Associated Papers
Missense mutations in intrinsically disordered protein regions link pathogenicity and phase separation.
Kipp OL et al.
The Journal of Biological Chemistry, 2025
Protein Structure-based FUS Mutational Subtypes Are Associated With Protein Mislocalization in Amyotrophic Lateral Sclerosis Patients.
Yang W et al.
Molecular Neurobiology, 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
Aggregates associated with amyotrophic lateral sclerosis sequester the actin-binding protein profilin 2.
Kubinski S et al.
Human Molecular Genetics, 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
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
FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review.
Xiao X et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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
Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.
Scaber J et al.
European Journal of Neurology, 2023
Amyotrophic Lateral Sclerosis, FUS and Protein Synthesis Defects.
Assoni AF et al.
Stem Cell Reviews and Reports, 2023
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.
Suzuki N et al.
Journal of Human Genetics, 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
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
Proteostasis impairment and ALS.
Lambert-Smith IA et al.
Progress in Biophysics and Molecular Biology, 2022
FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance.
Goldstein O et al.
Neurology. Genetics, 2022
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
Modeling cell-autonomous motor neuron phenotypes in ALS using iPSCs.
Hawrot J et al.
Neurobiology of Disease, 2020
Fused in Sarcoma: Properties, Self-Assembly and Correlation with Neurodegenerative Diseases.
Chen C et al.
Molecules (basel, Switzerland), 2019
A juvenile sporadic amyotrophic lateral sclerosis case with P525L mutation in the FUS gene: A rare co-occurrence of autism spectrum disorder and tremor.
Eura N et al.
Journal of the Neurological Sciences, 2019
The multistep hypothesis of ALS revisited: The role of genetic mutations.
Chiò A et al.
Neurology, 2018
Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder.
Gao FB et al.
The Embo Journal, 2017
The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis.
Liu ZJ et al.
Clinical Genetics, 2017
A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.
Corcia P et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017
Therapeutic opportunities and challenges of induced pluripotent stem cells-derived motor neurons for treatment of amyotrophic lateral sclerosis and motor neuron disease.
Jaiswal MK
Neural Regeneration Research, 2017
Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution.
De Marco G et al.
Neuropathology and Applied Neurobiology, 2017
Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis.
Shang Y et al.
Brain Research, 2016
Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan.
Akiyama T et al.
Muscle & Nerve, 2016
Differentiation of control and ALS mutant human iPSCs into functional skeletal muscle cells, a tool for the study of neuromuscolar diseases.
Lenzi J et al.
Stem Cell Research, 2016
Monomethylated and unmethylated FUS exhibit increased binding to Transportin and distinguish FTLD-FUS from ALS-FUS.
Suárez-Calvet M et al.
Acta Neuropathologica, 2016
Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort.
Nakamura R et al.
Neurobiology of Aging, 2016
[Neuronal cells derived from induced pluripotent stem cells to model motoneuron diseases].
Bohl D
Biologie Aujourd'hui, 2016
Autophagy dysregulation by mutant fused in sarcoma--implications for amyotrophic lateral sclerosis.
Soo KY et al.
Cell Death & Disease, 2015
ALS mutant FUS proteins are recruited into stress granules in induced pluripotent stem cell-derived motoneurons.
Lenzi J et al.
Disease Models & Mechanisms, 2015
Emerging mechanisms of molecular pathology in ALS.
Peters OM et al.
The Journal of Clinical Investigation, 2015
De novo FUS mutations in 2 Korean patients with sporadic amyotrophic lateral sclerosis.
Kim YE et al.
Neurobiology of Aging, 2015
Human TDP-43 and FUS selectively affect motor neuron maturation and survival in a murine cell model of ALS by non-cell-autonomous mechanisms.
Wächter N et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2015
Functions of FUS/TLS from DNA repair to stress response: implications for ALS.
Sama RR et al.
Asn Neuro, 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
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
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
The long non-coding RNA nuclear-enriched abundant transcript 1_2 induces paraspeckle formation in the motor neuron during the early phase of amyotrophic lateral sclerosis.
Nishimoto Y et al.
Molecular Brain, 2013
TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.
Lattante S et al.
Human Mutation, 2013
De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China.
Zou ZY et al.
Neurobiology of Aging, 2013