Gene Symbol: Selenon
Description: selenoprotein N
Alias: Sepn1, selenoprotein N, LOW QUALITY PROTEIN: selenoprotein N, selenoprotein N, 1
Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano Roy S, Merlini L, et al
. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet. 2001;29:17-8 pubmed
..locus and find evidence of linkage disequilibrium associated with SEPN1, which encodes the recently described selenoprotein N (ref. 2)...
Petit N, Lescure A, Rederstorff M, Krol A, Moghadaszadeh B, Wewer U, et al
. Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. Hum Mol Genet. 2003;12:1045-53 pubmed
..SEPN1 codes for selenoprotein N, a new member of the selenoprotein family, the function of which is still unknown...
Jurynec M, Xia R, Mackrill J, Gunther D, Crawford T, Flanigan K, et al
. Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. Proc Natl Acad Sci U S A. 2008;105:12485-90 pubmed publisher
Mutations affecting the seemingly unrelated gene products, SepN1, a selenoprotein of unknown function, and RyR1, the major component of the ryanodine receptor intracellular calcium release channel, result in an overlapping spectrum of ..
Arbogast S, Beuvin M, Fraysse B, Zhou H, Muntoni F, Ferreiro A. Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. Ann Neurol. 2009;65:677-86 pubmed publisher
Mutations of the selenoprotein N gene (SEPN1) cause SEPN1-related myopathy (SEPN1-RM), a novel early-onset muscle disorder formerly divided into four different nosological categories...
Castets P, Bertrand A, Beuvin M, Ferry A, Le Grand F, Castets M, et al
. Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. Hum Mol Genet. 2011;20:694-704 pubmed publisher
b>Selenoprotein N (SelN) deficiency causes a group of inherited neuromuscular disorders termed SEPN1-related myopathies (SEPN1-RM)...
Rederstorff M, Castets P, Arbogast S, Laine J, Vassilopoulos S, Beuvin M, et al
. Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy. PLoS ONE. 2011;6:e23094 pubmed publisher
Selenium is an essential trace element and selenoprotein N (SelN) was the first selenium-containing protein shown to be directly involved in human inherited diseases...
Moghadaszadeh B, Rider B, Lawlor M, Childers M, Grange R, Gupta K, et al
. Selenoprotein N deficiency in mice is associated with abnormal lung development. FASEB J. 2013;27:1585-99 pubmed publisher
Mutations in the human SEPN1 gene, encoding selenoprotein N (SepN), cause SEPN1-related myopathy (SEPN1-RM) characterized by muscle weakness, spinal rigidity, and respiratory insufficiency...
Marino M, Stoilova T, Giorgi C, Bachi A, Cattaneo A, Auricchio A, et al
. SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activity. Hum Mol Genet. 2015;24:1843-55 pubmed publisher
b>Selenoprotein N (SEPN1) is a broadly expressed resident protein of the endoplasmic reticulum (ER) whose loss-of-function inexplicably leads to human muscle disease...