Gene Symbol: SELENON
Description: selenoprotein N
Alias: CFTD, MDRS1, RSMD1, RSS, SELN, SEPN1, selenoprotein N, selenoprotein N, 1
Species: human
Products:     SELENON

Top Publications

  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 and find evidence of linkage disequilibrium associated with SEPN1, which encodes the recently described selenoprotein N (ref. 2)...
  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...
  3. Varone E, Pozzer D, Di Modica S, Chernorudskiy A, Nogara L, Baraldo M, et al. SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance. Redox Biol. 2019;24:101176 pubmed publisher
    b>Selenoprotein N (SELENON) is an endoplasmic reticulum (ER) protein whose loss of function leads to a congenital myopathy associated with insulin resistance (SEPN1-related myopathy)...
  4. Wang F, Peng X, Chen Y, Wang Y, Yang M, Guo M. Se Regulates the Contractile Ability of Uterine Smooth Musclevia Selenoprotein N, Selenoprotein T, and Selenoprotein Win Mice. Biol Trace Elem Res. 2019;: pubmed publisher
    ..Se plays a vital role in regulating smooth muscle contractions, and selenoprotein N (SelN), selenoprotein T (SelT), and selenoprotein W (SelW) are closely related to the release of Ca2+
  5. Ziyaee F, Shorafa E, Dastsooz H, Habibzadeh P, Nemati H, Saeed A, et al. A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report. BMC Med Genet. 2019;20:13 pubmed publisher
    ..on the DNA of the patient to investigate all coding regions and uncovered a novel, homozygous missense mutation in SEPN1 gene (c. 1379 C > T, p.Ser460Phe)...
  6. Kazamel M, Milone M. Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy. J Clin Neurosci. 2019;62:238-239 pubmed publisher multiminicore disease caused by a novel compound heterozygous mutation in the selenoprotein N1-encoding gene (SELN)...
  7. Graziano A, Bianco F, D Amico A, Moroni I, Messina S, Bruno C, et al. Prevalence of congenital muscular dystrophy in Italy: a population study. Neurology. 2015;84:904-11 pubmed publisher
    ..11%) and collagen VI deficiency (20.24%). The forms of congenital muscular dystrophy related to mutations in SEPN1 and LMNA were less frequent (6.25% and 5.95%, respectively)...
  8. Radke J, Dreesmann M, Radke M, von Moers A, Abicht A, Stenzel W, et al. The Curse of Apneic Spells. Semin Pediatr Neurol. 2018;26:56-58 pubmed publisher
    ..Although no mutations were detected in RYR1, SEPN1, and DMPK genes, the RAPSN gene revealed one known mutation, p...
  9. Nowrouzian F, Ali A, Badiou C, Dauwalder O, Lina G, Josefsson E. Impacts of enterotoxin gene cluster-encoded superantigens on local and systemic experimental Staphylococcus aureus infections. Eur J Clin Microbiol Infect Dis. 2015;34:1443-9 pubmed publisher
    ..Several superantigen genes, i.e., seg, sei, selm, seln, and selo, are encoded by the enterotoxin gene cluster (egc), which is found in the majority of S. aureus isolates...

More Information


  1. Tordjman M, Dabaj I, Laforet P, Felter A, Ferreiro A, Biyoukar M, et al. Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity. Eur Radiol. 2018;28:5293-5303 pubmed publisher
    ..They were affected by Pompe disease or harbored mutations in RYR1, Collagen VI, LMNA, SEPN1, LAMA2 and MYH7 genes. Each myopathy had a specific pattern of affected muscles recognizable on mWB-MRI...
  2. Tang J, He A, Yan H, Jia G, Liu G, Chen X, et al. Damage to the myogenic differentiation of C2C12 cells by heat stress is associated with up-regulation of several selenoproteins. Sci Rep. 2018;8:10601 pubmed publisher
    ..Furthermore, HS influenced expression of selenoproteins and up-regulated (P?<?0.01-0.05) GPX1, GPX4 and SEPN1 after 6 days of HS...
  3. Zhao H, Tang J, Xu J, Cao L, Jia G, Long D, et al. Selenoprotein Genes Exhibit Differential Expression Patterns Between Hepatoma HepG2 and Normal Hepatocytes LO2 Cell Lines. Biol Trace Elem Res. 2015;167:236-41 pubmed publisher
    ..Among the genes investigated, 10 selenoprotein genes (Gpx1, Gpx3, Gpx4, Selx, Sepp, Sepw1, Sepn1, Selt, Seli, Selh) and 3 cancer signaling-related genes (Bcl-2A, caspase-3, and P38) were upregulated (P &..
  4. Huang J, Ren F, Jiang Y, Xiao C, Lei X. Selenoproteins protect against avian nutritional muscular dystrophy by metabolizing peroxides and regulating redox/apoptotic signaling. Free Radic Biol Med. 2015;83:129-38 pubmed publisher
    ..05) production of 6 selenoproteins (long-form selenoprotein P (SelP-L), GPx1, GPx4, Sep15, SelW, and SelN), but increased levels (P < 0.05) of the short-form selenoprotein P in muscle at weeks 2 and 4...
  5. 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...
  6. Zhang J, Xu B, Huang X, Gao Y, Chen Y, Shan A. Selenium Deficiency Affects the mRNA Expression of Inflammatory Factors and Selenoprotein Genes in the Kidneys of Broiler Chicks. Biol Trace Elem Res. 2016;171:201-7 pubmed publisher
    ..The mRNA levels of 14 selenoprotein genes (Dio1, Dio2, GPx3, Sepp1, SelH, SelI, SelK, Sepn1, SelO, SelW, Sep15, SelT, SelU, and SelS) decreased, and 9 selenoprotein genes (GPx1, GPx2, GPx4, SelPb, Txnrd1, ..
  7. Gladyshev V, Arnér E, Berry M, Brigelius Flohe R, Bruford E, Burk R, et al. Selenoprotein Gene Nomenclature. J Biol Chem. 2016;291:24036-24040 pubmed
    ..selenoprotein I, SELI, EPT1), SELENOK (selenoprotein K, SELK), SELENOM (selenoprotein M, SELM), SELENON (selenoprotein N, SEPN1, SELN), SELENOO (selenoprotein O, SELO), SELENOP (selenoprotein P, SeP, SEPP1, SELP), SELENOS (..
  8. Fan R, Yao H, Zhao X, Cao C, Yang T, Luan Y, et al. Gene expression of selenoproteins can be regulated by selenoprotein K silencing in chicken myoblasts. Biometals. 2016;29:679-89 pubmed publisher
    ..Gpx1, Gpx2, Gpx3, Gpx4, Txnrd1, Txnrd2, Txnrd3, Sepw1, Selh, Sepp1, Selo and Sepx1, another group including Sepn1, Sels, Selt, Selm and Sep15 and other group including Dio2 and Dio3...
  9. Appenzeller Herzog C, Simmen T. ER-luminal thiol/selenol-mediated regulation of Ca2+ signalling. Biochem Soc Trans. 2016;44:452-9 pubmed publisher
    ..examples are the activating interactions of Ero1? with inositol 1,4,5-trisphosphate receptors (IP3Rs) or of selenoprotein N (SEPN1) with sarco/endoplasmic reticulum Ca(2+)transport ATPase 2 (SERCA2)...
  10. Zhao Y, Hu J, Zhao Z, Shen H, Bing Q, Li N. Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort. Muscle Nerve. 2016;54:432-8 pubmed publisher
    Ryanodine receptor 1 (RYR1), myosin heavy chain 7 (MYH7), and selenoprotein N1 (SEPN1) mutations are associated with core myopathies. RYR1 mutations cause most cases of central core disease (CCD)...
  11. Tsai K, Leung C, Lo Y, Chen T, Chan W, Yu S, et al. Arm Selection Preference of MicroRNA-193a Varies in Breast Cancer. Sci Rep. 2016;6:28176 pubmed publisher
    ..Furthermore, NLN and CCND1, PLAU, and SEPN1 were directly targeted by miR-193a-5p and miR-193a-3p, respectively, in breast cancer cells...
  12. Caggiano S, Khirani S, Dabaj I, Cavassa E, Amaddeo A, Arroyo J, et al. Diaphragmatic dysfunction in SEPN1-related myopathy. Neuromuscul Disord. 2017;27:747-755 pubmed publisher
    b>SEPN1-related myopathy (SEPN1-RM) is characterized by predominant axial muscle weakness, early scoliosis, rigid spine and severe respiratory insufficiency...
  13. Moulin M, Ferreiro A. Muscle redox disturbances and oxidative stress as pathomechanisms and therapeutic targets in early-onset myopathies. Semin Cell Dev Biol. 2017;64:213-223 pubmed publisher
    ..Inherited defects of the reductase selenoprotein N in SEPN1-related myopathy leads to chronic OxS of monogenic origin as a primary disease pathomechanism...
  14. Roetzer A, Gruener C, Haller G, Beyerly J, Model N, Eibl M. Enterotoxin Gene Cluster-Encoded SEI and SElN from Staphylococcus aureus Isolates are Crucial for the Induction of Human Blood Cell Proliferation and Pathogenicity in Rabbits. Toxins (Basel). 2016;8: pubmed
    ..Finally, nanogram amounts of purified rSEI and rSElN led to lethality in vivo, pointing out the importance of both as virulence determinants among egc superantigens. ..
  15. Sun L, Pi D, Zhao L, Wang X, Zhu L, Qi D, et al. Response of Selenium and Selenogenome in Immune Tissues to LPS-Induced Inflammatory Reactions in Pigs. Biol Trace Elem Res. 2017;177:90-96 pubmed publisher
    ..Along with 10 previously reported selenoprotein genes, the response of Txnrd2, Txnrd3, Sep15, Selh, Seli, Seln, Selo, Selt, Selx, and Sephs2 to inflammatory reaction in immune tissues were newly illustrated in this study...
  16. Xu J, Zhang C, Cao C, Zhu S, Li H, Sun Y, et al. Dietary Selenium Status Regulates the Transcriptions of Selenoproteome and Activities of Selenoenzymes in Chicken Kidney at Low or Super-nutritional Levels. Biol Trace Elem Res. 2016;170:438-48 pubmed publisher
    ..Dietary low Se downregulated the mRNA expressions of Gpx1-4, Txnrd3, Sepn1, Selw, Sepx1, Selh, and SEPSECS...
  17. Merz A, Stephan R, Johler S. Genotyping and DNA microarray based characterization of Staphylococcus aureus isolates from rabbit carcasses. Meat Sci. 2016;112:86-9 pubmed publisher
    ..In addition, the egc operon, encoding the newly described staphylococcal enterotoxins SEG/SEI/SElM/SElN/SElO/SElU, was found in all isolates except those of t091...
  18. Wang X, Bao R, Fu J. The Antagonistic Effect of Selenium on Cadmium-Induced Damage and mRNA Levels of Selenoprotein Genes and Inflammatory Factors in Chicken Kidney Tissue. Biol Trace Elem Res. 2018;181:331-339 pubmed publisher
    ..Txnrd2, Txnrd3, Dio1, Dio2, Dio3, SPS2, Sepp1, SelPb, Sep15, Selh, Seli, Selm, Selo, Sels, Sepx1, Selu, Selk, Selw, Seln, Selt)...
  19. Li X, Xing M, Chen M, Zhao J, Fan R, Zhao X, et al. Effects of selenium-lead interaction on the gene expression of inflammatory factors and selenoproteins in chicken neutrophils. Ecotoxicol Environ Saf. 2017;139:447-453 pubmed publisher
    ..GPX4, Dio1, Dio2, Dio3, Txnrd1, Txnrd2, Txnrd3, SELS, SPS2, SELK, SELW1, SEP15, SEPX1, SELT, SELI, SELO, SELM, SEPN1, SEPP1, SELU, SELH) and inflammatory factors (TNF-?, COX-2, iNOS, NF-?B), and iNOS protein level in chicken ..
  20. Pozzer D, Favellato M, Bolis M, Invernizzi R, Solagna F, Blaauw B, et al. Endoplasmic Reticulum Oxidative Stress Triggers Tgf-Beta-Dependent Muscle Dysfunction by Accelerating Ascorbic Acid Turnover. Sci Rep. 2017;7:40993 pubmed publisher
    ..exon expression array showed that the combined genetic modulation of the two master ER redox proteins, selenoprotein N (SEPN1) and endoplasmic oxidoreductin 1 (ERO1), led to an SEPN1-related myopathic phenotype due to excessive ..
  21. Jiang X, Cao C, Li Z, Li W, Zhang C, Lin J, et al. Delineating hierarchy of selenotranscriptome expression and their response to selenium status in chicken central nervous system. J Inorg Biochem. 2017;169:13-22 pubmed publisher
    ..Glutathione peroxidase 4 (Gpx4), Selenoprotein P (Sepp1), Selenoprotein O (Selo), Selenoprotein 15 (Sel15), Selenoprotein N (Seln), Glutathione peroxidase 2 (Gpx2) and Selenoprotein P 2 (Sepp2) take more necessary function in the ..
  22. Monies D, Alhindi H, Almuhaizea M, Abouelhoda M, Alazami A, Goljan E, et al. A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies. Hum Genomics. 2016;10:32 pubmed
    ..mutations in genes associated with congenital disorder of glycosylation (ALG2), rigid spine muscular dystrophy 1 (SEPN1), inclusion body myopathy2/Nonaka myopathy (GNE), and neuropathy (WNK1)...
  23. Gao H, Liu C, Song S, Fu J. Effects of Dietary Selenium Against Lead Toxicity on mRNA Levels of 25 Selenoprotein Genes in the Cartilage Tissue of Broiler Chicken. Biol Trace Elem Res. 2016;172:234-41 pubmed publisher
    ..of Gpx2, Gpx3, Gpx4, Txnrd1, Txnrd2, Dio2, Dio3, Seli, Selh, SPS2, Sepx1, Selk, Selw, Selo, Selm, Sep15, Selpb, Sepn1, and Selt induced by Pb exposure...
  24. Lan X, Xing J, Gao H, Li S, Quan L, Jiang Y, et al. Decreased Expression of Selenoproteins as a Poor Prognosticator of Gastric Cancer in Humans. Biol Trace Elem Res. 2017;178:22-28 pubmed publisher
    ..The expression of 25 selenoprotein genes (Dio1, Dio2, Dio3, Gpx1, Gpx2, Gpx3, Gpx4, Gpx6, SelH, SelI, SelK, SelM, SelN, SelO, SelP, SelS, SelT, SelV, SelW, SelX, Sel15, Sps2, TR1, TR2, and TR3) in human gastric cancer tissues, para-..
  25. Gutierrez T, Simmen T. Endoplasmic reticulum chaperones tweak the mitochondrial calcium rheostat to control metabolism and cell death. Cell Calcium. 2018;70:64-75 pubmed publisher
    ..The selenoprotein SEPN1 is a classic example for such a role...
  26. Wang Q, Huang J, Zhang H, LEI X, Du Z, Xiao C, et al. Selenium Deficiency-Induced Apoptosis of Chick Embryonic Vascular Smooth Muscle Cells and Correlations with 25 Selenoproteins. Biol Trace Elem Res. 2017;176:407-415 pubmed publisher
    ..addition, Gpx1, Gpx3, Gpx4, SepW1, and Sep15 mRNAs were all highly expressed in VSMCs, whereas Gpx2, Dio1, SepN1, SelO, and SelPb were at lower levels...
  27. Juszczuk Kubiak E, Bujko K, Cymer M, Wicińska K, Gabryszuk M, Pierzchała M. Effect of Inorganic Dietary Selenium Supplementation on Selenoprotein and Lipid Metabolism Gene Expression Patterns in Liver and Loin Muscle of Growing Lambs. Biol Trace Elem Res. 2016;172:336-45 pubmed publisher
    ..were found in the expression of GPX1, GPX2, SEPM, SEPW1, SEP15, SEPGS2, and TXNRD1 in the liver, and GPX1, SEPP1, SEPN1, SEPW1, SEP15, and MSRB1 in the LD muscle between S and C lambs...
  28. Fijałkowski K, Peitler D, Karakulska J. Staphylococci isolated from ready-to-eat meat - Identification, antibiotic resistance and toxin gene profile. Int J Food Microbiol. 2016;238:113-120 pubmed publisher
    ..The most prevalent genes were: sei (36% isolates) among enterotoxins, seln (32% isolates) among enterotoxin-like proteins and eta encoding exfoliative toxin A (37% isolates)...
  29. Liewluck T, Milone M, Tian X, Engel A, Staff N, Wong L. Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations. Muscle Nerve. 2016;53:984-8 pubmed publisher
    ..Mutations in the selenoprotein N1-encoding gene (SEPN1) and ryanodine receptor 1-encoding gene (RYR1) are responsible for half of the reported cases...
  30. Clarke N, Kidson W, Quijano Roy S, Estournet B, Ferreiro A, Guicheney P, et al. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol. 2006;59:546-52 pubmed
    Our first objective was to determine whether SEPN1 gene mutations are a cause of congenital fiber-type disproportion (CFTD), a rare form of congenital myopathy in which relative hypotrophy of type 1 (slow twitch) muscle fibers is the ..
  31. Scoto M, Cirak S, Mein R, Feng L, Manzur A, Robb S, et al. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology. 2011;76:2073-8 pubmed publisher
    To assess the clinical course and genotype-phenotype correlations in patients with selenoprotein-related myopathy (SEPN1-RM) due to selenoprotein N1 gene (SEPN1) mutations for a retrospective cross-sectional study.
  32. Okamoto Y, Takashima H, Higuchi I, Matsuyama W, Suehara M, Nishihira Y, et al. Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. Neurogenetics. 2006;7:175-83 pubmed
    Mutations of selenoprotein N, 1 gene (SEPN1) cause rigid spine with muscular dystrophy type 1 (RSMD1), multiminicore disease, and desmin-related myopathy. We found two novel SEPN1 mutations in two Japanese patients with RSMD1...
  33. Ferreiro A, Ceuterick de Groote C, Marks J, Goemans N, Schreiber G, Hanefeld F, et al. Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann Neurol. 2004;55:676-86 pubmed
    ..Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly ..
  34. Lin L, Shen S, Tye A, Cai J, Jiang P, Davidson B, et al. Diverse splicing patterns of exonized Alu elements in human tissues. PLoS Genet. 2008;4:e1000225 pubmed publisher
    ..Most of such exons are derived from ancient Alu elements in the genome. In SEPN1, mutations of which are linked to a form of congenital muscular dystrophy, the muscle-specific inclusion of an Alu-..
  35. Venance S, Koopman W, Miskie B, Hegele R, Hahn A. Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. Neurology. 2005;64:395-6 pubmed
  36. Sun Z, Liu C, Pan T, Yao H, Li S. Selenium accelerates chicken dendritic cells differentiation and affects selenoproteins expression. Dev Comp Immunol. 2017;77:30-37 pubmed publisher
    ..Principal component analysis showed that the expression of selenoproteins SelW, SelK, Dio3, GPX1, GPX2, SelN, SelS, SelH in chicken DCs was highly correlated, and SelW had highest correlation with the cell surface markers ..
  37. Ardissone A, Bragato C, Blasevich F, Maccagnano E, Salerno F, Gandioli C, et al. SEPN1-related myopathy in three patients: novel mutations and diagnostic clues. Eur J Pediatr. 2016;175:1113-8 pubmed publisher
    Mutations in SEPN1 cause selenoprotein N (SEPN)-related myopathy (SEPN-RM) characterized by early-onset axial and neck weakness, spinal rigidity, respiratory failure and histopathological features, ranging from mild dystrophic signs to a ..
  38. Aho H, Schwemmer M, Tessman D, Murphy D, Mattei G, Engel W, et al. Isolation, expression, and chromosomal localization of the human mitochondrial capsule selenoprotein gene (MCSP). Genomics. 1996;32:184-90 pubmed
    ..Northern blot and in situ hybridization experiments demonstrate that the expression of the human MCS gene is restricted to haploid spermatids. The human gene was assigned to q21 of chromosome 1. ..
  39. Schweizer U, Fradejas Villar N. Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism. FASEB J. 2016;30:3669-3681 pubmed
    ..Mutations in selenoprotein N (SEPN1) lead to a spectrum of disorders collectively called SEPN1-related myopathy, and mutations in ..
  40. Dai Y, Liang S, Huang Y, Chen L, Banerjee S. Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1. Oncotarget. 2016;7:83843-83849 pubmed publisher
    Rigid spine muscular dystrophy 1 (RSMD1) is a neuromuscular disorder, manifested with poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity with an early ventilatory insufficiency which can ..
  41. Fu X, Shen Y, Wang W, Li X. MiR-30a-5p ameliorates spinal cord injury-induced inflammatory responses and oxidative stress by targeting Neurod 1 through MAPK/ERK signalling. Clin Exp Pharmacol Physiol. 2018;45:68-74 pubmed publisher
    ..of miR-30a-5p strengthened the scavenging of oxygen free radicals accompanied by an increase in the expression of SEPN1, TXNL1 and GPX1...
  42. Liu Q, Yang J, Cai J, Luan Y, Sattar H, Liu M, et al. Analysis of the Interactions Between Thioredoxin and 20 Selenoproteins in Chicken. Biol Trace Elem Res. 2017;179:304-317 pubmed publisher
    ..glutathione peroxidase 4 (Gpx4), selenoprotein H (SelH), selenoprotein I (SelI), selenoprotein M (SelM), selenoprotein N (SelN), selenoprotein T (SelT), selenoprotein U (SelU), selenoprotein W (SelW), selenoprotein 15 (Sep15), ..
  43. Allamand V, Richard P, Lescure A, Ledeuil C, Desjardin D, Petit N, et al. A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy. EMBO Rep. 2006;7:450-4 pubmed
    Mutations in the SEPN1 gene encoding the selenoprotein N (SelN) have been described in different congenital myopathies...
  44. Howard M, Aggarwal G, Anderson C, Khatri S, Flanigan K, Atkins J. Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons. EMBO J. 2005;24:1596-607 pubmed
    ..stop codon redefinition element located adjacent to a selenocysteine-encoding UGA codon in the eukaryal gene, SEPN1. This element is sufficient to stimulate high-level (6%) translational redefinition of the SEPN1 UGA codon in ..
  45. Maiti B, Arbogast S, Allamand V, Moyle M, Anderson C, Richard P, et al. A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. Hum Mutat. 2009;30:411-6 pubmed publisher
    ..The SEPN1 gene encodes selenoprotein N (SelN), which contains the amino acid selenocysteine (Sec)...
  46. Castets P, Lescure A, Guicheney P, Allamand V. Selenoprotein N in skeletal muscle: from diseases to function. J Mol Med (Berl). 2012;90:1095-107 pubmed publisher
    b>Selenoprotein N (SelN) deficiency causes several inherited neuromuscular disorders collectively termed SEPN1-related myopathies, characterized by early onset, generalized muscle atrophy, and muscle weakness affecting especially axial ..
  47. Zhou J, Li C, Gu G, Wang Q, Guo M. Selenoprotein N Was Required for the Regulation of Selenium on the Uterine Smooth Muscle Contraction in Mice. Biol Trace Elem Res. 2018;183:138-146 pubmed publisher
    ..b>Selenoprotein N (SelN) is closely related to Ca2+ release...
  48. Lescure A, Gautheret D, Carbon P, Krol A. Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif. J Biol Chem. 1999;274:38147-54 pubmed
    ..For the first time, four novel selenoproteins were discovered based on a computational screen for the RNA hairpin directing selenocysteine incorporation. ..
  49. Kim B, Jung J, Jang J, Kang K, Kang S. Nuclear Argonaute 2 regulates adipose tissue-derived stem cell survival through direct control of miR10b and selenoprotein N1 expression. Aging Cell. 2011;10:277-91 pubmed publisher
    ..The Ago2-binding gene selenoprotein N1 (SEPN1) was also effectively involved in ATSC survival and self-renewal through ROS-mediated p38 MAPK inactivation.
  50. Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C, et al. Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. Am J Hum Genet. 1998;62:1439-45 pubmed
    ..presence of early rigidity of the spine, scoliosis, and reduced vital capacity, as found in rigid-spine syndrome (RSS)...
  51. Gao Y, Zhang J, Huang X, Zhang G. Glutathione Peroxidase 1, Selenoprotein K, and Selenoprotein H May Play Important Roles in Chicken Testes in Response to Selenium Deficiency. Biol Trace Elem Res. 2017;179:271-276 pubmed publisher
    ..05). However, the expression levels of Gpx2, Sepn1, Seli, Selpb, Sepx1, HSP27, and inflammatory factors (iNOS, TNF-?, COX-2, and HO-1) were increased by Se ..
  52. Tajsharghi H, Darin N, Tulinius M, Oldfors A. Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). Neuromuscul Disord. 2005;15:299-302 pubmed
    Mutations in SEPN1 have been associated with three autosomal recessive congenital myopathies, including rigid spine muscular dystrophy, multiminicore disease and desmin-related myopathy with Mallory body-like inclusions...
  53. 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 ..
  54. 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...
  55. Sframeli M, Sarkozy A, Bertoli M, Astrea G, Hudson J, Scoto M, et al. Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. Neuromuscul Disord. 2017;27:793-803 pubmed publisher
    ..4%), followed by dystroglycanopathies (26.5%), Ullrich-CMD (15.7%), SEPN1 (11.65%) and LMNA (8.8%) gene related CMDs...
  56. Schoenmakers E, Chatterjee K. Identification of Genetic Disorders Causing Disruption of Selenoprotein Biosynthesis. Methods Mol Biol. 2018;1661:325-335 pubmed publisher
    ..thyroid function tests due to the impaired activity of deiodinase selenoenzymes, myopathic features linked to SEPN1 deficiency and phenotypes resulting from increased levels of reactive oxygen species attributable to lack of ..
  57. D Amico A, Haliloglu G, Richard P, Talim B, Maugenre S, Ferreiro A, et al. Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. Neuromuscul Disord. 2005;15:521-4 pubmed
    ..prominent weakness of neck extensor muscles is associated with mutations in lamin A/C (LMNA) and selenoprotein N1 (SEPN1) genes, respectively...
  58. Ferreiro A, Quijano Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bonnemann C, et al. 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. Am J Hum Genet. 2002;71:739-49 pubmed
    ..On the basis of clinical and morphological data, we suspected a relationship between classical MmD and the selenoprotein N gene (SEPN1), which is located on chromosome 1p36 (RSMD1 locus) and is responsible for the congenital ..
  59. Yang J, Hamid S, Liu Q, Cai J, Xu S, Zhang Z. Gene expression of selenoproteins can be regulated by thioredoxin(Txn) silence in chicken cardiomyocytes. J Inorg Biochem. 2017;177:118-126 pubmed publisher
    ..15-kDa Selenoprotein (Selp15), Selenoprotein h (Selh), Selenoprotein u (Selu), Selenoprotein i (Seli), Selenoprotein n (Seln), Selenoprotein p1 (Sepp1), Selenoprotein o (Selo), Selenoprotein s (Sels), Selenoprotein synthetase 2 (..
  60. Cagliani R, Fruguglietti M, Berardinelli A, D Angelo M, Prelle A, Riva S, et al. New molecular findings in congenital myopathies due to selenoprotein N gene mutations. J Neurol Sci. 2011;300:107-13 pubmed publisher
    b>Selenoprotein N-related myopathy (SEPN1-RM) is an early-onset muscle disorder that can manifest clinically as congenital muscular dystrophy with spinal rigidity and can result in specific pathological entities such as multiminicore ..