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Selenoprotein N, 1

SEPN1, selenoprotein N, SelN
This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Mutations in this gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Ethanolaminephosphotransferase, CAN, HAD, ACID, TM3
Papers on SEPN1
SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.
New
Moroni et al., Milano, Italy. In Eur J Pediatr, Feb 2016
UNASSIGNED: 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 congenital myopathy pattern with myofibrillar disorganization.
Effect of Inorganic Dietary Selenium Supplementation on Selenoprotein and Lipid Metabolism Gene Expression Patterns in Liver and Loin Muscle of Growing Lambs.
New
Pierzchała et al., Poland. In Biol Trace Elem Res, Jan 2016
Significant differences 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.
Pediatric laminopathies: Whole-body MRI fingerprint and comparison with SEPN1-myopathy.
New
Quijano-Roy et al., Madrid, Spain. In Muscle Nerve, Jan 2016
INTRODUCTION: We sought to define the whole-body MRI (WB-MRI) fingerprint of muscle involvement in pediatric LMNA-related dystrophy (LMNA-RD) and to compare it with SEPN1-related myopathy (SEPN1-RM).
Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.
New
Nothnagel et al., Köln, Germany. In Plos One, Dec 2015
Linkage analysis and homozygosity mapping yielded elusive results when assuming a single RD, but whole-exome sequencing helped to identify two mutations in two genes, namely SLC34A3 and SEPN1, that segregated independently in this family and that have previously been linked to two etiologically different diseases.
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.
New
Quijano-Roy et al., Paris, France. In Muscle Nerve, Nov 2015
INTRODUCTION: 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).
Selenoproteins protect against avian nutritional muscular dystrophy by metabolizing peroxides and regulating redox/apoptotic signaling.
New
Lei et al., Beijing, China. In Free Radic Biol Med, Jun 2015
The -Se chicks also had decreased (P < 0.05) 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. Dietary Se deficiency elevated (P < 0.05) muscle p53, cleaved caspase 3, cleaved caspase 9, cyclooxygenase 2 (COX2), focal adhesion kinase (FAK), phosphatidylinositol 3-kinase (PI3K), phospho-Akt, nuclear factor-κB (NF-κB), p38 mitogen-activated protein kinase (p38 MAPK), phospho-p38 MAPK, phospho-JNK, and phospho-ERK and decreased (P < 0.05) muscle procaspase 3, procaspase 9, and NF-κB inhibitor α.
Whole exome sequencing of suspected mitochondrial patients in clinical practice.
New
Rodenburg et al., Nijmegen, Netherlands. In J Inherit Metab Dis, May 2015
SEPN1, ACTA1) and genetic syndrome (e.g.
SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activity.
New
Zito et al., Milano, Italy. In Hum Mol Genet, May 2015
Selenoprotein N (SEPN1) is a broadly expressed resident protein of the endoplasmic reticulum (ER) whose loss-of-function inexplicably leads to human muscle disease.
Prevalence of congenital muscular dystrophy in Italy: a population study.
New
Mercuri et al., Padova, Italy. In Neurology, Apr 2015
The forms of congenital muscular dystrophy related to mutations in SEPN1 and LMNA were less frequent (6.25% and 5.95%, respectively).
The neuromuscular differential diagnosis of joint hypermobility.
Review
New
Voermans et al., In Am J Med Genet C Semin Med Genet, Mar 2015
In this review we will summarize the measures of joint hypermobility, illustrate molecular mechanisms these groups of disorders have in common, and subsequently discuss the clinical features of: 1) the most common connective tissue disorders with myopathic or other neuromuscular features: Ehlers-Danlos syndrome, Marfan syndrome and Loeys-Dietz syndrome; 2) myopathy and connective tissue overlap disorders (muscle extracellular matrix (ECM) disorders), including collagen VI related dystrophies and FKBP14 related kyphoscoliotic type of Ehlers-Danlos syndrome; and 3) various (congenital) myopathies with prominent joint hypermobility including RYR1- and SEPN1-related myopathy.
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.
Review
MacKenzie et al., Kingston, Canada. In Pediatr Neurol, 2014
Molecular genetic testing was performed for NEB, TPM2, TPM3, ACTA1, TNNT1, SEPN1, SMN1, DMPK, FSHMD1A, and mtDNA.
Intersection of selenoproteins and kinase signalling.
Review
Pawłowski et al., Warsaw, Poland. In Biochim Biophys Acta, 2013
Focusing on selenoproteins of unknown structures, we predict a thioredoxin-like fold for the Selenoprotein N (SelN) family and use the structure to rationalise effects of the muscular myopathy-linked mutations in the gene coding SelN.
Selenoprotein N in skeletal muscle: from diseases to function.
Review
Allamand et al., Basel, Switzerland. In J Mol Med (berl), 2012
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 muscles and leading to spine rigidity, severe scoliosis, and respiratory insufficiency.
Core myopathies.
Review
Muntoni et al., London, United Kingdom. In Semin Pediatr Neurol, 2011
Mutations in the selenoprotein N (SEPN1) gene cause a less common variant.
SEPN1-related myopathies: clinical course in a large cohort of patients.
GeneRIF
Muntoni et al., London, United Kingdom. In Neurology, 2011
Data show that the spectrum of severity of SEPN1-related myopathiesis wider than previously reported.
Nuclear Argonaute 2 regulates adipose tissue-derived stem cell survival through direct control of miR10b and selenoprotein N1 expression.
GeneRIF
Kang et al., Seoul, South Korea. In Aging Cell, 2011
Data show that Argonaute 2 expression is critical for stem cells to escape senescence by downregulating miR10b and miR23b, and that selenoprotein N1 is also involved in ATSC survival and self-renewal through ROS-mediated p38 MAPK inactivation.
New molecular findings in congenital myopathies due to selenoprotein N gene mutations.
GeneRIF
Comi et al., Lecco, Italy. In J Neurol Sci, 2011
this series of patients illustrates the clinical, histopathological and MRI findings of SEPN1-related myopathy. It also adds new mutations to the limited number of fully described pathogenic SEPN1 variants.
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.
GeneRIF
Ferreiro et al., Paris, France. In Ann Neurol, 2009
SelN plays a key role in redox homeostasis and human cell protection against oxidative stress.
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
GeneRIF
Howard et al., Salt Lake City, United States. In Hum Mutat, 2009
Data highlights the importance of the SRE element during SelN expression and illustrates a novel molecular mechanism by which point mutations may lead to SEPN1-related myopathy.
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Impact
Guicheney et al., Paris, France. In Nat Genet, 2001
Here we refine the locus and find evidence of linkage disequilibrium associated with SEPN1, which encodes the recently described selenoprotein N (ref.
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