Article
Differences in adiposity in Cushing syndrome caused by PRKAR1A mutations: clues for the role of cyclic AMP signaling in obesity and diagnostic implications.
The Journal of clinical endocrinology and metabolism - 1 Feb 2014
London Edra, Rothenbuhler Anya, Lodish Maya, Gourgari Evgenia, Keil Meg, Lyssikatos Charalampos, de la Luz Sierra Maria, Patronas Nicolas, Nesterova Maria, Stratakis Constantine A
Abstract excerpt
CONTEXT: The cAMP signaling pathway is implicated in bilateral adrenocortical hyperplasias. Bilateral adrenocortical hyperplasia is often associated with ACTH-independent Cushing syndrome (CS) and may be caused by mutations in genes such as PRKAR1A, which is responsible for primary pigmented nodular adrenocortical disease (PPNAD). PRKAR1A regulates cAMP-dependent protein kinase (PKA), an essential enzyme in the...
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