Document Type
Article
Publication Date
8-16-2017
Abstract
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and overlapping clinical and pathological features. Here we studied a novel ALS/FTD family and identified the P362L mutation in the low-complexity domain (LCD) of T cell-restricted intracellular antigen-1 (TIA1). Subsequent genetic association analyses showed an increased burden of TIA1 LCD mutations in ALS patients compared to controls (p = 8.7 × 10
Recommended Citation
Mackenzie, Ian R.; Nicholson, Alexandra M.; Sarkar, Mohona; Messing, James; Purice, Maria D.; Pottier, Cyril; Annu, Kavya; Baker, Matt; Perkerson, Ralph B.; Kurti, Aishe; Matchett, Billie J.; Mittag, Tanja; Temirov, Jamshid; Hsiung, Ging-Yuek R.; Krieger, Charles; Murray, Melissa E.; Kato, Masato; Fryer, John D.; Petrucelli, Leonard; Zinman, Lorne; Weintraub, Sandra; Mesulam, Marsel; Keith, Julia; Zivkovic, Sasha A.; Hirsch-Reinshagen, Veronica; Roos, Raymond P.; Züchner, Stephan; Graff-Radford, Neill R.; Petersen, Ronald C.; Caselli, Richard J.; Wszolek, Zbigniew K.; Finger, Elizabeth; Lippa, Carol; Lacomis, David; Stewart, Heather; Dickson, Dennis W.; Kim, Hong Joo; Rogaeva, Ekaterina; Bigio, Eileen; Boylan, Kevin B.; Taylor, J. Paul; and Rademakers, Rosa, "TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics." (2017). Department of Neurology Faculty Papers. Paper 168.
https://jdc.jefferson.edu/neurologyfp/168
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.
PubMed ID
28817800
Language
English
Comments
This article has been peer reviewed. It is the authors' final version prior to publication in Neuron, Volume 95, Issue 4, August 2017, Pages 808-816.e9
The published version is available at https://doi.org/10.1016/j.neuron.2017.07.025. Copyright © Elsevier