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

Schoenmakers, Erik, Agostini, Maura, Mitchell, Catherine et al. (2010). Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans . 120(12), 4220-4235. 10.1172/JCI43653



cited authors

  • 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

fiu authors

publication date

  • December 1, 2010

keywords

  • EXPRESSION
  • HEARING-LOSS
  • Life Sciences & Biomedicine
  • MICE
  • MUSCULAR-DYSTROPHY
  • Medicine, Research & Experimental
  • OXIDATIVE STRESS
  • Research & Experimental Medicine
  • SBP2
  • SELENIUM SUPPLEMENTATION
  • SULFOXIDE-REDUCTASE
  • Science & Technology
  • THIOREDOXIN
  • TRANSLATION

Digital Object Identifier (DOI)

start page

  • 4220

end page

  • 4235

volume

  • 120

issue

  • 12