Structure of a PKA RIα Recurrent Acrodysostosis Mutant Explains Defective cAMP-dependent Activation

Most disease related mutations that impair PKA signaling are present within the regulatory PKA RI alpha-subunit (RIα). Although mutations in the PRKAR1A gene are linked to Carney complex disease (CNC) and more recently to acrodysostosis-1 (ACRDYS1), the two diseases show contrasting phenotypes. Whil...

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Veröffentlicht in:J Mol Biol
Hauptverfasser: Bruystens, Jessica GH, Wu, Jian, Fortezzo, Audrey, Del Rio, Jason, Nielsen, Cole, Blumenthal, Donald K., Rock, Ruth, Stefan, Eduard, Taylor, Susan S.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2016
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5149412/
https://ncbi.nlm.nih.gov/pubmed/27825928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmb.2016.10.033
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