Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R518G
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FUS

NM_004960.4:p.R518G

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_MOESM3_ESM.xlsx › FUS_Clinical_Data

Mutated FUS in familial amyotrophic lateral sclerosis involves multiple hnRNPs in the formation of neuronal cytoplasmic inclusions.

Honda H et al.

Journal of Neuropathology and Experimental Neurology, 2023

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

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

The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature.

Picher-Martel V et al.

Journal of Child Neurology, 2020

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

Casci I et al.

Nature Communications, 2019

31811140 (PubMed )
Supplement: 41467_2019_13383_MOESM1_ESM.pdf

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

Chen C et al.

Molecules (basel, Switzerland), 2019

Pur-alpha regulates cytoplasmic stress granule dynamics and ameliorates FUS toxicity.

Daigle JG et al.

Acta Neuropathologica, 2016

The role of FUS gene variants in neurodegenerative diseases.

Deng H et al.

Nature Reviews. Neurology, 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

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules.

Vance C et al.

Human Molecular Genetics, 2013

TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.

Lattante S et al.

Human Mutation, 2013

Protein arginine methyltransferase 1 and 8 interact with FUS to modify its sub-cellular distribution and toxicity in vitro and in vivo.

Scaramuzzino C et al.

Plos One, 2013

Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS.

Dormann D et al.

The Embo Journal, 2012

FUS-related proteinopathies: lessons from animal models.

Lanson NA et al.

Brain Research, 2012

FUS-NLS/Transportin 1 complex structure provides insights into the nuclear targeting mechanism of FUS and the implications in ALS.

Niu C et al.

Plos One, 2012

FUS mutations in sporadic amyotrophic lateral sclerosis.

Lai SL et al.

Neurobiology of Aging, 2011

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.

Chiò A et al.

Neurobiology of Aging, 2011

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.

Lagier-Tourenne C et al.

Human Molecular Genetics, 2010

RNA-binding proteins in neurodegenerative disease: TDP-43 and beyond.

Hanson KA et al.

Wiley Interdisciplinary Reviews. Rna, 0

Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.

Sharma R et al.

Mutation Research. Reviews in Mutation Research, 0

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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."