Article
Selenoprotein-related disease in a young girl caused by nonsense mutations in the SBP2 gene.
The Journal of clinical endocrinology and metabolism - 1 Aug 2010
Azevedo Monalisa Ferreira, Barra Gustavo Barcelos, Naves Luciana Ansaneli, Ribeiro Velasco Lara Franciele, Godoy Garcia Castro Patrícia, de Castro Luiz Claudio Gonçalves, Amato Angélica Amorim, Miniard Angela, Driscoll Donna, Schomburg Lutz, de Assis Rocha Neves Francisco
Abstract excerpt
CONTEXT: Selenoproteins are essential for life, and their biosynthesis requires the incorporation of the rare amino acid selenocysteine (Sec) in a process mediated by the Sec insertion sequence-binding protein 2 (SBP2). Although SBP2 is considered a rate-limiting factor mediating Sec incorporation, there has been little evidence so far linking SBP2 dysfunction to widespread selenoprotein-related disease....
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