Article
PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal disease.
JCI insight - 22 Sept 2016
Bram Zakariae, Louiset Estelle, Ragazzon Bruno, Renouf Sylvie, Wils Julien, Duparc Céline, Boutelet Isabelle, Rizk-Rabin Marthe, Libé Rossella, Young Jacques, Carson Dennis, Vantyghem Marie-Christine, Szarek Eva, Martinez Antoine, Stratakis Constantine A, Bertherat Jérôme, Lefebvre Hervé
Abstract excerpt
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent hypercortisolism. The disease is primarily caused by germline mutations of the protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene, which induces constitutive activation of PKA in adrenocortical cells. Hypercortisolism is thought to result from PKA hyperactivity, but PPNAD tissues exhibit features of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.