Varaico: Literature-Extracted Genetic Variants

Gene:TIA1
Variant:p.A127A
Back to variants list

TIA1

NM_022173.4:p.A127A

Associated Papers

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

Inaoka D et al.

Pnas Nexus, 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

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

Chandhok S et al.

Scientific Reports, 2023

Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.

Chu S et al.

Molecular Neurodegeneration, 2023

Targeting the NEDP1 enzyme to ameliorate ALS phenotypes through stress granule disassembly.

Kassouf T et al.

Science Advances, 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

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

ULK1 and ULK2 Regulate Stress Granule Disassembly Through Phosphorylation and Activation of VCP/p97.

Wang B et al.

Molecular Cell, 2019

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."