Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R521C
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FUS

NM_004960.4:p.R521C

Associated Papers

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

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

Piol D et al.

Nature Neuroscience, 2026

Early Dropped Head Syndrome Is More Prevalent in C9orf72 and FUS/TLS ALS.

Gamez J et al.

Muscle & Nerve, 2025

Novel and rare variants in amyotrophic lateral sclerosis genes identified in Malaysian patients.

Zulhairy-Liong NA et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025

Navigating the Autophagy Maze: ATG and Their Impact on Neurodegenerative Diseases.

Amirian R et al.

Molecular Neurobiology, 2025

Alternative splicing and the aging brain in AfrAbia: New frontiers in dementia research.

Aremu SA

Ibro Neuroscience Reports, 2025

CRISPR/Cas9 a genomic engineering technology for treatment in ALS mouse models.

Khan H et al.

Regenerative Therapy, 2025

Multiplex neurodegeneration proteotoxicity platform reveals DNAJB6 promotes non-toxic FUS condensate gelation and inhibits neurotoxicity.

Resnick SJ et al.

Nature Communications, 2025

41271702 (PubMed )
Supplement: 41467_2025_65178_MOESM3_ESM.xlsx › Sheet1

MARK2 regulates C9orf72 repeat-associated non-AUG translation.

Lu YN et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Decoding Glycosylation in Neurodegenerative Diseases: Mechanistic Insights and Therapeutic Opportunities.

Yu H et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

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

Dupuis L 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

MYC-driven gliosis impairs neuron-glia communication in amyotrophic lateral sclerosis.

Fioretti PV et al.

Brain : a Journal of Neurology, 2025

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

Szewczyk B et al.

Cell Reports, 2025

ALS-associated RNA-binding proteins promote UNC13A transcription through REST downregulation.

Watanabe Y et al.

The Embo Journal, 2025

Multifunctional regulation and treatment of ubiquitin specific protease 10.

Chen X et al.

Biochemical Pharmacology, 2025

Blueprint of Collapse: Precision Biomarkers, Molecular Cascades, and the Engineered Decline of Fast-Progressing ALS.

Șerban M et al.

International Journal of Molecular Sciences, 2025

Synaptic defects in adult drosophila motor neurons in a model of amyotrophic lateral sclerosis.

Malik T et al.

Human Molecular Genetics, 2025

Regulation of physiological and pathological condensates by molecular chaperones.

Akaree N et al.

The Febs Journal, 2025

β-propeller protein-associated neurodegeneration protein WDR45 regulates stress granule disassembly via phase separation with Caprin-1.

Li Y et al.

Nature Communications, 2025

DNA nanoflower Oligo-PROTAC for targeted degradation of FUS to treat neurodegenerative diseases.

Ge R et al.

Nature Communications, 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

40389397 (PubMed )
Supplement: 41467_2025_59679_MOESM3_ESM.xlsx › FUS_Clinical_Data

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

Ivantsik O et al.

Biomedicines, 2025

Aggregates associated with amyotrophic lateral sclerosis sequester the actin-binding protein profilin 2.

Kubinski S et al.

Human Molecular Genetics, 2025

Targets and Gene Therapy of ALS (Part 1).

Shiryaeva O et al.

International Journal of Molecular Sciences, 2025

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

Advancements in genetic research and RNA therapy strategies for amyotrophic lateral sclerosis (ALS): current progress and future prospects.

Ruffo P et al.

Journal of Neurology, 2025

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

Moens TG et al.

The Lancet. Neurology, 2025

DNA Damage and Chromatin Rearrangement Work Together to Promote Neurodegeneration.

Sharma H et al.

Molecular Neurobiology, 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_4.xlsx › ClinVar_filtered_variants

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

Axonal transcriptome reveals upregulation of PLK1 as a protective mechanism in response to increased DNA damage in FUS P525L spinal motor neurons.

Zimyanin V et al.

Biorxiv : the Preprint Server for Biology, 2024

Multiple lines of evidence for disruption of nuclear lamina and nucleoporins in FUS amyotrophic lateral sclerosis.

Okada K et al.

Brain : a Journal of Neurology, 2024

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

Luan T et al.

Neuroscience Bulletin, 2024

Post-Translational Variants of Major Proteins in Amyotrophic Lateral Sclerosis Provide New Insights into the Pathophysiology of the Disease.

Bedja-Iacona L et al.

International Journal of Molecular Sciences, 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

Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study.

Shen D et al.

Journal of Neurology, 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

Synaptopathy: presynaptic convergence in frontotemporal dementia and amyotrophic lateral sclerosis.

Clayton EL et al.

Brain : a Journal of Neurology, 2024

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

Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.

Chatterjee M et al.

Nature Medicine, 2024

38890531 (PubMed )
Supplement: 41591_2024_2937_MOESM3_ESM.pdf
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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."