| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8285931 | Parkinsonism & Related Disorders | 2016 | 6 Pages |
Abstract
We have identified DCTN1 p.K56R in patients with PSP. This variant is immediately adjacent to the N-terminal p150glued 'CAP-Gly' domain, affects a highly conserved amino acid and alters the protein's affinity to microtubules and its cytoplasmic distribution.
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Authors
Emil K. Gustavsson, Joanne Trinh, Ilaria Guella, Chelsea Szu-Tu, Jaskaran Khinda, Chin-Hsien Lin, Ruey-Meei Wu, Jon Stoessl, Silke Appel-Cresswell, Martin McKeown, Alex Rajput, Ali H. Rajput, Maria Skaalum Petersen, Beom S. Jeon, Jan O. Aasly,