Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R524W
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FUS

NM_004960.4:p.R524W

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

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

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

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

Goldstein O et al.

Neurology. Genetics, 2022

Protein network analysis to prioritize key genes in amyotrophic lateral sclerosis.

Kumar R et al.

Ibro Neuroscience Reports, 2022

Genotype-phenotype correlations in a chinese population with familial amyotrophic lateral sclerosis.

Liu W et al.

Neurological Research, 2022

Destination Amyotrophic Lateral Sclerosis.

Keon M et al.

Frontiers in Neurology, 2021

33854469 (PubMed )
Supplement: Table_1.XLSX › Genes

Quantitative patterns of motor cortex proteinopathy across ALS genotypes.

Nolan M et al.

Acta Neuropathologica Communications, 2020

32616036 (PubMed )
Supplement: 40478_2020_961_MOESM2_ESM.xlsx › Sheet1

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

ALS/FTD-associated protein FUS induces mitochondrial dysfunction by preferentially sequestering respiratory chain complex mRNAs.

Tsai YL et al.

Genes & Development, 2020

CRISPR/Cas9-Mediated Gene Correction to Understand ALS.

Yun Y et al.

International Journal of Molecular Sciences, 2020

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

Chen C et al.

Molecules (basel, Switzerland), 2019

Astrocytes expressing ALS-linked mutant FUS induce motor neuron death through release of tumor necrosis factor-alpha.

Kia A et al.

Glia, 2018

Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.

Bury JJ et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2016

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

The role of FUS gene variants in neurodegenerative diseases.

Deng H et al.

Nature Reviews. Neurology, 2014

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

Lattante S et al.

Human Mutation, 2013

Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation.

Hara M et al.

Journal of Neurology, 2012

FUS-related proteinopathies: lessons from animal models.

Lanson NA et al.

Brain Research, 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

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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."