Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.H517D
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FUS

NM_004960.4:p.H517D

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

The nuclear envelope and nuclear pore complexes in neurodegenerative diseases.

Wu T et al.

Frontiers in Cell and Developmental Biology, 2025

Case Report: A case of ALS type 6 associated with a FUS gene variant and right limb muscle weakness and atrophy as the initial symptom.

Zhan X et al.

Frontiers in Genetics, 2025

Investigation of early axonal phenotypes in an iPSC-derived ALS cellular model using a microfluidic device.

Otomo A et al.

Frontiers in Cellular Neuroscience, 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

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

Mutation of the ALS-/FTD-Associated RNA-Binding Protein FUS Affects Axonal Development.

van Tartwijk FW et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2024

Modeling sporadic juvenile ALS in iPSC-derived motor neurons explores the pathogenesis of FUSR503fs mutation.

Chen L et al.

Frontiers in Cellular Neuroscience, 2024

Restoring Axonal Organelle Motility and Regeneration in Cultured FUS-ALS Motoneurons through Magnetic Field Stimulation Suggests an Alternative Therapeutic Approach.

Kandhavivorn W et al.

Cells, 2023

Rapid and Robust Multi-Phenotypic Assay System for ALS Using Human iPS Cells with Mutations in Causative Genes.

Kondo T et al.

International Journal of Molecular Sciences, 2023

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

Suzuki N et al.

Journal of Human Genetics, 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 mutations in Asian amyotrophic lateral sclerosis patients: a case report and literature review of genotype-phenotype correlations.

Lu T et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022

35232295 (PubMed )
Supplement: supplement_1.docx

DNA damage stress-induced translocation of mutant FUS proteins into cytosolic granules and screening for translocation inhibitors.

Nogami M et al.

Frontiers in Molecular Neuroscience, 2022

RNA Editing: A New Therapeutic Target in Amyotrophic Lateral Sclerosis and Other Neurological Diseases.

Hosaka T et al.

International Journal of Molecular Sciences, 2021

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

Garone MG et al.

Communications Biology, 2021

Identification of hub molecules of FUS-ALS by Bayesian gene regulatory network analysis of iPSC model: iBRN.

Nogami M et al.

Neurobiology of Disease, 2021

Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11.

Hedges EC et al.

Stem Cell Research, 2021

Genome Wide Analysis Points towards Subtype-Specific Diseases in Different Genetic Forms of Amyotrophic Lateral Sclerosis.

Dash BP 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

Modeling ALS using iPSCs: is it possible to reproduce the phenotypic variations observed in patients in vitro?

Vasques JF et al.

Regenerative Medicine, 2020

Modeling cell-autonomous motor neuron phenotypes in ALS using iPSCs.

Hawrot J et al.

Neurobiology of Disease, 2020

A Human iPSC Line Carrying a de novo Pathogenic FUS Mutation Identified in a Patient With Juvenile ALS Differentiated Into Motor Neurons With Pathological Characteristics.

Chen L et al.

Frontiers in Cellular Neuroscience, 2020

Aberrant axon branching via Fos-B dysregulation in FUS-ALS motor neurons.

Akiyama T et al.

Ebiomedicine, 2019

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

Chen C et al.

Molecules (basel, Switzerland), 2019

Altered Tau Isoform Ratio Caused by Loss of FUS and SFPQ Function Leads to FTLD-like Phenotypes.

Ishigaki S et al.

Cell Reports, 2017

Current Advances and Limitations in Modeling ALS/FTD in a Dish Using Induced Pluripotent Stem Cells.

Guo W et al.

Frontiers in Neuroscience, 2017

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

Akiyama T et al.

Muscle & Nerve, 2016

Establishment of In Vitro FUS-Associated Familial Amyotrophic Lateral Sclerosis Model Using Human Induced Pluripotent Stem Cells.

Ichiyanagi N et al.

Stem Cell Reports, 2016

Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort.

Nakamura R et al.

Neurobiology of Aging, 2016

Emerging mechanisms of molecular pathology in ALS.

Peters OM et al.

The Journal of Clinical Investigation, 2015

Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis.

Soong BW et al.

Neurobiology of Aging, 2014

The role of FUS gene variants in neurodegenerative diseases.

Deng H et al.

Nature Reviews. Neurology, 2014

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

A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan.

Tsai CP et al.

Neurobiology of Aging, 2012

FUS-related proteinopathies: lessons from animal models.

Lanson NA et al.

Brain Research, 2012

FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS.

Tsai CP et al.

Neurobiology of Aging, 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."