Varaico: Literature-Extracted Genetic Variants

Gene:TIA1
Variant:p.P362L
Back to variants list

TIA1

NM_022173.4:p.P362L

Associated Papers

TIA1-mediated stress granules promote neurodegeneration by sequestering HSP70 mRNA in C9orf72 mice.

Wei Y et al.

Brain : a Journal of Neurology, 2025

Structural basis for T-cell intracellular antigen-1 amyloid fibril formation revealed by cryo-electron microscopy.

Inaoka D et al.

Pnas Nexus, 2025

Oxidative stress-induced stress granules: a central link to protein aggregation in neurodegenerative diseases.

Younas N et al.

Frontiers in Neuroscience, 2025

Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.

Luan T et al.

Neuroscience Bulletin, 2024

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.

Feng M et al.

Nature Communications, 2024

39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations

An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.

Snyder A et al.

Research Square, 2023

Stress-mediated aggregation of disease-associated proteins in amyloid bodies.

Chandhok S et al.

Scientific Reports, 2023

Liquid Droplet Aging and Seeded Fibril Formation of the Cytotoxic Granule Associated RNA Binding Protein TIA1 Low Complexity Domain.

Wittmer Y et al.

Journal of the American Chemical Society, 2023

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Two predicted α-helices within the prion-like domain of TIAR-1 play a crucial role in its association with stress granules in Caenorhabditis elegans.

Fuentes-Jiménez DA et al.

Frontiers in Cell and Developmental Biology, 2023

ALS mutations in the TIA-1 prion-like domain trigger highly condensed pathogenic structures.

Sekiyama N et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Kirola L et al.

Molecular Neurobiology, 2022

Pathological phase transitions in ALS-FTD impair dynamic RNA-protein granules.

Nedelsky NB et al.

Rna (new York, N.y.), 2022

Stress granule subtypes: an emerging link to neurodegeneration.

Advani VM et al.

Cellular and Molecular Life Sciences : Cmls, 2020

Genetic architecture of common non-Alzheimer's disease dementias.

Guerreiro R et al.

Neurobiology of Disease, 2020

Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum.

Baradaran-Heravi Y et al.

Neurobiology of Disease, 2020

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.

Orme T et al.

Acta Neuropathologica Communications, 2020

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients.

Baradaran-Heravi Y et al.

Neurobiology of Aging, 2018

ALS Genes in the Genomic Era and their Implications for FTD.

Nguyen HP et al.

Trends in Genetics : Tig, 2018

Mutation analysis of the TIA1 gene in Chinese patients with amyotrophic lateral sclerosis and frontotemporal dementia.

Yuan Z et al.

Neurobiology of Aging, 2018

Reconsidering the causality of TIA1 mutations in ALS.

van der Spek RA et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018

Stress Granules and ALS: A Case of Causation or Correlation?

Fernandes N et al.

Advances in Neurobiology, 2018

Clinical and neuropathological features of ALS/FTD with TIA1 mutations.

Hirsch-Reinshagen V et al.

Acta Neuropathologica Communications, 2017

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

Mackenzie IR et al.

Neuron, 2017

Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.

Sharma R et al.

Mutation Research. Reviews in Mutation Research, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."