Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R244C
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FUS

NM_004960.4:p.R244C

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

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

Neuromuscular dysfunction in patient-derived FUSR244RR-ALS iPSC model via axonal downregulation of neuromuscular junction proteins.

von Kügelgen N et al.

Nar Molecular Medicine, 2025

FUS-related amyotrophic lateral sclerosis-frontotemporal dementia and links to the DNA damage response: a systematic review.

Almalki S et al.

Frontiers in Molecular Neuroscience, 2025

Multi-scale in silico analysis of the phase separation behavior of FUS mutants.

Fernando KS et al.

Journal of Materials Chemistry. B, 2024

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.

Feng M et al.

Nature Communications, 2024

39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations

The implications of physiological biomolecular condensates in amyotrophic lateral sclerosis.

Fakim H et al.

Seminars in Cell & Developmental Biology, 2024

Investigation of a Fused in Sarcoma Splicing Mutation in a Chinese Amyotrophic Lateral Sclerosis Patient.

Yang W et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 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

Amyotrophic Lateral Sclerosis, FUS and Protein Synthesis Defects.

Assoni AF et al.

Stem Cell Reviews and Reports, 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

Proteostasis impairment and ALS.

Lambert-Smith IA et al.

Progress in Biophysics and Molecular Biology, 2022

Hsp70 exhibits a liquid-liquid phase separation ability and chaperones condensed FUS against amyloid aggregation.

Li Y et al.

Iscience, 2022

Phase-Separated Subcellular Compartmentation and Related Human Diseases.

Zhang L et al.

International Journal of Molecular Sciences, 2022

Poly(ADP-ribose) drives condensation of FUS via a transient interaction.

Rhine K et al.

Molecular Cell, 2022

Stress granule subtypes: an emerging link to neurodegeneration.

Advani VM et al.

Cellular and Molecular Life Sciences : Cmls, 2020

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

A Systematic and Comprehensive Review on Disease-Causing Genes in Amyotrophic Lateral Sclerosis.

Srinivasan E et al.

Journal of Molecular Neuroscience : Mn, 2020

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

Fused in Sarcoma (FUS) in DNA Repair: Tango with Poly(ADP-ribose) Polymerase 1 and Compartmentalisation of Damaged DNA.

Sukhanova MV et al.

International Journal of Molecular Sciences, 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

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

Chen C et al.

Molecules (basel, Switzerland), 2019

Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis.

Shang Y et al.

Brain Research, 2016

A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation.

Patel A et al.

Cell, 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

Functions of FUS/TLS from DNA repair to stress response: implications for ALS.

Sama RR et al.

Asn Neuro, 2014

The role of FUS gene variants in neurodegenerative diseases.

Deng H et al.

Nature Reviews. Neurology, 2014

FUS-regulated RNA metabolism and DNA damage repair: Implications for amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.

Zhou Y et al.

Rare Diseases (austin, Tex.), 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

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

Lattante S et al.

Human Mutation, 2013

RNA-binding proteins in Mendelian disease.

Castello A et al.

Trends in Genetics : Tig, 2013

FUS-related proteinopathies: lessons from animal models.

Lanson NA et al.

Brain Research, 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

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

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort.

Ticozzi N et al.

Neurology, 2009

Rethinking ALS: the FUS about TDP-43.

Lagier-Tourenne C et al.

Cell, 2009

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

Hanson KA et al.

Wiley Interdisciplinary Reviews. Rna, 0

TDP-43/FUS in motor neuron disease: Complexity and challenges.

Guerrero EN et al.

Progress in Neurobiology, 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."