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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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| Główni autorzy: | , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Endocrine Society
2012
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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