Associated Papers
Fast and slow strains of misfolded mutant superoxide dismutase 1 in familial amyotrophic lateral sclerosis.
Xu G et al.
Acta Neuropathologica Communications, 2026
Glycine at Position 93 in SOD1: Mutation-Sensitivity Landscape and Context-Dependent Folding Requirements.
Nam MK et al.
Biochemistry, 2026
Clinical trajectories and genetic profiles of SOD1-related amyotrophic lateral sclerosis: insights from a single-center cohort in India.
Keerthipriya MS et al.
Journal of Neurology, 2026
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
Exploring Protein Misfolding in Amyotrophic Lateral Sclerosis: Structural and Functional Insights.
Ivantsik O et al.
Biomedicines, 2025
Aggregates associated with amyotrophic lateral sclerosis sequester the actin-binding protein profilin 2.
Kubinski S et al.
Human Molecular Genetics, 2025
HAP/ClpP-mediated disaggregation and degradation of Mutant SOD1 aggregates: A potential therapeutic strategy for Amyotrophic lateral sclerosis (ALS).
Tserennadmid B et al.
Biochemical and Biophysical Research Communications, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.
Luan T et al.
Neuroscience Bulletin, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Copper toxicity and deficiency: the vicious cycle at the core of protein aggregation in ALS.
Min JH et al.
Frontiers in Molecular Neuroscience, 2024
Ubiquitin proteasome system and glaucoma: A survey of genetics and molecular biology studies supporting a link with pathogenic and therapeutic relevance.
Pandino I et al.
Molecular Aspects of Medicine, 2023
The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.
Martinelli I et al.
Neural Regeneration Research, 2023
Protein Aggregates and Aggrephagy in Myopathies.
Gibertini S et al.
International Journal of Molecular Sciences, 2023
Amyotrophic lateral sclerosis.
Younger DS et al.
Handbook of Clinical Neurology, 2023
Small junction, big problems: Neuromuscular junction pathology in mouse models of amyotrophic lateral sclerosis (ALS).
Alhindi A et al.
Journal of Anatomy, 2022
Optineurin Deficiency and Insufficiency Lead to Higher Microglial TDP-43 Protein Levels.
Prtenjaca N et al.
International Journal of Molecular Sciences, 2022
SOD1 in ALS: Taking Stock in Pathogenic Mechanisms and the Role of Glial and Muscle Cells.
Peggion C et al.
Antioxidants (basel, Switzerland), 2022
The G41D mutation in SOD1-related amyotrophic lateral sclerosis exhibits phenotypic heterogeneity among individuals: A case report and literature review.
Zhao X et al.
Medicine, 2022
SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.
Berdyński M et al.
Scientific Reports, 2022
Emerging views of OPTN (optineurin) function in the autophagic process associated with disease.
Qiu Y et al.
Autophagy, 2022
The Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.
Scarian E et al.
Frontiers in Neurology, 2022
Case report: p.Glu134del SOD1 mutation in two apparently unrelated ALS patients with mirrored phenotype.
Gianferrari G et al.
Frontiers in Neurology, 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
A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation.
Ricci C et al.
Genes, 2021
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.
Muratet F et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
DNA damage as a mechanism of neurodegeneration in ALS and a contributor to astrocyte toxicity.
Kok JR et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Variation in the vulnerability of mice expressing human superoxide dismutase 1 to prion-like seeding: a study of the influence of primary amino acid sequence.
Ayers JI et al.
Acta Neuropathologica Communications, 2021
Dysregulations of Expression of Genes of the Ubiquitin/SUMO Pathways in an In Vitro Model of Amyotrophic Lateral Sclerosis Combining Oxidative Stress and SOD1 Gene Mutation.
Dangoumau A et al.
International Journal of Molecular Sciences, 2021
Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis.
Kuźma-Kozakiewicz M et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
Amyotrophic Lateral Sclerosis Genes in Drosophila melanogaster.
Layalle S et al.
International Journal of Molecular Sciences, 2021
SOD1, more than just an antioxidant.
Eleutherio ECA et al.
Archives of Biochemistry and Biophysics, 2021
Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis.
Pereira GRC et al.
Plos One, 2021
Moving Toward Patient-Tailored Treatment in ALS and FTD: The Potential of Genomic Assessment as a Tool for Biological Discovery and Trial Recruitment.
Broce IJ et al.
Frontiers in Neuroscience, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
Pathogenic Genome Signatures That Damage Motor Neurons in Amyotrophic Lateral Sclerosis.
Yousefian-Jazi A et al.
Cells, 2020
A Systematic and Comprehensive Review on Disease-Causing Genes in Amyotrophic Lateral Sclerosis.
Srinivasan E et al.
Journal of Molecular Neuroscience : Mn, 2020
ALS-Related Mutant SOD1 Aggregates Interfere with Mitophagy by Sequestering the Autophagy Receptor Optineurin.
Tak YJ et al.
International Journal of Molecular Sciences, 2020
SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum.
Tasca G et al.
European Journal of Neurology, 2020
Characterization of the activity, aggregation, and toxicity of heterodimers of WT and ALS-associated mutant Sod1.
Brasil AA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019