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Article

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

Journal of the neurological sciences - 15 Jan 2017

Kobatake Yui, Sakai Hiroki, Tsukui Toshihiro, Yamato Osamu, Kohyama Moeko, Sasaki Jun, Kato Shinsuke, Urushitani Makoto, Maeda Sadatoshi, Kamishina Hiroaki

Abstract excerpt

Canine degenerative myelopathy (DM) is a fatal neurodegenerative disorder. Dogs with typical clinical signs carry homozygous mutations in the superoxide dismutase 1 (SOD1) gene; therefore, DM is regarded as a naturally-occurring model of amyotrophic lateral sclerosis (ALS). Despite the presence of a toxic mutant protein, E40K-SOD1 heterozygotes rarely develop clinical signs. Therefore, E40K-heterozygotes may...

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PMID: 27838005
DOI: 10.1016/j.jns.2016.10.034

Genes

SOD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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