Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.K31K
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SOD1

NM_000454.5:p.K31K

Associated Papers

Efficient induction of motor neuron disease in transgenic G93A SOD1 mice by prion-like seeding.

Xu G et al.

Prion, 2026

An ALS-associated mutant SOD1 protein can be eliminated in microglia culture by selective autophagy.

Murakami K et al.

Neuroscience, 2026

Assessment of the therapeutic effect of IGS2.7, a CK1δ protein kinase inhibitor, in combination with riluzole for the treatment of ALS-associated TDP-43 proteinopathy.

Gomez-Almeria M et al.

Neuropharmacology, 2026

Quantum mechanics as a tool to decipher the mutational landscape of human disease.

Zavitsanou EI et al.

Progress in Biophysics and Molecular Biology, 2026

PML targets and resolves structured protein inclusions to mitigate neurodegeneration.

Wang Y et al.

Nature Cell Biology, 2026

Fast and slow strains of misfolded mutant superoxide dismutase 1 in familial amyotrophic lateral sclerosis.

Xu G et al.

Acta Neuropathologica Communications, 2026

BTK inhibition suppresses neuroinflammation and neurodegeneration in amyotrophic lateral sclerosis.

Liu Q et al.

Brain : a Journal of Neurology, 2026

Amyotrophic Lateral Sclerosis (ALS) Genetics and Microbiota: A Comprehensive Review.

Kurdi MA et al.

International Journal of Molecular Sciences, 2026

Skeletal muscle in spinal muscular atrophy: Critical insights from pathogenesis to therapeutic strategies.

Ottoboni L et al.

Neurobiology of Disease, 2026

Superoxide dismutase impacts extracellular vesicle shedding and uptake.

Prova NS et al.

Free Radical Biology & Medicine, 2026

The Calcium Connection: Explaining Motor Neuron Vulnerability in ALS.

Dellazizzo Toth T et al.

Cells, 2026

Genotype-specific interferon signatures in amyotrophic lateral sclerosis relate to disease severity.

Carletta O et al.

Brain : a Journal of Neurology, 2026

The neurobiology of fatty acids: Metabolism, signaling, and roles in neurodegenerative diseases.

Rojas R et al.

Progress in Lipid Research, 2026

Transcriptomic profiling uncovers mis-splicing and gene fusions in amyotrophic lateral sclerosis.

Xu H et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

Gene-targeted versus broad-spectrum therapies in ALS: comparative lessons and strategic outlook.

Shen Y et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026

Absence of Neuromuscular Dysfunction in Mice with Gut Epithelium-Restricted Expression of ALS Mutation hSOD1G93A.

Dong L et al.

Biomolecules, 2026

Novel extracellular vesicle release pathway facilitated by toxic superoxide dismutase 1 oligomers.

Hnath B et al.

Neurobiology of Disease, 2026

Glycine at Position 93 in SOD1: Mutation-Sensitivity Landscape and Context-Dependent Folding Requirements.

Nam MK et al.

Biochemistry, 2026

Sterile innate immune mechanisms in neurodegenerative diseases.

Ealy A et al.

The Journal of Biological Chemistry, 2026

Molecular Mechanisms and Therapeutic Potential of DJ-1 in Skeletal Muscle Homeostasis and Disease.

Zhang Y et al.

Comprehensive Physiology, 2026

The preclinical discovery and development of edaravone for the treatment of amyotrophic lateral sclerosis: what lessons have we learnt?

Charbonnel T et al.

Expert Opinion on Drug Discovery, 2026

Enlarged Perivascular Spaces (EPVS) and the Risk of Amyotrophic Lateral Sclerosis (ALS): Evidence for Overlapping Genetic Signals in White Matter Without Causal Links.

Huang X et al.

Brain Sciences, 2026

Reduced osteogenic factors and early osteoblast senescence in SOD1(G93A) ALS mouse model.

Özkan B et al.

Jci Insight, 2026

Structural comparison of the human G93A mutant SOD1 to the wild-type SOD1 filaments.

Baek Y et al.

Journal of Molecular Biology, 2026

Inhibiting Glycogen Synthase Kinase 3 Suppresses TDP-43-Mediated Neurotoxicity in a Caspase-Dependent Manner.

White MA et al.

Molecular Neurobiology, 2026

ABCA1 acts as a protective modulator in amyotrophic lateral sclerosis.

Li Q et al.

Iscience, 2026

Hypoxic stress is an early pathogenic event in human VCP-mutant ALS astrocytes.

Franklin HD et al.

Stem Cell Reports, 2026

Molecular Mechanisms and Therapeutic Potential of Degron-Mediated Proteostasis Regulation in Neurodegenerative Diseases.

Nishanth DS et al.

Cellular and Molecular Neurobiology, 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

Heteroaggregation of Wild-Type and ALS Mutant SOD1.

Dashnaw CM et al.

Acs Chemical Neuroscience, 2026

Modulation of the miR-485-3p/PGC-1α Pathway by ASO-Loaded Nanoparticles Attenuates ALS Pathogenesis.

Ryu IS et al.

International Journal of Molecular Sciences, 2026

Oxidative Stress and Lysosomal Dysfunction in Neurodegenerative Diseases: Underlying Mechanisms and Nanotherapeutic Targeting Strategies.

Hu Y et al.

Antioxidants (basel, Switzerland), 2026

Engineered GM1 Intersects Between Mitochondrial and Synaptic Pathways to Ameliorate ALS Pathology.

Pilotto F et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026

TARDBP (TDP-43) Knock-in Zebrafish Display a Late-Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons.

Harji ZA et al.

Annals of Neurology, 2026

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker.

Gautam M et al.

Annals of Clinical and Translational Neurology, 2026

Role of LXRβ in oligodendrocytes in neuronal survival.

Song X et al.

Molecular Psychiatry, 2026

Oligodendroglial Densities and Myelin Structure Are Altered in TDP-43 Related Amyotrophic Lateral Sclerosis.

Lewis KN et al.

Glia, 2026

Axonal Eif5a hypusination controls local translation and mitigates defects in FUS-ALS.

Piol D et al.

Nature Neuroscience, 2026

Mitophagy in the pathogenesis and management of disease.

Wang Q et al.

Cell Research, 2026

Decoding the brain's ATG8 paralog code: LC3-GABARAP specialization at synapses and the astrocyte-neuron interface.

Choi H et al.

Frontiers in Cell and Developmental Biology, 2026

Pharmacological activation of mitophagy antagonizes motor neuron degeneration in a cross-species platform of amyotrophic lateral sclerosis.

Li A et al.

Autophagy, 2025

A mouse model of CHCHD10 p.R15L familial ALS presents mild, age-related motor neuron degeneration without protein instability or mitochondrial dysfunction.

Park J et al.

Biorxiv : the Preprint Server for Biology, 2025

Preclinical Evaluation of the Assembly Modulator PAV-615 in a Mouse Model of C9orf72-Associated ALS/FTD.

Su J et al.

Cells, 2025

Pridopidine, a Potent and Selective Therapeutic Sigma-1 Receptor (S1R) Agonist for Treating Neurodegenerative Diseases.

Gershoni Emek N et al.

Pharmaceuticals (basel, Switzerland), 2025

Hydrogen Sulfide Signaling in Neurodegenerative Movement Disorders.

Pieper AA et al.

Handbook of Experimental Pharmacology, 2025

Pharmacological Activation of Mitophagy Confers Neuroprotective Benefits for Amyotrophic Lateral Sclerosis.

Huang S et al.

Aging and Disease, 2025

BLOC1S1 depletion via splice-switching oligonucleotides improves mitochondrial respiration and rescues ALS phenotypes.

Hor JH et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025

Predicting Phenoconversion to Clinically Manifest ALS: Results of a Large-Scale Proteomic Study.

Ran X et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Revisiting oligodendrocytes in amyotrophic lateral sclerosis using human multicellular stem cell models.

Mouhi S et al.

Trends in Cell Biology, 2025

Structural mechanisms and insights on multiple nanobodies binding diverse SOD1 epitopes.

Cheng S et al.

Communications Biology, 2025

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