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

doi:10.1016/j.neuron.2017.07.025

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Article

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

Neuron - 16 Aug 2017

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, Rademakers Rosa

Abstract excerpt

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...

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PMID: 28817800
DOI: 10.1016/j.neuron.2017.07.025
PMCID: PMC5576574

Genes

TIA1

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