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Cellular analysis of SOD1 protein-aggregation propensity and toxicity: a case of ALS with slow progression harboring homozygous SOD1-D92G mutation

Mutations within Superoxide dismutase 1 (SOD1) cause amyotrophic lateral sclerosis (ALS), accounting for approximately 20% of familial cases. The pathological feature is a loss of motor neurons with enhanced formation of intracellular misfolded SOD1. Homozygous SOD1-D90A in familial ALS has been rep...

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Detalles Bibliográficos
Autores principales: Sawamura, Masanori, Imamura, Keiko, Hikawa, Rie, Enami, Takako, Nagahashi, Ayako, Yamakado, Hodaka, Ichijo, Hidenori, Fujisawa, Takao, Yamashita, Hirofumi, Minamiyama, Sumio, Kaido, Misako, Wada, Hiromi, Urushitani, Makoto, Inoue, Haruhisa, Egawa, Naohiro, Takahashi, Ryosuke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314329/
https://www.ncbi.nlm.nih.gov/pubmed/35879519
http://dx.doi.org/10.1038/s41598-022-16871-3