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