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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. Schoenmakers E, et al. Among authors: castets p. J Clin Invest. 2010 Dec;120(12):4220-35. doi: 10.1172/JCI43653. Epub 2010 Nov 15. J Clin Invest. 2010. PMID: 21084748 Free PMC article.
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. Castets P, et al. Among authors: castets m. Hum Mol Genet. 2011 Feb 15;20(4):694-704. doi: 10.1093/hmg/ddq515. Epub 2010 Dec 2. Hum Mol Genet. 2011. PMID: 21131290
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. Rederstorff M, et al. Among authors: castets p. PLoS One. 2011;6(8):e23094. doi: 10.1371/journal.pone.0023094. Epub 2011 Aug 8. PLoS One. 2011. PMID: 21858002 Free PMC article.
mTOR controls embryonic and adult myogenesis via mTORC1.
Rion N, Castets P, Lin S, Enderle L, Reinhard JR, Eickhorst C, Rüegg MA. Rion N, et al. Among authors: castets p. Development. 2019 Apr 8;146(7):dev172460. doi: 10.1242/dev.172460. Development. 2019. PMID: 30872276
35 results