Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.E516V
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FUS

NM_004960.4:p.E516V

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

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

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

FUS mutations in Asian amyotrophic lateral sclerosis patients: a case report and literature review of genotype-phenotype correlations.

Lu T et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022

35232295 (PubMed )
Supplement: supplement_1.docx

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

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

Chen C et al.

Molecules (basel, Switzerland), 2019

De novo FUS mutations in 2 Korean patients with sporadic amyotrophic lateral sclerosis.

Kim YE et al.

Neurobiology of Aging, 2015

The role of FUS gene variants in neurodegenerative diseases.

Deng H et al.

Nature Reviews. Neurology, 2014

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

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

Lattante S et al.

Human Mutation, 2013

Novel FUS mutation in patients with sporadic amyotrophic lateral sclerosis and corticobasal degeneration.

Nagayama S et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2012

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

Dormann D et al.

The Embo Journal, 2012

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation.

Mackenzie IR et al.

Acta Neuropathologica, 2011

A novel double mutation in FUS gene causing sporadic ALS.

Robertson J et al.

Neurobiology of Aging, 2011

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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."