Publication details

Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome

Authors

ČIERNY Marek HOOSHMAND Sam I FEE Dominic TRIPATHI Swarnendu DSOUZA Nikita R KIRSCHNER Alison La Pean ZIMMERMANN Michael T BRENNAN Ryan

Year of publication 2020
Type Article in Periodical
Magazine / Source PARKINSONISM & RELATED DISORDERS
Citation ČIERNY, Marek, Sam I HOOSHMAND, Dominic FEE, Swarnendu TRIPATHI, Nikita R DSOUZA, Alison La Pean KIRSCHNER, Michael T ZIMMERMANN and Ryan BRENNAN. Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome. PARKINSONISM & RELATED DISORDERS. OXFORD: ELSEVIER SCI LTD, 2020, vol. 77, p. 110-113. ISSN 1353-8020. Available from: https://dx.doi.org/10.1016/j.parkreldis.2020.06.006.
web https://www.sciencedirect.com/science/article/pii/S1353802020301711
Doi http://dx.doi.org/10.1016/j.parkreldis.2020.06.006
Keywords Atypical parkinsonism; DCTN1; Dynactin; Genetics; Perry disease; Perry syndrome; Microtubules; Type 2 respiratory failure; Autophagy; Nocturnal hypopnea; p150(Glued); Protein stability; Predicted folding free energy; Protein modeling; Microtubule associated protein RP/EB family member 1; EB1
Description Introduction: Perry syndrome, also recognized as Perry disease, is a rare autosomal dominant disorder characterized by midlife-onset atypical parkinsonism, apathy or depression, respiratory failure and weight loss caused by a mutation in the Dynactin (DCTN1) gene.

You are running an old browser version. We recommend updating your browser to its latest version.

More info

By clicking “Accept Cookies”, you agree to the storing of cookies on your device to enhance site navigation, analyze site usage, and assist in our marketing efforts. Cookie Settings

Necessary Only Accept Cookies