Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
|
30932294 |
2019 |
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 |
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 |
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 |
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 |
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 |
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.
|
26670690 |
2016 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).
|
15792869 |
2005 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Myopathy
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
|
|
|