Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.I18F
Back to variants list

SOD1

NM_000454.5:p.I18F

Associated Papers

Diagnosis of degenerative myelopathy in a Boston terrier-French bulldog mixed breed.

Chan AMK et al.

The Journal of Small Animal Practice, 2026

Landscapes of missense variant impact for human superoxide dismutase 1.

Axakova A et al.

American Journal of Human Genetics, 2025

40957416 (PubMed )
Supplement: mmc2.xlsx › abundance_map_scores_LLRps

Landscapes of missense variant impact for human superoxide dismutase 1.

Axakova A et al.

Biorxiv : the Preprint Server for Biology, 2025

40060668 (PubMed )
Supplement: media-2.xlsx › activity_map_scores

Survival and deterioration time of walking abilities in dogs homozygous for the SOD1 gene mutation with and without thoracolumbar intervertebral disc protrusion.

Sebestyén P et al.

Frontiers in Veterinary Science, 2025

Frequency of superoxide dismutase 1 c.118: G>A mutation associated with canine degenerative myelopathy in German Shepherd dogs from Uruguay and Paraguay.

Artigas R et al.

Veterinary World, 2024

Genotypic and Allelic Frequencies of Degenerative Myelopathy in an Italian Canine Population.

Ghilardi S et al.

Animals : an Open Access Journal From Mdpi, 2024

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.

Cocostîrc V et al.

Animals : an Open Access Journal From Mdpi, 2023

Prevalence of SOD1 allele associated with degenerative myelopathy in canine population in Greece.

Kountourantzis A et al.

Research in Veterinary Science, 2023

The inhibitory effects of MIF on accumulation of canine degenerative myelopathy-associated mutant SOD1 aggregation.

Nomura S et al.

Research in Veterinary Science, 2022

Molecular Epidemiological Survey for Degenerative Myelopathy in German Shepherd Dogs in Japan: Allele Frequency and Clinical Progression Rate.

Maki S et al.

Animals : an Open Access Journal From Mdpi, 2022

In vitro evidence of propagation of superoxide dismutase-1 protein aggregation in canine degenerative myelopathy.

Tanaka N et al.

Veterinary Journal (london, England : 1997), 2021

Canine SOD1 harboring E40K or T18S mutations promotes protein aggregation without reducing the global structural stability.

Kimura S et al.

Peerj, 2020

Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil.

Santos CRO et al.

Plos One, 2020

Plasma microRNA miR-26b as a potential diagnostic biomarker of degenerative myelopathy in Pembroke welsh corgis.

Nakata K et al.

Bmc Veterinary Research, 2019

Evidence of a genomic insertion in intron 2 of SOD1 causing allelic drop-out during routine diagnostic testing for canine degenerative myelopathy.

Turba ME et al.

Animal Genetics, 2017

Degenerative myelopathy in the Collie breed: a retrospective immunohistochemical analysis of superoxide dismutase 1 in an affected Rough Collie, and a molecular epidemiological survey of the SOD1: c.118G>A mutation in Japan.

Kohyama M et al.

The Journal of Veterinary Medical Science, 2017

Localization of a mutant SOD1 protein in E40K-heterozygous dogs: Implications for non-cell-autonomous pathogenesis of degenerative myelopathy.

Kobatake Y et al.

Journal of the Neurological Sciences, 2017

Canine degenerative myelopathy: a model of human amyotrophic lateral sclerosis.

Nardone R et al.

Zoology (jena, Germany), 2016

Accumulation and aggregate formation of mutant superoxide dismutase 1 in canine degenerative myelopathy.

Nakamae S et al.

Neuroscience, 2015

Neuronal loss and decreased GLT-1 expression observed in the spinal cord of Pembroke Welsh Corgi dogs with canine degenerative myelopathy.

Ogawa M et al.

Veterinary Pathology, 2014

Genotyping assays for the canine degenerative myelopathy-associated c.118G>A (p.E40K) mutation of the SOD1 gene using conventional and real-time PCR methods: a high prevalence in the Pembroke Welsh Corgi breed in Japan.

Chang HS et al.

The Journal of Veterinary Medical Science, 2013

Degenerative myelopathy in a Bernese Mountain Dog with a novel SOD1 missense mutation.

Wininger FA et al.

Journal of Veterinary Internal Medicine, 0

Breed distribution of SOD1 alleles previously associated with canine degenerative myelopathy.

Zeng R et al.

Journal of Veterinary Internal Medicine, 0

DNA testing in neurologic diseases.

O'Brien DP et al.

Journal of Veterinary Internal Medicine, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."