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
Welander distal myopathy-associated TIA1 mutation exacerbates P-body and stress granule dynamics concomitant with nucleolar stress under oxidative stress.
Ramos Velasco B et al.
Genes & Diseases, 2025
Welander Distal Myopathy-Associated TIA1 E384K Mutation Disrupts Stress Granule Dynamics Under Distinct Stress Conditions.
Ramos-Velasco B et al.
Biology, 2025
Potential role of stress granules and myogranules in amyotrophic lateral sclerosis.
Ishaq SM et al.
Frontiers in Molecular Neuroscience, 2025
Decoding the Molecular Grammar of TIA1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy Under Oxidative Stress.
Alcalde-Rey I et al.
Cells, 2024
Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.
Feng M et al.
Nature Communications, 2024
Diverse Phenotypic Presentation of the Welander Distal Myopathy Founder Mutation, With Myopathy and Amyotrophic Lateral Sclerosis in the Same Family.
Purcell N et al.
Journal of Clinical Neuromuscular Disease, 2024
Defining the landscape of TIA1 and SQSTM1 digenic myopathy.
Panos-Basterra P et al.
Neuromuscular Disorders : Nmd, 2024
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Bermejo-Guerrero L et al.
Neuromuscular Disorders : Nmd, 2023
Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.
Chompoopong P et al.
Annals of Clinical and Translational Neurology, 2023
Targeting the NEDP1 enzyme to ameliorate ALS phenotypes through stress granule disassembly.
Kassouf T et al.
Science Advances, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 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
Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression.
Kanda S et al.
Molecular Pharmacology, 2022
Dynamics of T-Cell Intracellular Antigen 1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy under Oxidative Stress.
Fernández-Gómez A et al.
Cells, 2022
Pathological phase transitions in ALS-FTD impair dynamic RNA-protein granules.
Nedelsky NB et al.
Rna (new York, N.y.), 2022
Restriction of an intron size en route to endothermy.
Královičová J et al.
Nucleic Acids Research, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Stress granule subtypes: an emerging link to neurodegeneration.
Advani VM et al.
Cellular and Molecular Life Sciences : Cmls, 2020
Panorama of the distal myopathies.
Savarese M et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
RNA-Binding Proteins Implicated in Mitochondrial Damage and Mitophagy.
Ravanidis S et al.
Frontiers in Cell and Developmental Biology, 2020
The unfolding spectrum of inherited distal myopathies.
Milone M et al.
Muscle & Nerve, 2019
A Heterologous Cell Model for Studying the Role of T-Cell Intracellular Antigen 1 in Welander Distal Myopathy.
Carrascoso I et al.
Molecular and Cellular Biology, 2019
A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy.
Madigan NN et al.
Neurology. Genetics, 2018
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
Mutation analysis of the TIA1 gene in Chinese patients with amyotrophic lateral sclerosis and frontotemporal dementia.
Yuan Z et al.
Neurobiology of Aging, 2018
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.
Lee Y et al.
The Journal of Clinical Investigation, 2018
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.
Niu Z et al.
Frontiers in Neurology, 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
Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.
Gass J et al.
Journal of Clinical Neuromuscular Disease, 2017
Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.
Brand P et al.
Neuromuscular Disorders : Nmd, 2016
Targeted next-generation sequencing assay for detection of mutations in primary myopathies.
Evilä A et al.
Neuromuscular Disorders : Nmd, 2016
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.
Klar J et al.
Human Mutation, 2013
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
Hackman P et al.
Annals of Neurology, 2013