Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.G86R
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SOD1

NM_000454.5:p.G86R

Associated Papers

Cytoplasmic TDP-43 leads to early behavioral impairments without neurodegeneration in a serotonergic neuron-specific C. elegans model.

Lacour A et al.

Scientific Reports, 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

Early brain-wide disruption of sleep microarchitecture in amyotrophic lateral sclerosis.

Lang C et al.

The Journal of Clinical Investigation, 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

CRISPR/Cas9 a genomic engineering technology for treatment in ALS mouse models.

Khan H et al.

Regenerative Therapy, 2025

SLP2/PHB Aggregates in ALS Mouse Models and Patients: Implications Beyond CHCHD10-Associated Motor Neuron Disease.

Genin EC et al.

International Journal of Molecular Sciences, 2025

Does Amyotrophic Lateral Sclerosis (ALS) Have Metabolic Causes from Human Evolution?

Spedding M

Cells, 2025

Oxidative denaturation of Cu/Zn-superoxide dismutase associated with neurodegenerative diseases.

Yoshida M et al.

Protein Science : a Publication of the Protein Society, 2025

Landscapes of missense variant impact for human superoxide dismutase 1.

Axakova A et al.

American Journal of Human Genetics, 2025

Identification of disease-associated molecular signatures in the Prp-TDP-43A315T mouse model of ALS: Toward preclinical biomarker development.

Al Ojaimi Y et al.

Journal of Neuropathology and Experimental Neurology, 2025

Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.

Yuan L et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Diverse effects of coexpression of human SOD1 variants on motor neuron disease.

Tokuda E et al.

Human Molecular Genetics, 2025

Novel Dual Mechanism GRT-X Agonist Acting on Kv7 Potassium Channel/Translocator Protein Receptor Prevents Motoneuron Degeneration Following Exposure to Mouse and Human Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Astrocyte-Conditioned Media.

Masegosa VM et al.

Acs Chemical Neuroscience, 2025

Deciphering hypothalamic pathology in ALS: insights into non-motor symptoms and disease progression.

Chang J et al.

Ebiomedicine, 2025

Genetically Predict Diet-derived Antioxidants and Risk of Neurodegenerative Diseases Among Individuals of European Descent: A Mendelian Randomization Study.

Duan QQ et al.

Brain and Behavior, 2025

Cytoplasmic TDP-43 leads to early functional impairments without neurodegeneration in a Serotonergic Neuron-Specific C. elegans Model.

Lacour A et al.

Biorxiv : the Preprint Server for Biology, 2025

Role of copper in central nervous system physiology and pathology.

Locatelli M et al.

Neural Regeneration Research, 2025

Exploring epigenetic modifications as potential biomarkers and therapeutic targets in amyotrophic lateral sclerosis.

Hou X et al.

Journal of Neurology, 2025

CREB3 gain of function variants protect against ALS.

Megat S et al.

Nature Communications, 2025

Artificial enforcement of the unfolded protein response reduces disease features in multiple preclinical models of ALS/FTD.

Valenzuela V et al.

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

Integrated transcriptomic profiling reveals a STING-mediated Type II Interferon signature in SOD1-mutant amyotrophic lateral sclerosis models.

Hiew JY et al.

Communications Biology, 2025

Landscapes of missense variant impact for human superoxide dismutase 1.

Axakova A et al.

Biorxiv : the Preprint Server for Biology, 2025

Brown Adipose Tissue undergoes pathological perturbations and shapes C2C12 myoblast homeostasis in the SOD1-G93A mouse model of Amyotrophic Lateral Sclerosis.

Rosina M et al.

Heliyon, 2025

Metabolic rate and insulin-independent glucose uptake increase in a TDP-43Q331K mouse model of amyotrophic lateral sclerosis.

McDonald TS et al.

Heliyon, 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

GDF15-GFRAL signaling drives weight loss and lipid metabolism in mouse model of amyotrophic lateral sclerosis.

Cocozza G et al.

Brain, Behavior, and Immunity, 2025

Schwann Cells in Neuromuscular Disorders: A Spotlight on Amyotrophic Lateral Sclerosis.

Moss KR et al.

Cells, 2025

Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients: a rare occurrence?

Martinelli I et al.

Neural Regeneration Research, 2025

A variant of the Hspa8 synaptic chaperone modifies disease in a SOD1G86R mouse model of amyotrophic lateral sclerosis.

Takeda T et al.

Experimental Neurology, 2025

The role of autophagy in the pathogenesis and treatment of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Beckers J et al.

Autophagy Reports, 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

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.

Wiesenfarth M et al.

Journal of Neurology, 2024

Expression Changes of miRNAs in Humans and Animal Models of Amyotrophic Lateral Sclerosis and Their Potential Application for Clinical Diagnosis.

Wang R et al.

Life (basel, Switzerland), 2024

Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China.

Jiang Q et al.

Journal of Medical Genetics, 2024

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

Trehalose Protects against Superoxide Dismutase 1 Proteinopathy in an Amyotrophic Lateral Sclerosis Model.

Magalhães RSS et al.

Antioxidants (basel, Switzerland), 2024

Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.

Huang M et al.

Translational Neurodegeneration, 2024

Cortical hyperexcitability in mouse models and patients with amyotrophic lateral sclerosis is linked to noradrenaline deficiency.

Scekic-Zahirovic J et al.

Science Translational Medicine, 2024

Unraveling the Heterogeneity of ALS-A Call to Redefine Patient Stratification for Better Outcomes in Clinical Trials.

Tzeplaeff L et al.

Cells, 2024

Functional consequences of familial ALS-associated SOD1L84F in neuronal and muscle cells.

Verma S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."