Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.P525R
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FUS

NM_004960.4:p.P525R

Associated Papers

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_MOESM1_ESM.pdf

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_1.xlsx › Hoja_1

Multi-scale in silico analysis of the phase separation behavior of FUS mutants.

Fernando KS et al.

Journal of Materials Chemistry. B, 2024

Unraveling the molecular mechanisms of ALS: a network biology and structural modeling approach of investigating the impact of C9orf72 mutations.

Alzahrani AK et al.

Journal of Biomolecular Structure & Dynamics, 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

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

Homozygous ALS-linked FUS P525L mutations cell- autonomously perturb transcriptome profile and chemoreceptor signaling in human iPSC microglia.

Kerk SY et al.

Stem Cell Reports, 2022

35120624 (PubMed )
Supplement: mmc8.pdf

Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.

Mesaros M et al.

Genes, 2021

35052416 (PubMed )
Supplement: genes-13-00076-s001.zip › genes-1514337-supplementary.pdf

Insights into amyotrophic lateral sclerosis linked Pro525Arg mutation in the fused in sarcoma protein through in silico analysis and molecular dynamics simulation.

Chatterjee S et al.

Journal of Biomolecular Structure & Dynamics, 2021

Loss of the fragile X syndrome protein FMRP results in misregulation of nonsense-mediated mRNA decay.

Kurosaki T et al.

Nature Cell Biology, 2021

Contribution of Energy Dysfunction to Impaired Protein Translation in Neurodegenerative Diseases.

Liu YJ et al.

Frontiers in Cellular Neuroscience, 2021

A Deletion of the Nuclear Localization Signal Domain in the Fus Protein Induces Stable Post-stress Cytoplasmic Inclusions in SH-SY5Y Cells.

Notaro A et al.

Frontiers in Neuroscience, 2021

Lysine acetylation regulates the RNA binding, subcellular localization and inclusion formation of FUS.

Arenas A et al.

Human Molecular Genetics, 2020

FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.

Zhou B et al.

Brain and Behavior, 2020

Aggressive FUS-Mutant Motor Neuron Disease Without Profound Spinal Cord Pathology.

Wongworawat YC et al.

Journal of Neuropathology and Experimental Neurology, 2020

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

Chen C et al.

Molecules (basel, Switzerland), 2019

Increased FUS levels in astrocytes leads to astrocyte and microglia activation and neuronal death.

Ajmone-Cat MA et al.

Scientific Reports, 2019

ALS mutations of FUS suppress protein translation and disrupt the regulation of nonsense-mediated decay.

Kamelgarn M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Clinical and experimental studies of a novel P525R FUS mutation in amyotrophic lateral sclerosis.

Kuang L et al.

Neurology. Genetics, 2017

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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."