Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.K510E
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FUS

NM_004960.4:p.K510E

Associated Papers

Targeting lipid droplets in FUS-linked amyotrophic lateral sclerosis mitigates neuronal and astrocytic lipotoxicity.

Marcadet L et al.

Brain : a Journal of Neurology, 2026

Protein Structure-based FUS Mutational Subtypes Are Associated With Protein Mislocalization in Amyotrophic Lateral Sclerosis Patients.

Yang W et al.

Molecular Neurobiology, 2025

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

Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons.

Shum C et al.

Stem Cell Reports, 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

Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.

Suzuki N et al.

Journal of Human Genetics, 2023

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

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

Goldstein O et al.

Neurology. Genetics, 2022

Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis.

Zou ZY et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

The FUS gene is dual-coding with both proteins contributing to FUS-mediated toxicity.

Brunet MA et al.

Embo Reports, 2021

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

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

Arenas A et al.

Human Molecular Genetics, 2020

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

Genetic Spectrum and Variability in Chinese Patients with Amyotrophic Lateral Sclerosis.

Liu ZJ et al.

Aging and Disease, 2019

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

Chen C et al.

Molecules (basel, Switzerland), 2019

Novel and Recurrent Mutations in a Cohort of Chinese Patients With Young-Onset Amyotrophic Lateral Sclerosis.

Deng J et al.

Frontiers in Neuroscience, 2019

Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan.

Akiyama T et al.

Muscle & Nerve, 2016

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation.

King A et al.

Acta Neuropathologica Communications, 2015

A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state.

Mochizuki Y et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2014

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

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

Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations.

Kino Y et al.

Nucleic Acids Research, 2011

FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population.

Syriani E et al.

Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2011

[Gene mutations in familial amyotrophic lateral sclerosis].

Oda M et al.

Brain and Nerve = Shinkei Kenkyu No Shinpo, 2011

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

Lagier-Tourenne C et al.

Human Molecular Genetics, 2010

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.

Suzuki N et al.

Journal of Human Genetics, 2010

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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."