TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.

Authors

• Ian R. Mackenzie, Vancouver Coastal Health and the University of British Colombia
• Alexandra M. Nicholson, Mayo Clinic Jacksonville
• Mohona Sarkar, St. Jude Children's Research Hospital
• James Messing, St. Jude Children's Research Hospital
• Maria D. Purice, St. Jude Children's Research Hospital
• Cyril Pottier, Mayo Clinic Jacksonville
• Kavya Annu, St. Jude Children's Research Hospital
• Matt Baker, Mayo Clinic Jacksonville
• Ralph B. Perkerson, Mayo Clinic Jacksonville
• Aishe Kurti, Mayo Clinic Jacksonville
• Billie J. Matchett, Mayo Clinic Jacksonville
• Tanja Mittag, St. Jude Children's Research Hospital
• Jamshid Temirov, St. Jude Children's Research Hospital
• Ging-Yuek R. Hsiung, Vancouver Coastal Health and the University of British Columbia
• Charles Krieger, Vancouver Coastal Health and the University of British Columbia; Simon Fraser University
• Melissa E. Murray, Mayo Clinic Jacksonville
• Masato Kato, University of Texas Southwestern Medical Center
• John D. Fryer, Mayo Clinic Jacksonville
• Leonard Petrucelli, Mayo Clinic Jacksonville
• Lorne Zinman, Sunnybrook Health Sciences Centre
• Sandra Weintraub, Northwestern University Feinberg School of Medicine
• Marsel Mesulam, Northwestern University Feinberg School of Medicine
• Julia Keith, Sunnybrook Health Sciences Centre; University of Toronto
• Sasha A. Zivkovic, University of Pittsburgh School of Medicine
• Veronica Hirsch-Reinshagen, Vancouver Coastal Health and the University of British Colombia
• Raymond P. Roos, University of Chicago
• Stephan Züchner, University of Miami Miller School of MedicineFollow
• Neill R. Graff-Radford, Mayo Clinic Jacksonville
• Ronald C. Petersen, Mayo Clinic Rochester
• Richard J. Caselli, Mayo Clinic Scottsdale
• Zbigniew K. Wszolek, Mayo Clinic Jacksonville
• Elizabeth Finger, University of Western Ontario
• Carol Lippa, Thomas Jefferson University; Drexel University College of MedicineFollow
• David Lacomis, University of Pittsburgh School of Medicine; University of Pittsburgh School of Medicine
• Heather Stewart, Vancouver Coastal Health and the University of British Columbia
• Dennis W. Dickson, Mayo Clinic Jacksonville
• Hong Joo Kim, St. Jude Children's Research Hospital
• Ekaterina Rogaeva, University of Toronto
• Eileen Bigio, Northwestern University Feinberg School of Medicine
• Kevin B. Boylan, Mayo Clinic Jacksonville
• J. Paul Taylor, St. Jude Children's Research Hospital; Howard Hughes Medical InstituteFollow
• Rosa Rademakers, Mayo Clinic Jacksonville

Document Type

Article

Publication Date

8-16-2017

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

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