Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R495*
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FUS

NM_004960.4:p.R495*

Associated Papers

Breaking β-sheets in FUS prion-like domain preserves phase separation and function but prevents aggregation and toxicity.

Wake N et al.

Biorxiv : the Preprint Server for Biology, 2026

Targeting lipid droplets in FUS-linked amyotrophic lateral sclerosis mitigates neuronal and astrocytic lipotoxicity.

Marcadet L et al.

Brain : a Journal of Neurology, 2026

Small molecule JRMS modulating importin-β1 chaperone activity as a therapeutic strategy reducing TDP-43 pathology.

Shenouda M et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2026

Targeted stress granule regulation by engineering a non-catalytic O-GlcNAc transferase.

Wang N et al.

Nature Communications, 2026

Somatic gene mutations in the motor cortex of patients with sporadic amyotrophic lateral sclerosis.

González-Velasco Ó et al.

Brain : a Journal of Neurology, 2025

In-Depth Study of Low-Complexity Domains: From Structural Diversity to Disease Mechanisms.

Xu H et al.

Cells, 2025

Histone Post-Translational Modifications and DNA Double-Strand Break Repair in Neurodegenerative Diseases: An Epigenetic Perspective.

Yeasmin A et al.

Biology, 2025

Is amyotrophic lateral sclerosis less severe in mice than in humans?

Dupuis L et al.

Current Opinion in Neurology, 2025

Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.

Yuan L et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Pathology of three ALS patients with FUS variants, including one likely benign Q23L variant lacking FUS inclusions.

Stenvall E et al.

Human Molecular Genetics, 2025

ATP as a Key Modulator of Fused-in-sarcoma Phase Separation and Aggregation: Insights into Amyotrophic Lateral Sclerosis Pathogenesis.

Kitamura K et al.

Journal of Molecular Biology, 2025

Intra-condensate demixing of TDP-43 inside stress granules generates pathological aggregates.

Yan X et al.

Cell, 2025

Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALS.

Schweingruber C et al.

Nature Communications, 2025

Exploring Protein Misfolding in Amyotrophic Lateral Sclerosis: Structural and Functional Insights.

Ivantsik O et al.

Biomedicines, 2025

TEAD1 condensates are transcriptionally inactive storage sites on the pericentromeric heterochromatin.

Liang J et al.

Biorxiv : the Preprint Server for Biology, 2025

40568144 (PubMed )
Supplement: NIHPP2025.05.02.651992V1-supplement-1.pdf

Modelling Population Genetic Screening in Rare Neurodegenerative Diseases.

Spargo TP et al.

Biomedicines, 2025

40426848 (PubMed )
Supplement: biomedicines-13-01018-s001.zip › biomedicines-3524804-supplementary.pdf

Graphene Quantum Dots Attenuate TDP-43 Proteinopathy in Amyotrophic Lateral Sclerosis.

Park NY et al.

Acs Nano, 2025

Amyotrophic lateral sclerosis caused by FUS mutations: advances with broad implications.

Moens TG et al.

The Lancet. Neurology, 2025

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_1.xlsx › Hoja_1

Case Report: A case of ALS type 6 associated with a FUS gene variant and right limb muscle weakness and atrophy as the initial symptom.

Zhan X et al.

Frontiers in Genetics, 2025

FUS-related amyotrophic lateral sclerosis-frontotemporal dementia and links to the DNA damage response: a systematic review.

Almalki S et al.

Frontiers in Molecular Neuroscience, 2025

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

Younas N et al.

Frontiers in Neuroscience, 2025

Engineered NLS-chimera downregulates expression of aggregation-prone endogenous FUS.

Hayashi M et al.

Nature Communications, 2024

Targeted protein relocalization via protein transport coupling.

Ng CSC et al.

Nature, 2024

Glycolic acid and D-lactate-putative products of DJ-1-restore neurodegeneration in FUS - and SOD1-ALS.

Pal A et al.

Life Science Alliance, 2024

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

Mutation of the ALS-/FTD-Associated RNA-Binding Protein FUS Affects Axonal Development.

van Tartwijk FW et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2024

High-content analysis of proteostasis capacity in cellular models of amyotrophic lateral sclerosis (ALS).

Lambert-Smith IA et al.

Scientific Reports, 2024

Frontotemporal dementia-like disease progression elicited by seeded aggregation and spread of FUS.

Vazquez-Sanchez S et al.

Molecular Neurodegeneration, 2024

Frontotemporal dementia-like disease progression elicited by seeded aggregation and spread of FUS.

Vazquez-Sanchez S et al.

Biorxiv : the Preprint Server for Biology, 2024

An aberrant fused in sarcoma liquid droplet of amyotrophic lateral sclerosis pathological variant, R495X, accelerates liquid-solid phase transition.

Shiramasa Y et al.

Scientific Reports, 2024

The implications of physiological biomolecular condensates in amyotrophic lateral sclerosis.

Fakim H et al.

Seminars in Cell & Developmental Biology, 2024

FUS unveiled in mitochondrial DNA repair and targeted ligase-1 expression rescues repair-defects in FUS-linked motor neuron disease.

Kodavati M et al.

Nature Communications, 2024

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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."