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Selenoprotein N deficiency in mice is associated with abnormal lung development.

Moghadaszadeh B, Rider BE, Lawlor MW, Childers MK, Grange RW, Gupta K, Boukedes SS, Owen CA, Beggs AH.

FASEB J. 2013 Apr;27(4):1585-99. doi: 10.1096/fj.12-212688. Epub 2013 Jan 16.


Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy.

Rederstorff M, Castets P, Arbogast S, Lainé J, Vassilopoulos S, Beuvin M, Dubourg O, Vignaud A, Ferry A, Krol A, Allamand V, Guicheney P, Ferreiro A, Lescure A.

PLoS One. 2011;6(8):e23094. doi: 10.1371/journal.pone.0023094. Epub 2011 Aug 8.


Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.

Arbogast S, Beuvin M, Fraysse B, Zhou H, Muntoni F, Ferreiro A.

Ann Neurol. 2009 Jun;65(6):677-86. doi: 10.1002/ana.21644.


Selenoprotein N in skeletal muscle: from diseases to function.

Castets P, Lescure A, Guicheney P, Allamand V.

J Mol Med (Berl). 2012 Oct;90(10):1095-107. doi: 10.1007/s00109-012-0896-x. Epub 2012 Apr 14. Review.


Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors.

Castets P, Maugenre S, Gartioux C, Rederstorff M, Krol A, Lescure A, Tajbakhsh S, Allamand V, Guicheney P.

BMC Dev Biol. 2009 Aug 22;9:46. doi: 10.1186/1471-213X-9-46.


Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.

Castets P, Bertrand AT, Beuvin M, Ferry A, Le Grand F, Castets M, Chazot G, Rederstorff M, Krol A, Lescure A, Romero NB, Guicheney P, Allamand V.

Hum Mol Genet. 2011 Feb 15;20(4):694-704. doi: 10.1093/hmg/ddq515. Epub 2010 Dec 2.


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.

Hum Mutat. 2009 Mar;30(3):411-6. doi: 10.1002/humu.20879.


Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N 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.

Ann Neurol. 2004 May;55(5):676-86.


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.

Proc Natl Acad Sci U S A. 2008 Aug 26;105(34):12485-90. doi: 10.1073/pnas.0806015105. Epub 2008 Aug 19.


Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).

Tajsharghi H, Darin N, Tulinius M, Oldfors A.

Neuromuscul Disord. 2005 Apr;15(4):299-302. Epub 2005 Jan 28.


Gene expression of endoplasmic reticulum resident selenoproteins correlates with apoptosis in various muscles of se-deficient chicks.

Yao HD, Wu Q, Zhang ZW, Zhang JL, Li S, Huang JQ, Ren FZ, Xu SW, Wang XL, Lei XG.

J Nutr. 2013 May;143(5):613-9. doi: 10.3945/jn.112.172395. Epub 2013 Mar 20.


Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Müller C, Muntoni F.

Neurology. 2005 Dec 27;65(12):1930-5.


Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis.

Arbogast S, Ferreiro A.

Antioxid Redox Signal. 2010 Apr 1;12(7):893-904. doi: 10.1089/ars.2009.2890. Review.


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.

Neurogenetics. 2006 Jul;7(3):175-83. Epub 2006 Jun 15.


Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern.

Petit N, Lescure A, Rederstorff M, Krol A, Moghadaszadeh B, Wewer UM, Guicheney P.

Hum Mol Genet. 2003 May 1;12(9):1045-53.


Functional effects of mutations identified in patients with multiminicore disease.

Zorzato F, Jungbluth H, Zhou H, Muntoni F, Treves S.

IUBMB Life. 2007 Jan;59(1):14-20. Review.


Selenoprotein function and muscle disease.

Lescure A, Rederstorff M, Krol A, Guicheney P, Allamand V.

Biochim Biophys Acta. 2009 Nov;1790(11):1569-74. doi: 10.1016/j.bbagen.2009.03.002. Epub 2009 Mar 11. Review.


Multi-minicore Disease.

Jungbluth H.

Orphanet J Rare Dis. 2007 Jul 13;2:31. Review.


Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.

Herasse M, Parain K, Marty I, Monnier N, Kaindl AM, Leroy JP, Richard P, Lunardi J, Romero NB, Ferreiro A.

J Neuropathol Exp Neurol. 2007 Jan;66(1):57-65.


Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.

Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K.

J Clin Invest. 2010 Dec;120(12):4220-35. doi: 10.1172/JCI43653. Epub 2010 Nov 15.

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