Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.Q31Q
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FUS

NM_004960.4:p.Q31Q

Associated Papers

Engineered GM1 Intersects Between Mitochondrial and Synaptic Pathways to Ameliorate ALS Pathology.

Pilotto F et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026

Dysbiosis and Neurodegeneration in ALS: Unraveling the Gut-Brain Axis.

Sharma VK

Neuromolecular Medicine, 2025

Multiomics Approach Reveal Novel Insights in FUS Driven Juvenile Amyotrophic Lateral Sclerosis: A Family Quartet Analysis.

Verma S et al.

Annals of Neurosciences, 2025

Schwann Cells in Neuromuscular Disorders: A Spotlight on Amyotrophic Lateral Sclerosis.

Moss KR et al.

Cells, 2025

Tofersen and other antisense oligonucleotides in ALS.

Ludolph A et al.

Therapeutic Advances in Neurological Disorders, 2025

C9orf72-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

41341655 (PubMed )
Supplement: Table_1.docx

Multiple lines of evidence for disruption of nuclear lamina and nucleoporins in FUS amyotrophic lateral sclerosis.

Okada K et al.

Brain : a Journal of Neurology, 2024

Neuroprotective effects of niclosamide on disease progression via inflammatory pathways modulation in SOD1-G93A and FUS-associated amyotrophic lateral sclerosis models.

Milani M et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2024

Increased Vulnerability to Ferroptosis in FUS-ALS.

Ismail M et al.

Biology, 2024

lncRNA Sequencing Reveals Neurodegeneration-Associated FUS Mutations Alter Transcriptional Landscape of iPS Cells That Persists in Motor Neurons.

Provasek VE et al.

Cells, 2023

lncRNA Sequencing Reveals Neurodegeneration-associated FUS Mutations Alter Transcriptional Landscape of iPS Cells That Persists In Motor Neurons.

Provasek VE et al.

Research Square, 2023

Early Alterations in Structural and Functional Properties in the Neuromuscular Junctions of Mutant FUS Mice.

Mukhamedyarov MA et al.

International Journal of Molecular Sciences, 2023

Unraveling the impact of disrupted nucleocytoplasmic transport systems in C9orf72-associated ALS.

McGoldrick P et al.

Frontiers in Cellular Neuroscience, 2023

Deciphering lipid dysregulation in ALS: from mechanisms to translational medicine.

Agrawal I et al.

Translational Neurodegeneration, 2022

cGAS and DDX41-STING mediated intrinsic immunity spreads intercellularly to promote neuroinflammation in SOD1 ALS model.

Tan HY et al.

Iscience, 2022

Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4.

Campisi L et al.

Nature, 2022

Unique molecular features and cellular responses differentiate two populations of motor cortical layer 5b neurons in a preclinical model of ALS.

Moya MV et al.

Cell Reports, 2022

ALS-related FUS mutations alter axon growth in motoneurons and affect HuD/ELAVL4 and FMRP activity.

Garone MG et al.

Communications Biology, 2021

Altered expression of clock and clock-controlled genes in a hSOD1-linked amyotrophic lateral sclerosis mouse model.

Killoy KM et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021

Novel SOD1 monoclonal antibodies against the electrostatic loop preferentially detect misfolded SOD1 aggregates.

Xia Y et al.

Neuroscience Letters, 2021

Amyotrophic Lateral Sclerosis Genes in Drosophila melanogaster.

Layalle S et al.

International Journal of Molecular Sciences, 2021

FUS contributes to mTOR-dependent inhibition of translation.

Sévigny M et al.

The Journal of Biological Chemistry, 2020

Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis.

Jutzi D et al.

Nature Communications, 2020

Traffic jam at the nuclear pore: All roads lead to nucleocytoplasmic transport defects in ALS/FTD.

Fallini C et al.

Neurobiology of Disease, 2020

Neuro-Cells therapy improves motor outcomes and suppresses inflammation during experimental syndrome of amyotrophic lateral sclerosis in mice.

de Munter JPJM et al.

Cns Neuroscience & Therapeutics, 2020

Omics Approach to Axonal Dysfunction of Motor Neurons in Amyotrophic Lateral Sclerosis (ALS).

Suzuki N et al.

Frontiers in Neuroscience, 2020

Increased FUS levels in astrocytes leads to astrocyte and microglia activation and neuronal death.

Ajmone-Cat MA et al.

Scientific Reports, 2019

Molecular Mechanisms Linking ALS/FTD and Psychiatric Disorders, the Potential Effects of Lithium.

Limanaqi F et al.

Frontiers in Cellular Neuroscience, 2019

Aproximación genética en la esclerosis lateral amiotrófica.

Cervantes-Aragón I et al.

Gaceta Medica De Mexico, 2019

Genetic approach in amyotrophic lateral sclerosis.

Cervantes-Aragón I et al.

Gaceta Medica De Mexico, 2019

Tryptophan 32-mediated SOD1 aggregation is attenuated by pyrimidine-like compounds in living cells.

Pokrishevsky E et al.

Scientific Reports, 2018

30349065 (PubMed )
Supplement: 41598_2018_32835_MOESM4_ESM.docx

FUS interacts with ATP synthase beta subunit and induces mitochondrial unfolded protein response in cellular and animal models.

Deng J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Skeletal Muscle MicroRNAs as Key Players in the Pathogenesis of Amyotrophic Lateral Sclerosis.

Di Pietro L et al.

International Journal of Molecular Sciences, 2018

Preserving neuromuscular synapses in ALS by stimulating MuSK with a therapeutic agonist antibody.

Cantor S et al.

Elife, 2018

Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder.

Gao FB et al.

The Embo Journal, 2017

Motor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis.

Scekic-Zahirovic J et al.

Acta Neuropathologica, 2017

ALS-linked FUS exerts a gain of toxic function involving aberrant p38 MAPK activation.

Sama RR et al.

Scientific Reports, 2017

Genotype-phenotype correlations of amyotrophic lateral sclerosis.

Li HF et al.

Translational Neurodegeneration, 2016

Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.

Marangi G et al.

Brain Research, 2015

Up-regulation of neural and cell cycle-related microRNAs in brain of amyotrophic lateral sclerosis mice at late disease stage.

Marcuzzo S et al.

Molecular Brain, 2015

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.

Yamashita S et al.

Translational Neurodegeneration, 2015

Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis.

Graffmo KS et al.

Human Molecular Genetics, 2013

Nuclear localization of human SOD1 and mutant SOD1-specific disruption of survival motor neuron protein complex in transgenic amyotrophic lateral sclerosis mice.

Gertz B et al.

Journal of Neuropathology and Experimental Neurology, 2012

Nrf2/ARE Signaling Pathway: Key Mediator in Oxidative Stress and Potential Therapeutic Target in ALS.

Petri S et al.

Neurology Research International, 2012

The effect of PRMT1-mediated arginine methylation on the subcellular localization, stress granules, and detergent-insoluble aggregates of FUS/TLS.

Yamaguchi A et al.

Plos One, 2012

FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis.

Kabashi E et al.

Plos Genetics, 2011

The Role of immune and inflammatory mechanisms in ALS.

McCombe PA et al.

Current Molecular Medicine, 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."