Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R521H
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FUS

NM_004960.4:p.R521H

Associated Papers

Demographic, clinical and genetic characteristics of patients with amyotrophic lateral sclerosis from two specialised centres in Austria.

Keritam O et al.

Journal of Neurology, 2026

Co-occurrence of amyotrophic lateral sclerosis and multiple sclerosis: a rare but interesting association.

Jellinger KA

Journal of Neural Transmission (vienna, Austria : 1996), 2026

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

Piol D et al.

Nature Neuroscience, 2026

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

Mouhi S et al.

Trends in Cell Biology, 2025

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

Yeasmin A et al.

Biology, 2025

Skin TDP-43 pathology as a candidate biomarker for predicting amyotrophic lateral sclerosis decades prior to motor symptom onset.

Waldron FM et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Yang W et al.

Molecular Neurobiology, 2025

Altered Lipid Homeostasis in Mutant FUSR521H Astrocytes from HiPSCs.

Zhu Y et al.

Molecular Neurobiology, 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

Perspectives in Amyotrophic Lateral Sclerosis: Biomarkers, Omics, and Gene Therapy Informing Disease and Treatment.

Bono N et al.

International Journal of Molecular Sciences, 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

SARM1 is an essential component of neuronal Parthanatos.

Wu T et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Ivantsik O et al.

Biomedicines, 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

A human-induced pluripotent stem cell (iPSC) line (SMUSHi006-A) from an ALS patient carrying a mutation c.1126C > T in the FUS gene.

Huang C et al.

Stem Cell Research, 2025

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

Moens TG et al.

The Lancet. Neurology, 2025

Therapeutic targeting of the oxidative stress generated by pathological molecular pathways in the neurodegenerative diseases, ALS and Huntington's.

Bajpai A et al.

European Journal of Pharmacology, 2025

TDP-43 as a potential retinal biomarker for neurodegenerative diseases.

Glashutter M et al.

Frontiers in Neuroscience, 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

Selective Inhibition of Cytosolic PARylation via PARG99: A Targeted Approach for Mitigating FUS-associated Neurodegeneration.

Kodavati M et al.

Biorxiv : the Preprint Server for Biology, 2024

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

Luan T et al.

Neuroscience Bulletin, 2024

Regulation of DNA damage response by RNA/DNA-binding proteins: Implications for neurological disorders and aging.

Kodavati M et al.

Ageing Research Reviews, 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

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

Clayton EL et al.

Brain : a Journal of Neurology, 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

Impact of histone deacetylase inhibition and arimoclomol on heat shock protein expression and disease biomarkers in primary culture models of familial ALS.

Fernández Comaduran M et al.

Cell Stress & Chaperones, 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

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

Molecular hallmarks of ageing in amyotrophic lateral sclerosis.

Jagaraj CJ et al.

Cellular and Molecular Life Sciences : Cmls, 2024

The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients.

He D et al.

Journal of Neurology, 2024

A transient protein folding response targets aggregation in the early phase of TDP-43-mediated neurodegeneration.

San Gil R et al.

Nature Communications, 2024

Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons.

Shum C et al.

Stem Cell Reports, 2024

FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review.

Xiao X et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024

Generation of a human induced pluripotent stem cell line (SMUSHi002-A) from an ALS patient carrying a heterozygous mutation c.1562G > A in the FUS gene.

Tang M et al.

Stem Cell Research, 2024

Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs.

Zhu Y et al.

Acta Neuropathologica, 2024

IFNγ protects motor neurons from oxidative stress via enhanced global protein synthesis in FUS-associated amyotrophic lateral sclerosis.

Assoni AF et al.

Brain Pathology (zurich, Switzerland), 2024

Animal Models of FUS-Proteinopathy: A Systematic Review.

Rezvykh A et al.

Biochemistry. Biokhimiia, 2024

Diving deep: zebrafish models in motor neuron degeneration research.

Garg V et al.

Frontiers in Neuroscience, 2024

Astrocyte-Neuron Interactions Contributing to Amyotrophic Lateral Sclerosis Progression.

Jensen BK

Advances in Neurobiology, 2024

Cell and gene therapy for amyotrophic lateral sclerosis.

Paris A et al.

Handbook of Clinical Neurology, 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."