Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.M254V
Back to variants list

FUS

NM_004960.4:p.M254V

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

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

Genotype-phenotype correlation in the spectrum of frontotemporal dementia-parkinsonian syndromes and advanced diagnostic approaches.

Zecca C et al.

Critical Reviews in Clinical Laboratory Sciences, 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

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

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

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

The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Abramzon YA et al.

Frontiers in Neuroscience, 2020

Fused in Sarcoma Neuropathology in Neurodegenerative Disease.

Mackenzie IRA et al.

Cold Spring Harbor Perspectives in Medicine, 2017

Aggregation of FET Proteins as a Pathological Change in Amyotrophic Lateral Sclerosis.

Furukawa Y et al.

Advances in Experimental Medicine and Biology, 2017

Pathogenesis of FUS-associated ALS and FTD: insights from rodent models.

Nolan M et al.

Acta Neuropathologica Communications, 2016

A network of RNA and protein interactions in Fronto Temporal Dementia.

Fontana F et al.

Frontiers in Molecular Neuroscience, 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

Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not.

Hardy J et al.

Experimental Neurology, 2014

Activity-dependent FUS dysregulation disrupts synaptic homeostasis.

Sephton CF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

Parkinsonian syndrome in familial frontotemporal dementia.

Siuda J et al.

Parkinsonism & Related Disorders, 2014

The role of FUS gene variants in neurodegenerative diseases.

Deng H et al.

Nature Reviews. Neurology, 2014

Intranuclear aggregation of mutant FUS/TLS as a molecular pathomechanism of amyotrophic lateral sclerosis.

Nomura T et al.

The Journal of Biological Chemistry, 2014

Investigating FUS variation in Parkinson's disease.

Labbé C et al.

Parkinsonism & Related Disorders, 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

The genetics and neuropathology of frontotemporal lobar degeneration.

Sieben A et al.

Acta Neuropathologica, 2012

FUS-related proteinopathies: lessons from animal models.

Lanson NA et al.

Brain Research, 2012

Clinical aspects of familial forms of frontotemporal dementia associated with parkinsonism.

Fujioka S et al.

Journal of Molecular Neuroscience : Mn, 2011

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

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia.

Mackenzie IR et al.

The Lancet. Neurology, 2010

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

Lagier-Tourenne C et al.

Human Molecular Genetics, 2010

Genetic contribution of FUS to frontotemporal lobar degeneration.

Van Langenhove T et al.

Neurology, 2010

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

Guerrero EN et al.

Progress in Neurobiology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."