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

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. ME...

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Autores principales: Patronas, Yianna, Horvath, Anelia, Greene, Elizabeth, Tsang, Kitman, Bimpaki, Eirini, Haran, Michelle, Nesterova, Maria, Stratakis, Constantine A.
Formato: Artigo
Lenguaje:Inglês
Publicado: Endocrine Society 2012
Materias:
JCEM Online: Advances in Genetics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3319211/
https://ncbi.nlm.nih.gov/pubmed/22205709
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2011-2220
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