Sci U S A
Prif Awduron: Goodchild, Rose E., Dauer, William T.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: National Academy of Sciences 2004
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC321769/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/14711988/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.0304375101
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