Article
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
The Journal of clinical investigation - 1 Dec 2010
Schoenmakers Erik, Agostini Maura, Mitchell Catherine, Schoenmakers Nadia, Papp Laura, Rajanayagam Odelia, Padidela Raja, Ceron-Gutierrez Lourdes, Doffinger Rainer, Prevosto Claudia, Luan Jian'an, Montano Sergio, Lu Jun, Castanet Mireille, Clemons Nick, Groeneveld Matthijs, Castets Perrine, Karbaschi Mahsa, Aitken Sri, Dixon Adrian, Williams Jane, Campi Irene, Blount Margaret, Burton Hannah, Muntoni Francesco, O'Donovan Dominic, Dean Andrew, Warren Anne, Brierley Charlotte, Baguley David, Guicheney Pascale, Fitzgerald Rebecca, Coles Alasdair, Gaston Hill, Todd Pamela, Holmgren Arne, Khanna Kum Kum, Cooke Marcus, Semple Robert, Halsall David, Wareham Nicholas, Schwabe John, Grasso Lucia, Beck-Peccoz Paolo, Ogunko Arthur, Dattani Mehul, Gurnell Mark, Chatterjee Krishna
Abstract excerpt
Selenium, a trace element that is fundamental to human health, is incorporated into some proteins as selenocysteine (Sec), generating a family of selenoproteins. Sec incorporation is mediated by a multiprotein complex that includes Sec insertion sequence-binding protein 2 (SECISBP2; also known as...
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