| Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series. | Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.
Bouman K, van den Heuvel FMA, Evertz R, Boesaard E, Groothuis JT, van Engelen BGM, Nijveldt R, Erasmus CE, Udink Ten Cate FEA, Voermans NC., Free PMC Article | 10/28/2024 |
| Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy. | Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy.
Filipe A, Chernorudskiy A, Arbogast S, Varone E, Villar-Quiles RN, Pozzer D, Moulin M, Fumagalli S, Cabet E, Dudhal S, De Simoni MG, Denis R, Vadrot N, Dill C, Giovarelli M, Szweda L, De Palma C, Pinton P, Giorgi C, Viscomi C, Clementi E, Missiroli S, Boncompagni S, Zito E, Ferreiro A., Free PMC Article | 12/25/2021 |
| Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials. | Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.
Silwal A, Sarkozy A, Scoto M, Ridout D, Schmidt A, Laverty A, Henriques M, D'Argenzio L, Main M, Mein R, Manzur AY, Abel F, Al-Ghamdi F, Genetti CA, Ardicli D, Haliloglu G, Topaloglu H, Beggs AH, Muntoni F., Free PMC Article | 09/25/2021 |
| [Selenoprotein-related myopathy in a patient with old-age-onset type 2 respiratory failure: a case report]. | [Selenoprotein-related myopathy in a patient with old-age-onset type 2 respiratory failure: a case report].
Iwafuchi Y, Umeda M, Yamada Y, Ogasawara M, Nishino I, Fujita N. | 09/25/2021 |
| The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes. | The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.
Mohamadian M, Naseri M, Ghandil P, Bahrami A, Momen AA. | 09/4/2021 |
| The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series. | The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A., Free PMC Article | 11/21/2020 |
| Selenoprotein N is an endoplasmic reticulum calcium sensor that links luminal calcium levels to a redox activity. | Selenoprotein N is an endoplasmic reticulum calcium sensor that links luminal calcium levels to a redox activity.
Chernorudskiy A, Varone E, Colombo SF, Fumagalli S, Cagnotto A, Cattaneo A, Briens M, Baltzinger M, Kuhn L, Bachi A, Berardi A, Salmona M, Musco G, Borgese N, Lescure A, Zito E., Free PMC Article | 10/24/2020 |
| significantly down-regulated in mesangial cells exposed to high glucose or TGF-beta1 | High glucose and TGF-β1 reduce expression of endoplasmic reticulum-resident selenoprotein S and selenoprotein N in human mesangial cells.
Huang F, Guo Y, Wang L, Jing L, Chen Z, Lu S, Fu R, Tian L., Free PMC Article | 05/9/2020 |
| Case Report: rigid spine muscular dystrophy 1 in a compound heterozygote with two novel mutations in SEPN1 gene; a novel missense mutation (c.1384T>C; p.Sec462Arg) and a novel nonsense mutation (c.1525C>T; p.Gln509Ter), inherited from his father and mother respectively. | Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1.
Dai Y, Liang S, Huang Y, Chen L, Banerjee S., Free PMC Article | 02/24/2018 |
| We report two previously undescribed mutations in SEPN1. Our study adds two novel homozygous mutations to the number of reported pathogenic SEPN1 variants. | SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.
Ardissone A, Bragato C, Blasevich F, Maccagnano E, Salerno F, Gandioli C, Morandi L, Mora M, Moroni I. | 08/5/2017 |
| The physiological function of SelN in muscle tissue and the pathogenesis leading to SEPN1-related myopathies. [Review] | Selenoprotein N in skeletal muscle: from diseases to function.
Castets P, Lescure A, Guicheney P, Allamand V. | 01/26/2013 |
| Data show that the spectrum of severity of SEPN1-related myopathiesis wider than previously reported. | SEPN1-related myopathies: clinical course in a large cohort of patients.
Scoto M, Cirak S, Mein R, Feng L, Manzur AY, Robb S, Childs AM, Quinlivan RM, Roper H, Jones DH, Longman C, Chow G, Pane M, Main M, Hanna MG, Bushby K, Sewry C, Abbs S, Mercuri E, Muntoni F. | 08/27/2011 |
| 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. | Nuclear Argonaute 2 regulates adipose tissue-derived stem cell survival through direct control of miR10b and selenoprotein N1 expression.
Kim BS, Jung JS, Jang JH, Kang KS, Kang SK. | 07/9/2011 |
| 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. | New molecular findings in congenital myopathies due to selenoprotein N gene mutations.
Cagliani R, Fruguglietti ME, Berardinelli A, D'Angelo MG, Prelle A, Riva S, Napoli L, Gorni K, Orcesi S, Lamperti C, Pichiecchio A, Signaroldi E, Tupler R, Magri F, Govoni A, Corti S, Bresolin N, Moggio M, Comi GP. | 04/23/2011 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
Casabonne D, Reina O, Benavente Y, Becker N, Maynadié M, Foretová L, Cocco P, González-Neira A, Nieters A, Boffetta P, Middeldorp JM, de Sanjose S., Free PMC Article | 12/5/2010 |
| The Alu-derived exon 3 of human SEPN1 acquired its muscle-specific splicing activity after the divergence of humans and chimpanzees, suggesting its potential role in human evolution. | Diverse splicing patterns of exonized Alu elements in human tissues.
Lin L, Shen S, Tye A, Cai JJ, Jiang P, Davidson BL, Xing Y., Free PMC Article | 09/16/2009 |
| SelN plays a key role in redox homeostasis and human cell protection against oxidative stress. | Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.
Arbogast S, Beuvin M, Fraysse B, Zhou H, Muntoni F, Ferreiro A. | 01/21/2010 |
| 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. | A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
Maiti B, Arbogast S, Allamand V, Moyle MW, Anderson CB, Richard P, Guicheney P, Ferreiro A, Flanigan KM, Howard MT., Free PMC Article | 01/21/2010 |
| SEPN1 and RYR1 are required for the same cellular differentiation events and are needed for normal calcium fluxes | Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.
Jurynec MJ, Xia R, Mackrill JJ, Gunther D, Crawford T, Flanigan KM, Abramson JJ, Howard MT, Grunwald DJ., Free PMC Article | 01/21/2010 |
| A new SEPN1 point mutation, 943g->A causing G315S was found in a rigid spine muscular dystrophy patient with cor pulmonale. | Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.
Venance SL, Koopman WJ, Miskie BA, Hegele RA, Hahn AF. | 01/21/2010 |
| SEPN1 is the second genetic cause of CFTD and the first cause of autosomal recessive CFTD to be identified to our knowledge. CFTD is the fourth clinicopathological presentation that can be associated with mutations in SEPN1. | SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN. | 01/21/2010 |
| We report on the possible molecular mechanism behind these mutations in SEPN1. Our study clarifies molecular mechanisms of this muscular disorder. | Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.
Okamoto Y, Takashima H, Higuchi I, Matsuyama W, Suehara M, Nishihira Y, Hashiguchi A, Hirano R, Ng AR, Nakagawa M, Izumo S, Osame M, Arimura K. | 01/21/2010 |
| Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease | 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.
Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P., Free PMC Article | 01/21/2010 |
| SEPN1 mutation analysis revealed that the patient was a compound heterozygote: a previously described insertion (713-714 insA), and a novel nonsense mutation (R439stop). | Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).
Tajsharghi H, Darin N, Tulinius M, Oldfors A. | 01/21/2010 |
| Two patients with 'Dropped head syndrome' due to mutations in SEPN1 genes. | Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
D'Amico A, Haliloglu G, Richard P, Talim B, Maugenre S, Ferreiro A, Guicheney P, Menditto I, Benedetti S, Bertini E, Bonne G, Topaloglu H. | 01/21/2010 |