Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R524S
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FUS

NM_004960.4:p.R524S

Associated Papers

DeepMVP: deep learning models trained on high-quality data accurately predict PTM sites and variant-induced alterations.

Wen B et al.

Nature Methods, 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

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

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.

Feng M et al.

Nature Communications, 2024

39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations

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

The implications of physiological biomolecular condensates in amyotrophic lateral sclerosis.

Fakim H et al.

Seminars in Cell & Developmental Biology, 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

Animal Models of FUS-Proteinopathy: A Systematic Review.

Rezvykh A et al.

Biochemistry. Biokhimiia, 2024

Invertebrate genetic models of amyotrophic lateral sclerosis.

Zhou L et al.

Frontiers in Molecular Neuroscience, 2024

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Phase separation and pathologic transitions of RNP condensates in neurons: implications for amyotrophic lateral sclerosis, frontotemporal dementia and other neurodegenerative disorders.

Naskar A et al.

Frontiers in Molecular Neuroscience, 2023

Simple models to understand complex disease: 10 years of progress from Caenorhabditis elegans models of amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

Eck RJ et al.

Frontiers in Neuroscience, 2023

Proteostasis impairment and ALS.

Lambert-Smith IA et al.

Progress in Biophysics and Molecular Biology, 2022

FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance.

Goldstein O et al.

Neurology. Genetics, 2022

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Disrupted autophagy and neuronal dysfunction in C. elegans knockin models of FUS amyotrophic lateral sclerosis.

Baskoylu SN et al.

Cell Reports, 2022

The Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.

Scarian E et al.

Frontiers in Neurology, 2022

Mechanism of karyopherin-β2 binding and nuclear import of ALS variants FUS(P525L) and FUS(R495X).

Gonzalez A et al.

Scientific Reports, 2021

Amyotrophic Lateral Sclerosis Genes in Drosophila melanogaster.

Layalle S et al.

International Journal of Molecular Sciences, 2021

Destination Amyotrophic Lateral Sclerosis.

Keon M et al.

Frontiers in Neurology, 2021

33854469 (PubMed )
Supplement: Table_1.XLSX › Genes

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

A de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis.

Chen L et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020

Cytoplasmic functions of TDP-43 and FUS and their role in ALS.

Birsa N et al.

Seminars in Cell & Developmental Biology, 2020

Muscleblind acts as a modifier of FUS toxicity by modulating stress granule dynamics and SMN localization.

Casci I et al.

Nature Communications, 2019

Cellular consequences of arginine methylation.

Lorton BM et al.

Cellular and Molecular Life Sciences : Cmls, 2019

Fused in Sarcoma: Properties, Self-Assembly and Correlation with Neurodegenerative Diseases.

Chen C et al.

Molecules (basel, Switzerland), 2019

RNA Binding Proteins and the Pathogenesis of Frontotemporal Lobar Degeneration.

Hofmann JW et al.

Annual Review of Pathology, 2019

FUS causes synaptic hyperexcitability in Drosophila dendritic arborization neurons.

Machamer JB et al.

Brain Research, 2018

Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation.

Naumann M et al.

Nature Communications, 2018

29362359 (PubMed )
Supplement: 41467_2017_2299_MOESM2_ESM.pdf

Yeast Models of Prion-Like Proteins That Cause Amyotrophic Lateral Sclerosis Reveal Pathogenic Mechanisms.

Monahan ZT et al.

Frontiers in Molecular Neuroscience, 2018

Functional interaction between FUS and SMN underlies SMA-like splicing changes in wild-type hFUS mice.

Mirra A et al.

Scientific Reports, 2017

Neuron-to-Neuron Transfer of FUS in Drosophila Primary Neuronal Culture Is Enhanced by ALS-Associated Mutations.

Feuillette S et al.

Journal of Molecular Neuroscience : Mn, 2017

PINK1 and Parkin are genetic modifiers for FUS-induced neurodegeneration.

Chen Y et al.

Human Molecular Genetics, 2016

Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis.

Shang Y et al.

Brain Research, 2016

From animal models to human disease: a genetic approach for personalized medicine in ALS.

Picher-Martel V et al.

Acta Neuropathologica Communications, 2016

ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function.

Murakami T et al.

Neuron, 2015

Rab1-dependent ER-Golgi transport dysfunction is a common pathogenic mechanism in SOD1, TDP-43 and FUS-associated ALS.

Soo KY et al.

Acta Neuropathologica, 2015

Pur-alpha functionally interacts with FUS carrying ALS-associated mutations.

Di Salvio M et al.

Cell Death & Disease, 2015

Emerging mechanisms of molecular pathology in ALS.

Peters OM et al.

The Journal of Clinical Investigation, 2015

Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6.

Kamaraj B et al.

Journal of Biomolecular Structure & Dynamics, 2015

ALS-associated mutant FUS inhibits macroautophagy which is restored by overexpression of Rab1.

Soo KY et al.

Cell Death Discovery, 2015

Functions of FUS/TLS from DNA repair to stress response: implications for ALS.

Sama RR et al.

Asn Neuro, 2014

Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons.

Wang WY et al.

Nature Neuroscience, 2013

Stress granules in neurodegeneration--lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma.

Bentmann E et al.

The Febs Journal, 2013

The RNA-binding protein fused in sarcoma (FUS) functions downstream of poly(ADP-ribose) polymerase (PARP) in response to DNA damage.

Mastrocola AS et al.

The Journal of Biological Chemistry, 2013

Genetics of amyotrophic lateral sclerosis: an update.

Chen S et al.

Molecular Neurodegeneration, 2013

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