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Er-Localized Lull1 Function Is Required For The Abnormal Inm Concentration Of Disease-Related Delta-E Torsina, Kristen Nicole Holbrook
Er-Localized Lull1 Function Is Required For The Abnormal Inm Concentration Of Disease-Related Delta-E Torsina, Kristen Nicole Holbrook
Masters Theses
DYT1 dystonia is an autosomal dominant neurological disease caused by a single amino acid deletion in the protein torsinA, resulting in expression of a mutant ΔE [delta E] torsinA isoform in DYT1 patients. Research has consistently found ΔE [delta E] torsinA abnormally concentrated in the nuclear envelope (NE) lumen of the endoplasmic reticulum (ER), and this has led to the hypothesis NE accumulation of ΔE [delta E] torsinA may underlie disease pathogenesis.
We first investigated where and how ΔE [delta E] NE accumulation occurs. We found that ΔE [delta E] torsinA accumulates at the inner nuclear membrane (INM) NE subdomain. …