Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.G225V
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FUS

NM_004960.4:p.G225V

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

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

Identifying amyloid-related diseases by mapping mutations in low-complexity protein domains to pathologies.

Murray KA et al.

Nature Structural & Molecular Biology, 2022

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

Loss of Dynamic RNA Interaction and Aberrant Phase Separation Induced by Two Distinct Types of ALS/FTD-Linked FUS Mutations.

Niaki AG et al.

Molecular Cell, 2020

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ030

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

Chen C et al.

Molecules (basel, Switzerland), 2019

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.

Devoy A et al.

Brain : a Journal of Neurology, 2017

29053787 (PubMed )
Supplement: brain-2017-00604-file007_awx248.pdf

Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array.

Barber IS et al.

Neurobiology of Aging, 2017

Aggregation of FET Proteins as a Pathological Change in Amyotrophic Lateral Sclerosis.

Furukawa Y et al.

Advances in Experimental Medicine and Biology, 2017

Emerging mechanisms of molecular pathology in ALS.

Peters OM et al.

The Journal of Clinical Investigation, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

The role of FUS gene variants in neurodegenerative diseases.

Deng H et al.

Nature Reviews. Neurology, 2014

Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.

Bertolin C et al.

Neurobiology of Aging, 2014

Intranuclear aggregation of mutant FUS/TLS as a molecular pathomechanism of amyotrophic lateral sclerosis.

Nomura T et al.

The Journal of Biological Chemistry, 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

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

FUS-related proteinopathies: lessons from animal models.

Lanson NA et al.

Brain Research, 2012

Dysfunction of constitutive and inducible ubiquitin-proteasome system in amyotrophic lateral sclerosis: implication for protein aggregation and immune response.

Bendotti C et al.

Progress in Neurobiology, 2012

FTD and ALS: a tale of two diseases.

Ferrari R et al.

Current Alzheimer Research, 2011

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import.

Dormann D et al.

The Embo Journal, 2010

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

Lagier-Tourenne C et al.

Human Molecular Genetics, 2010

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.

Corrado L et al.

Journal of Medical Genetics, 2010

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

Hanson KA et al.

Wiley Interdisciplinary Reviews. Rna, 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."