Associated Papers
Missense mutations in intrinsically disordered protein regions link pathogenicity and phase separation.
Kipp OL et al.
The Journal of Biological Chemistry, 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
Exploring Protein Misfolding in Amyotrophic Lateral Sclerosis: Structural and Functional Insights.
Ivantsik O et al.
Biomedicines, 2025
Post-Translational Variants of Major Proteins in Amyotrophic Lateral Sclerosis Provide New Insights into the Pathophysiology of the Disease.
Bedja-Iacona L et al.
International Journal of Molecular Sciences, 2024
The implications of physiological biomolecular condensates in amyotrophic lateral sclerosis.
Fakim H et al.
Seminars in Cell & Developmental Biology, 2024
Molecular hallmarks of ageing in amyotrophic lateral sclerosis.
Jagaraj CJ et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons.
Shum C et al.
Stem Cell Reports, 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
Animal Models of FUS-Proteinopathy: A Systematic Review.
Rezvykh A et al.
Biochemistry. Biokhimiia, 2024
Upregulated miR-10b-5p as a potential miRNA signature in amyotrophic lateral sclerosis patients.
Dash BP et al.
Frontiers in Cellular Neuroscience, 2024
The Spectrum of Cognitive Dysfunction in Amyotrophic Lateral Sclerosis: An Update.
Jellinger KA
International Journal of Molecular Sciences, 2023
Regulation of RNG105/caprin1 dynamics by pathogenic cytoplasmic FUS and TDP-43 in neuronal RNA granules modulates synaptic loss.
Horio T et al.
Heliyon, 2023
Caenorhabditis elegans as a Model System to Study Human Neurodegenerative Disorders.
Roussos A et al.
Biomolecules, 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
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
Simple models to understand complex disease: 10 years of progress from Caenorhabditis elegans models of amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
Eck RJ et al.
Frontiers in Neuroscience, 2023
FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance.
Goldstein O et al.
Neurology. Genetics, 2022
Modelling amyotrophic lateral sclerosis in rodents.
Todd TW et al.
Nature Reviews. Neuroscience, 2022
Mechanistic Insights of Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis: An Update on a Lasting Relationship.
Candelise N et al.
Metabolites, 2022
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees.
Brenner D et al.
Neurogenetics, 2022
Nearly 30 Years of Animal Models to Study Amyotrophic Lateral Sclerosis: A Historical Overview and Future Perspectives.
Bonifacino T et al.
International Journal of Molecular Sciences, 2021
Identification of a novel interaction of FUS and syntaphilin may explain synaptic and mitochondrial abnormalities caused by ALS mutations.
Salam S et al.
Scientific Reports, 2021
Dysfunction in nonsense-mediated decay, protein homeostasis, mitochondrial function, and brain connectivity in ALS-FUS mice with cognitive deficits.
Ho WY et al.
Acta Neuropathologica Communications, 2021
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
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
Quantitative patterns of motor cortex proteinopathy across ALS genotypes.
Nolan M et al.
Acta Neuropathologica Communications, 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
Pathomechanism Heterogeneity in the Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Disease Spectrum: Providing Focus Through the Lens of Autophagy.
Casterton RL et al.
Journal of Molecular Biology, 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
FUS Recognizes G Quadruplex Structures Within Neuronal mRNAs.
Imperatore JA et al.
Frontiers in Molecular Biosciences, 2020
Elevated FUS levels by overriding its autoregulation produce gain-of-toxicity properties that disrupt protein and RNA homeostasis.
Ho WY et al.
Autophagy, 2019
Fused in Sarcoma: Properties, Self-Assembly and Correlation with Neurodegenerative Diseases.
Chen C et al.
Molecules (basel, Switzerland), 2019
Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis.
Ling SC et al.
Elife, 2019
The neurodegenerative diseases ALS and SMA are linked at the molecular level via the ASC-1 complex.
Chi B et al.
Nucleic Acids Research, 2018
Comprehensive analysis of the mutation spectrum in 301 German ALS families.
Müller K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
The emerging role of minor intron splicing in neurological disorders.
Jutzi D et al.
Cell Stress, 2018
Properties of LINE-1 proteins and repeat element expression in the context of amyotrophic lateral sclerosis.
Pereira GC et al.
Mobile Dna, 2018
The tandem Agenet domain of fragile X mental retardation protein interacts with FUS.
He Q et al.
Scientific Reports, 2017
Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis.
Shang Y et al.
Brain Research, 2016
From animal models to human disease: a genetic approach for personalized medicine in ALS.
Picher-Martel V et al.
Acta Neuropathologica Communications, 2016
Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort.
Nakamura R et al.
Neurobiology of Aging, 2016