Associated Papers
Selenoprotein N and SEPN1-Related Myopathies: Mechanisms, Models, and Therapeutic Perspectives.
Lanza M et al.
Biomolecules, 2026
SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA.
Germani S et al.
Cell Reports. Medicine, 2024
38402623 (PubMed )
Supplement: mmc1.pdf
Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients.
Fan Y et al.
Frontiers in Genetics, 2022
Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies.
Zhang S et al.
Frontiers in Neurology, 2021
34867752 (PubMed )
Supplement: Table_1.XLSX › list
Selenoprotein N in skeletal muscle: from diseases to function.
Castets P et al.
Journal of Molecular Medicine (berlin, Germany), 2012
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.
Arbogast S et al.
Annals of Neurology, 2009
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