Ontology highlight
ABSTRACT:
SUBMITTER: Espiard S
PROVIDER: S-EPMC5931119 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Espiard Stéphanie S Knape Matthias J MJ Bathon Kerstin K Assié Guillaume G Rizk-Rabin Marthe M Faillot Simon S Luscap-Rondof Windy W Abid Daniel D Guignat Laurence L Calebiro Davide D Herberg Friedrich W FW Stratakis Constantine A CA Bertherat Jérôme J
JCI insight 20180419 8
Mutations in the gene encoding the protein kinase A (PKA) catalytic subunit α have been found to be responsible for cortisol-producing adenomas (CPAs). In this study, we identified by whole-exome sequencing the somatic mutation p.S54L in the PRKACB gene, encoding the catalytic subunit β (Cβ) of PKA, in a CPA from a patient with severe Cushing syndrome. Bioluminescence resonance energy transfer and surface plasmon resonance assays revealed that the mutation hampers formation of type I holoenzymes ...[more]