Associated Papers
Computational optimization of DEK1 calpain domain solubility through integrated structural modelling and data-driven targeted mutagenesis.
Dabiri M et al.
Scientific Reports, 2026
SOD1 mutations in Taiwanese ALS patients: Clinical characteristics, frequency, and a p.T138R founder effect.
Jih KY et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
The potential role of misfolded wild-type SOD1 protein in sporadic amyotrophic lateral sclerosis (ALS): a review of the evidence.
Marlow TR et al.
Neurobiology of Disease, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
The myokine FGF21 associates with enhanced survival in ALS and mitigates stress-induced cytotoxicity.
Guha A et al.
Aging, 2025
Structural Insights into the Dynamics of Water in SOD1 Catalysis and Drug Interactions.
Yapici I et al.
International Journal of Molecular Sciences, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
The Ile35 Residue of the ALS-Associated Mutant SOD1 Plays a Crucial Role in the Intracellular Aggregation of the Molecule.
Asai Y et al.
Molecular Neurobiology, 2025
Therapeutic targeting of the oxidative stress generated by pathological molecular pathways in the neurodegenerative diseases, ALS and Huntington's.
Bajpai A et al.
European Journal of Pharmacology, 2025
Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients: a rare occurrence?
Martinelli I et al.
Neural Regeneration Research, 2025
Mutational and transcriptional profiling of cuproptosis-associated genes in amyotrophic lateral sclerosis.
He D et al.
Genes & Diseases, 2025
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
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants.
Nishiyama A et al.
Neurology. Genetics, 2024
Specific analysis of SOD1 enzymatic activity in CSF from ALS patients with and without SOD1 mutations.
Leykam L et al.
Neurobiology of Disease, 2024
Native State Stabilization of Amyloidogenic Proteins by Kinetic Stabilizers: Inhibition of Protein Aggregation and Clinical Relevance.
Priyanka et al.
Chemmedchem, 2024
Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.
Wiesenfarth M et al.
Journal of Neurology, 2024
The myokine FGF21 associates with enhanced survival in ALS and mitigates stress-induced cytotoxicity.
Guha A et al.
Biorxiv : the Preprint Server for Biology, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants.
Calvo A et al.
Annals of Neurology, 2024
Effects of Pathogenic Mutants of the Neuroprotective RNase 5-Angiogenin in Amyotrophic Lateral Sclerosis (ALS).
Gotte G
Genes, 2024
Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.
Huang M et al.
Translational Neurodegeneration, 2024
MS785-MS27 Reactive Misfolded/Non-Native Zn-Deficient SOD1 Species Exhibit Cytotoxicity and Adopt Heterozygous Conformations in Motor Neurons.
Tokuda E et al.
International Journal of Molecular Sciences, 2024
Computational investigation of the impact of potential AT2R polymorphism on small molecule binding.
Sharma B et al.
Journal of Biomolecular Structure & Dynamics, 2024
Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis.
Domi T et al.
Journal of Neurology, 2024
The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients.
He D et al.
Journal of Neurology, 2024
Computational screening of damaging nsSNPs in human SOD1 genes associated with amyotrophic lateral sclerosis identifies destabilising effects of G38R and G42D mutations through in silico evaluation.
Bhor S et al.
In Silico Pharmacology, 2024
Upregulated miR-10b-5p as a potential miRNA signature in amyotrophic lateral sclerosis patients.
Dash BP et al.
Frontiers in Cellular Neuroscience, 2024
Dysregulation of alternative splicing underlies synaptic defects in familial amyotrophic lateral sclerosis.
Verdile V et al.
Progress in Neurobiology, 2023
Engineering minimal tissue inhibitors of metalloproteinase targeting MMPs via gene shuffling and yeast surface display.
Hosseini A et al.
Protein Science : a Publication of the Protein Society, 2023
Polyphenolic flavonoid compounds act as the inhibitory potential of aggregation process: Implications for the prevention and therapeutics against FALS-associated D101G SOD1 mutant.
Qassim HM et al.
Computational Biology and Chemistry, 2023
Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes.
Dilliott AA et al.
Brain : a Journal of Neurology, 2023
Small molecules targeting different cellular pathologies for the treatment of amyotrophic lateral sclerosis.
Elmansy MF et al.
Medicinal Research Reviews, 2023
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.
Martinelli I et al.
Neural Regeneration Research, 2023
Activating mitofusins interrupts mitochondrial degeneration and delays disease progression in SOD1 mutant amyotrophic lateral sclerosis.
Dang X et al.
Human Molecular Genetics, 2023
Leveraging Base Pair Mammalian Constraint to Understand Genetic Variation and Human Disease.
Sullivan PF et al.
Biorxiv : the Preprint Server for Biology, 2023
Computational insight into in silico analysis and molecular dynamics simulation of the dimer interface residues of ALS-linked hSOD1 forms in apo/holo states: a combined experimental and bioinformatic perspective.
Zaji HD et al.
3 Biotech, 2023
Current State and Future Directions in the Diagnosis of Amyotrophic Lateral Sclerosis.
Vidovic M et al.
Cells, 2023
A Zn-dependent structural transition of SOD1 modulates its ability to undergo phase separation.
Das B et al.
The Embo Journal, 2023
The Role of Superoxide Dismutase 1 in Amyotrophic Lateral Sclerosis: Identification of Signaling Pathways, Regulators, Molecular Interaction Networks, and Biological Functions through Bioinformatics.
Suthar SK et al.
Brain Sciences, 2023
Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.
Cooper-Knock J et al.
Brain Pathology (zurich, Switzerland), 2023
Amyotrophic lateral sclerosis.
Younger DS et al.
Handbook of Clinical 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
Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression.
Kalia M et al.
Computational and Structural Biotechnology Journal, 2023