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

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

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.

Affiliation

Schoenmakers E; Institute of Metabolic Science, University of Cambridge, Cambridge, UK.

J Clin Invest ; 120(12): 4220-35, 2010 Dec.

Article in En | MEDLINE | ID: mdl-21084748

Subject(s)

Mutation; RNA-Binding Proteins/genetics; Selenoproteins/deficiency; Adult; Aged; Amino Acid Sequence; Animals; Azoospermia/genetics; Base Sequence; Child; Child, Preschool; Codon, Nonsense; DNA/genetics; Female; Hearing Loss, Sensorineural/genetics; Humans; Insulin Resistance/genetics; Male; Mice; Middle Aged; Models, Molecular; Molecular Sequence Data; Muscular Dystrophies/genetics; Mutation, Missense; Pedigree; Photosensitivity Disorders/genetics; RNA-Binding Proteins/chemistry; RNA-Binding Proteins/metabolism; Reactive Oxygen Species/metabolism; Selenocysteine/metabolism; Selenoproteins/metabolism; Sequence Homology, Amino Acid; Spermatogenesis/genetics; T-Lymphocytes/immunology

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Full text: 1 Database: MEDLINE Main subject: RNA-Binding Proteins / Selenoproteins / Mutation Type of study: Prognostic_studies Language: En Year: 2010 Type: Article

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Full text: 1 Database: MEDLINE Main subject: RNA-Binding Proteins / Selenoproteins / Mutation Type of study: Prognostic_studies Language: En Year: 2010 Type: Article