SELENON, selenoprotein N, 57190

N. diseases: 147; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. 30932294 2019
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group BEFREE There was progressive respiratory impairment necessitating non-invasive ventilation despite preserved ambulation, a combination of features often seen in SEPN1- or NEB-related myopathies. 31130376 2019
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE These findings suggest that SELENON is part of an ER stress-dependent antioxidant response and that the CHOP/ERO1 branch of the ER stress response is a novel pathogenic mechanism underlying SELENON-related myopathies. 30391828 2019
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group BEFREE Furthermore, the hind limb skeletal muscles of SELENON KO mice fed a high-fat diet mirrors the features of saturated fatty acid-treated myotubes, and show signs of myopathy with a compromised force production. 30921636 2019
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE Muscle imaging findings in patients with axial involvement provide significant clues permitting the distinction between MYH7-related myopathies and other axial myopathies such as those related to SEPN1 and LMNA genes.Muscle Nerve 58: 224-234, 2018. 29624713 2018
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE In conclusion, this study sheds new light on the molecular mechanism of SEPN1-related myopathies and indicates that the TGF-beta/ERO1/ascorbic acid axis offers potential for their treatment. 28106121 2017
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE OxS being drug-targetable, it represents an interesting therapeutic target for these incurable conditions, and following preclinical correction of the cell or animal model phenotype, the first clinical trials with the antioxidants N-acetylcysteine (SEPN1- and RYR1-related myopathies) or epigallocatechin-gallate (DMD) have been launched recently. 27531051 2017
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy. 26670690 2016
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group BEFREE Ryanodine receptor 1 (RYR1), myosin heavy chain 7 (MYH7), and selenoprotein N1 (SEPN1) mutations are associated with core myopathies. 26799446 2016
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE What is New: • SEPN-related myopathies can remain unrecognized because of the normal early motor development and relatively benign myopathic course of the disease. 26780752 2016
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group BEFREE The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM). 25808192 2015
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE These observations reveal the involvement of SEPN1 in ER redox and calcium homeostasis and that an ERO1 inhibitor, restoring redox-dependent calcium homeostasis, may ameliorate the myopathy of SEPN1 deficiency. 25452428 2015
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE Within this context, among several disorders, four groups of diseases should systematically come to mind including the collagen VI-related myopathies, the Emery-Dreifuss muscular dystrophies, the SEPN1 and FHL1 related myopathies. 24021317 2014
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group BEFREE N-acetyl-L-cysteine has recently been described as a promising antioxidant in myopathies linked to selenoprotein N or ryanodin receptor defects. 24098483 2013
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE Despite the recent and exciting progress regarding the physiological function(s) of SelN in muscle tissue, the pathogenesis leading to SEPN1-related myopathies remains largely unknown, with several unsolved questions, and no treatment available. 22527882 2012
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group BEFREE Central Core Disease (CCD) and Multi-minicore Disease (MmD) (the "core myopathies") have been mainly associated with mutations in the skeletal muscle ryanodine receptor (RYR1) and the selenoprotein N (SEPN1) gene. 22784669 2012
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group BEFREE 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. 21670436 2011
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE 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 disease, desmin-related myopathy with Mallory body-like inclusions, and congenital fiber-type disproportion. 20937510 2011
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE Pathologically, reduced expression of selenoproteins has been directly linked with the congenital muscle disease referred to as selenoprotein N (SEPN)-related myopathy and with thyroid-hormone metabolism defects (deficiency of deiodinases due to genetic defects in SBP2). 19905883 2010
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group BEFREE 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. 19557870 2009
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group BEFREE Mutations in SEPN1 result in a spectrum of early-onset muscle disorders referred to as SEPN1-related myopathy. 19067361 2009
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group BEFREE To define the phenotype and long-term clinical course in juvenile Selenoprotein N1-related myopathies 11 juvenile patients from eight families with SEPN1 mutations were assessed over a mean period of 7.2 years. 17951086 2008
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE Our results provide an appropriate tool to orientate the differential and molecular diagnosis of core myopathies and suggest that different pathophysiological mechanisms lead to core formation in SelN- and in RyR1-related core myopathies. 17204937 2007
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group BEFREE Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). 15792869 2005
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group CLINVAR