Article
Unravelling the role of ascorbic acid and ER stress in SEPN1-related myopathy
2020-01-01
Abstract excerpt
Selenoprotein N1 (SEPN1) is a member of the selenocysteine-containing protein family, that is localised in the endoplasmic reticulum (ER) and ubiquitously expressed throughout the body. Mutations in the human SEPN1 gene were identified as the genetic cause of a muscle disease referred as SEPN1-related myopathy (SEPN1-RM), in which the main clinical features are axial weakness, scoliosis, a variable degree of spina...
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Identifiers and source
- Literature Corpus work
- 8ef0d711-7aae-5b62-a79e-dd320bc0d8f4
- DOI
- 10.21954/ou.ro.000118c1