Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R216C
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FUS

NM_004960.4:p.R216C

Associated Papers

Defining RNA oligonucleotides that reverse deleterious phase transitions of RNA-binding proteins with prion-like domains.

Guo L et al.

Molecular Cell, 2026

Pathology of three ALS patients with FUS variants, including one likely benign Q23L variant lacking FUS inclusions.

Stenvall E et al.

Human Molecular Genetics, 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

Modelling Population Genetic Screening in Rare Neurodegenerative Diseases.

Spargo TP et al.

Biomedicines, 2025

40426848 (PubMed )
Supplement: biomedicines-13-01018-s001.zip › biomedicines-3524804-supplementary.pdf

The implications of physiological biomolecular condensates in amyotrophic lateral sclerosis.

Fakim H et al.

Seminars in Cell & Developmental Biology, 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

ALS-plus related clinical and genetic study from China.

Chang C et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Defining RNA oligonucleotides that reverse deleterious phase transitions of RNA-binding proteins with prion-like domains.

Guo L et al.

Biorxiv : the Preprint Server for Biology, 2023

Nucleation and dissolution mechanism underlying amyotrophic lateral sclerosis/frontotemporal lobar dementia-linked fused in sarcoma condensates.

Djaja NA et al.

Iscience, 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

Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.

Nel M et al.

Neurology. Genetics, 2022

Destination Amyotrophic Lateral Sclerosis.

Keon M et al.

Frontiers in Neurology, 2021

33854469 (PubMed )
Supplement: Table_1.XLSX › Genes

ALS/FTLD-Linked Mutations in FUS Glycine Residues Cause Accelerated Gelation and Reduced Interactions with Wild-Type FUS.

Rhine K et al.

Molecular Cell, 2020

Genetic testing of FUS, HTRA2, and TENM4 genes in Chinese patients with essential tremor.

Yan YP et al.

Cns Neuroscience & Therapeutics, 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

Genetic Risk Factors for Essential Tremor: A Review.

Siokas V et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020

32775018 (PubMed )
Supplement: tohm-10-1-67-s2.pdf

CRISPR/Cas9-Mediated Gene Correction to Understand ALS.

Yun Y et al.

International Journal of Molecular Sciences, 2020

Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy.

Wadman RI et al.

Neurology. Genetics, 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

[Essential tremor: genetic update].

Deng H et al.

Expert Reviews in Molecular Medicine, 2019

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

Chen C et al.

Molecules (basel, Switzerland), 2019

A complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy.

Chitiprolu M et al.

Nature Communications, 2018

Serine phosphorylation and arginine methylation at the crossroads to neurodegeneration.

Basso M et al.

Experimental Neurology, 2015

Emerging mechanisms of molecular pathology in ALS.

Peters OM et al.

The Journal of Clinical Investigation, 2015

The impact of rare variants in FUS in essential tremor.

Hopfner F et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

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

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

Identification of FUS p.R377W in essential tremor.

Rajput A et al.

European Journal of Neurology, 2014

Genetic analysis of the fused in sarcoma gene in Chinese Han patients with Parkinson's disease.

Gao K et al.

Parkinsonism & Related Disorders, 2014

Investigating FUS variation in Parkinson's disease.

Labbé C et al.

Parkinsonism & Related Disorders, 2014

Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans.

Ortega-Cubero S et al.

Neurobiology of Aging, 2013

Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons.

Wang WY et al.

Nature Neuroscience, 2013

Investigating the role of FUS exonic variants in essential tremor.

Labbé C et al.

Parkinsonism & Related Disorders, 2013

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

Lattante S et al.

Human Mutation, 2013

FUS gene mutations cause essential tremor: a surprise but also confirms genetic heterogeneity of essential tremor.

Macerollo A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

Exome sequencing identifies FUS mutations as a cause of essential tremor.

Merner ND et al.

American Journal of Human Genetics, 2012

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

TDP-43 and FUS/TLS: cellular functions and implications for neurodegeneration.

Fiesel FC et al.

The Febs Journal, 2011

FTD and ALS: a tale of two diseases.

Ferrari R et al.

Current Alzheimer Research, 2011

Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis.

Belzil VV et al.

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