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References

These sources were used to develop the Genetics Home Reference gene summary on the SEPN1 gene.

Arbogast S, Beuvin M, Fraysse B, Zhou H, Muntoni F, Ferreiro A. Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. Ann Neurol. 2009 Jun;65(6):677-86. doi: 10.1002/ana.21644. PubMed citation
Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol. 2006 Mar;59(3):546-52. PubMed citation
Entrez Gene
Ferreiro A, Ceuterick-de Groote C, Marks JJ, Goemans N, Schreiber G, Hanefeld F, Fardeau M, Martin JJ, Goebel HH, Richard P, Guicheney P, Bönnemann CG. Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann Neurol. 2004 May;55(5):676-86. PubMed citation
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. 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. Am J Hum Genet. 2002 Oct;71(4):739-49. Epub 2002 Aug 21. PubMed citation
Gene Review: Congenital Fiber-Type Disproportion
Gene Review: Multiminicore Disease
Jungbluth H. Multi-minicore Disease. Orphanet J Rare Dis. 2007 Jul 13;2:31. Review. PubMed citation
Lescure A, Rederstorff M, Krol A, Guicheney P, Allamand V. Selenoprotein function and muscle disease. Biochim Biophys Acta. 2009 Nov;1790(11):1569-74. doi: 10.1016/j.bbagen.2009.03.002. Epub 2009 Mar 11. Review. PubMed citation
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. Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. Neurogenetics. 2006 Jul;7(3):175-83. Epub 2006 Jun 15. PubMed citation
Petit N, Lescure A, Rederstorff M, Krol A, Moghadaszadeh B, Wewer UM, Guicheney P. Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. Hum Mol Genet. 2003 May 1;12(9):1045-53. PubMed citation
Schara U, Kress W, Bönnemann CG, Breitbach-Faller N, Korenke CG, Schreiber G, Stoetter M, Ferreiro A, von der Hagen M. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol. 2008 May;12(3):224-30. Epub 2007 Oct 22. PubMed citation
Zorzato F, Jungbluth H, Zhou H, Muntoni F, Treves S. Functional effects of mutations identified in patients with multiminicore disease. IUBMB Life. 2007 Jan;59(1):14-20. Review. PubMed citation


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