TIA1 mutations in amyotrophic lateral sclerosis and frontotemporal dementia promote phase separation and alter stress granule dynamics

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 (...

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Published in:Neuron
Main Authors: 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., Zuchner, 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, Rademakers, Rosa
Format: Artigo
Language:Inglês
Published: 2017
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5576574/
https://ncbi.nlm.nih.gov/pubmed/28817800
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neuron.2017.07.025
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