Article
Intrinsic structural vulnerability in the hydrophobic core induces species-specific aggregation of canine SOD1 with degenerative myelopathy-linked E40K mutation.
The Journal of biological chemistry - 1 Jun 2023
Hashimoto Kei, Watanabe Seiji, Akutsu Masato, Muraki Norifumi, Kamishina Hiroaki, Furukawa Yoshiaki, Yamanaka Koji
Abstract excerpt
Canine degenerative myelopathy (DM), a fatal neurodegenerative disease in dogs, shares clinical and genetic features with amyotrophic lateral sclerosis, a human motor neuron disease. Mutations in the SOD1 gene encoding Cu/Zn superoxide dismutase (SOD1) cause canine DM and a subset of inherited human amyotrophic lateral sclerosis. The most frequent DM causative mutation is homozygous E40K mutation, which induces...
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