Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.P525L
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FUS

NM_004960.4:p.P525L

Associated Papers

PML targets and resolves structured protein inclusions to mitigate neurodegeneration.

Wang Y et al.

Nature Cell Biology, 2026

Autophagy induction mitigates FUS aggregate formation and early synaptic dysfunction at the NMJ in the FUS-ALS model.

Malik T et al.

Biorxiv : the Preprint Server for Biology, 2026

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

Gene-targeted versus broad-spectrum therapies in ALS: comparative lessons and strategic outlook.

Shen Y et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026

Stress granules as a central hub linking organelle stress, aging, and neurodegeneration.

Ham HJ et al.

Bmb Reports, 2026

Compartment-specific transcriptome of motor neurons reveals impaired extracellular matrix signaling and activated cell cycle kinases in FUS-ALS.

Zimyanin V et al.

Neurobiology of Disease, 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

Proteasome inhibition by VR23 enhances autophagic clearance of FUSP525L-mediated persistent stress granule in SH-SY5Y cells.

Kim SH et al.

Molecular Brain, 2026

Defining RNA oligonucleotides that reverse deleterious phase transitions of RNA-binding proteins with prion-like domains.

Guo L et al.

Molecular Cell, 2026

TDP-43 proteinopathies and neurodegeneration: insights from Caenorhabditis elegans models.

Pir GJ et al.

The Febs Journal, 2026

Axonal Eif5a hypusination controls local translation and mitigates defects in FUS-ALS.

Piol D et al.

Nature Neuroscience, 2026

NEDD8, stress granules, and amyotrophic lateral sclerosis: unveiling the therapeutic potential of the NEDP1 protease.

Mitsiadou D et al.

Essays in Biochemistry, 2025

Revisiting oligodendrocytes in amyotrophic lateral sclerosis using human multicellular stem cell models.

Mouhi S et al.

Trends in Cell Biology, 2025

DNA damage response defects induced by the formation of TDP-43 and mutant FUS cytoplasmic inclusions and their pharmacological rescue.

Modafferi S et al.

Cell Death and Differentiation, 2025

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

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

Xu H et al.

Cells, 2025

RNA G-Quadruplexes Function as a Tunable Switch of FUS Phase Separation.

Carey JL et al.

Biorxiv : the Preprint Server for Biology, 2025

Epitranscriptomic dysregulation in neurodegenerative diseases and its implications for disease pathology and mechanisms.

Shafik AM et al.

Neurochemistry International, 2025

C9orf72 ALS-causing mutations lead to mislocalization and aggregation of nucleoporin Nup107 into stress granules.

Bilican S et al.

Febs Letters, 2025

Dominant-negative isoform of TDP-43 is regulated by ALS-linked RNA-binding proteins.

Hasegawa-Ogawa M et al.

The Journal of Cell Biology, 2025

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

Dupuis L et al.

Current Opinion in Neurology, 2025

Antisense oligonucleotide therapy in amyotrophic lateral sclerosis.

Erdi-Krausz G et al.

Current Opinion in Neurology, 2025

Protein Structure-based FUS Mutational Subtypes Are Associated With Protein Mislocalization in Amyotrophic Lateral Sclerosis Patients.

Yang W et al.

Molecular Neurobiology, 2025

Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.

Yuan L et al.

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

Integrative Transcriptomic and Network-Based Analysis of Neuromuscular Diseases.

García-Criado F et al.

International Journal of Molecular Sciences, 2025

41096646 (PubMed )
Supplement: ijms-26-09376-s001.zip › ijms-3817812-supplementary.pdf

Activation of polo-like kinase 1 correlates with selective motor neuron vulnerability in familial ALS.

Szewczyk B et al.

Cell Reports, 2025

Using circular RNAs to target toxic RNA-binding proteins in amyotrophic lateral sclerosis.

Hollensen AK et al.

Molecular Therapy. Methods & Clinical Development, 2025

Transcriptomic Alteration in FUS-ALS Points Towards Apoptosis-Rather than Ferroptosis-Related Cell Death Pathway.

Dash BP et al.

Cells, 2025

1–50 of 711 papers
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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."