Associated Papers
Selenoprotein N and SEPN1-Related Myopathies: Mechanisms, Models, and Therapeutic Perspectives.
Lanza M et al.
Biomolecules, 2026
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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy.
Filipe A et al.
Cell Death and Differentiation, 2021
Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies.
Zhang S et al.
Frontiers in Neurology, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance.
Varone E et al.
Redox Biology, 2019
Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism.
Schweizer U et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016
[Rigid spine congenital muscular dystrophy produced by SEPN1 mutations (RSMD1)].
Rudenskaia GE et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2014
Intersection of selenoproteins and kinase signalling.
Lenart A et al.
Biochimica Et Biophysica Acta, 2013
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
Maggi L et al.
Neuromuscular Disorders : Nmd, 2013
Selenoprotein N in skeletal muscle: from diseases to function.
Castets P et al.
Journal of Molecular Medicine (berlin, Germany), 2012
SEPN1-related myopathies: clinical course in a large cohort of patients.
Scoto M et al.
Neurology, 2011
New molecular findings in congenital myopathies due to selenoprotein N gene mutations.
Cagliani R et al.
Journal of the Neurological Sciences, 2011
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
Maiti B et al.
Human Mutation, 2009
Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.
Jurynec MJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
Functional effects of mutations identified in patients with multiminicore disease.
Zorzato F et al.
Iubmb Life, 2007
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.
Okamoto Y et al.
Neurogenetics, 2006
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
Ferreiro A et al.
American Journal of Human Genetics, 2002
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Moghadaszadeh B et al.
Nature Genetics, 2001