Article
In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex.
The Journal of clinical endocrinology and metabolism - 1 Mar 2012
Patronas Yianna, Horvath Anelia, Greene Elizabeth, Tsang Kitman, Bimpaki Eirini, Haran Michelle, Nesterova Maria, Stratakis Constantine A
Abstract excerpt
BACKGROUND: Carney complex (CNC) is a multiple endocrine neoplasia syndrome due to inactivating mutations in the PRKAR1A gene that codes for type Iα regulatory (RIα) subunit of protein kinase A. Most PRKAR1A mutations are subject to nonsense mRNA decay (NMD) and, thus, lead to haploinsufficiency. METHODS AND SETTING: Patient phenotyping for CNC features and DNA, RNA, protein, and transfection studies were carried...
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