SEPN1 Blocking Peptide
- Known as:
- SEPN1 Blocking Peptide
- Catalog number:
- 33r-1411
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Fitzgerald industries international
- Gene target:
- SEPN1 Blocking Peptide
Related genes to: SEPN1 Blocking Peptide
- Gene:
- SELENON NIH gene
- Name:
- selenoprotein N
- Previous symbol:
- RSMD1, MDRS1, SEPN1
- Synonyms:
- SELN, RSS
- Chromosome:
- 1p36.11
- Locus Type:
- gene with protein product
- Date approved:
- 2001-07-11
- Date modifiied:
- 2019-04-23
Related products to: SEPN1 Blocking Peptide
Related articles to: SEPN1 Blocking Peptide
- Congenital myopathies (CMs) are a heterogeneous group of rare or ultra-rare inherited muscular disorders in which cognitive, neuropsychological and psychosocial outcomes remain poorly characterized. - Source: PubMed
Publication date: 2026/08/06
Rinella SergioAnastasio GennaroSapuppo AnnamariaBianco Manuela LoLeonardi RobertaPavone PieroRuggieri MartinoPolizzi Agata - BackgroundLAMA2-related muscular dystrophy (LAMA2-MD) and SELENON-related myopathy (SELENON-RM) are rare congenital muscle diseases characterized by slowly progressive proximal muscle weakness, spinal rigidity and respiratory insufficiency. The LAST STRONG study is a natural history study to identify suitable outcome measures and reach trial readiness for LAMA2-MD and SELENON-RM.MethodsPatients had four visits over 1.5-years. Assessments included neurological examination, hand-held dynamometry (HHD), functional assessments (Motor Function Measurements(MFM)-20/32, graded and timed function tests), accelerometry, and questionnaires on quality of life, activities and participation, pain, and fatigue.ResultsA total of 27 LAMA2-MD (21 years, range 3-50; 9 males) and 11 SELENON-RM (20 years, range 3-42; 8 males) patients were included. In LAMA2-MD, mean HHD scores for neck extensors, biceps brachii, quadriceps, foot plantar flexors and handgrip strength increased (all p < 0.02). In SELENON-RM, biceps brachii and foot plantar flexors increased (p < 0.01). In LAMA2-MD, functional assessments did not change significantly. In SELENON-RM, MFM-20/32 total score and domain 1 decreased (p < 0.05), 6-Minute Walk Test (6MWT) decreased (p < 0.01) and 10-Meter Walk Test (10MWT) increased (p < 0.01). Accelerometry showed a significant change in moderate activity in LAMA2-MD (p <0.01), no changes were observed in SELENON-RM.DiscussionOver 1.5 years, LAMA2-MD remained mostly stable, while SELENON-RM showed minimal functional decline on select outcome measures. Both cohorts showed HHD increases, likely reflecting age-related development. Most measures did not capture disease progression, however MFM-20/32, 6MWT and 10MWT showed small significant changes in SELENON-RM, suggesting potential trial endpoints. - Source: PubMed
Publication date: 2026/08/01
de Laat Elisabeth C MGroothuis Jan TBouman KarlijnHouwen-van Opstal Saskia L SErasmus Corrie EVoermans Nicol C - Variants in the SELENON gene cause a myopathy with axial weakness, scoliosis, and respiratory failure. This study aimed to characterize the temporal and spatial distribution of fat replacement across the whole body in patients with SELENON-related myopathy. - Source: PubMed
Publication date: 2026/04/13
Shimazaki RuiNoguchi SatoruYoshioka WakakoTakizawa HotakeOya YasushiTakahashi YujiSato NorikoKimura YukioHayashi ShinichiroNishino Ichizo - Congenital myopathies (CMYOs) and congenital muscular dystrophies (CMDs) are rare, clinically and genetically heterogeneous neuromuscular conditions characterized by muscle weakness, usually with onset at birth or in the first few months of life. Next-generation sequencing (NGS) has significantly enhanced diagnostic capabilities and transformed the diagnostic process for such rare conditions. The aim of this study was to describe the outcomes of NGS analysis and genotypic prevalence among patients with CMYO and CMD referred for diagnostic assessment to the National Highly Specialized Service (HSS) at the Dubowitz Neuromuscular Centre in London, United Kingdom, over a period of 10 years. - Source: PubMed
Publication date: 2026/03/12
Cicala GianpaoloMccauley JoPhadke RahulMueller JulianeRobb Stephanie AnnManzur Adnan YMunot PinkiBaranello GiovanniScoto MariacristinaTedesco Francesco SaverioMein Rachael AWalsh CherylMuntoni FrancescoSarkozy Anna - Selenoprotein N (SelN or SELENON) is a selenium-containing protein of the endoplasmic/sarcoplasmic reticulum (ER/SR), encoded by the gene. In skeletal muscle, SelN is particularly important for regulating SR calcium homeostasis. It acts as a calcium sensor, modulating the activity of the sarcoplasmic reticulum calcium pump (SERCA) through a redox-dependent mechanism. Loss-of-function mutations in the gene give rise to a spectrum of skeletal muscle disorders collectively referred to as SEPN1-related myopathies (SEPN1-RM). Histopathologically, SEPN1-RM is characterized by the presence of minicores, which are localized regions within muscle fibers exhibiting mitochondrial depletion (i.e., cores) and sarcomeric disarray. As no effective therapy is currently available for SEPN1-RM, understanding SelN biology through loss-of-function models remains essential for elucidating disease mechanisms and identifying potential therapeutic targets. This review examines the current knowledge on SelN function and the pathological mechanisms underlying loss-of-function, with a particular focus on the connection between calcium handling, oxidative/ER stress, and muscle dysfunction. It also highlights emerging strategies aimed at restoring SelN activity or mitigating downstream defects, outlining potential therapeutic avenues for SEPN1-RM. - Source: PubMed
Publication date: 2026/01/12
Lanza MartinaZito EsterDinoi GiorgiaBuono Antonio VittorioDe Luca AnnamariaImbrici PaolaLiantonio AntonellaConte Elena