Classification of Cushing's syndrome PKAc mutants based upon their ability to bind PKI

MH Omar, M Kihiu, DP Byrne, KS Lee… - Biochemical …, 2023 - portlandpress.com
Cushing's syndrome is an endocrine disorder caused by excess production of the stress
hormone cortisol. Precision medicine strategies have identified single allele mutations within …

[HTML][HTML] Mislocalization of protein kinase A drives pathology in Cushing's syndrome

MH Omar, DP Byrne, KN Jones, TM Lakey, KB Collins… - Cell reports, 2022 - cell.com
Mutations in the catalytic subunit of protein kinase A (PKAc) drive the stress hormone
disorder adrenal Cushing's syndrome. We define mechanisms of action for the PKAc-L205R …

Alterations in protein kinase a substrate specificity as a potential cause of cushing syndrome

K Bathon, I Weigand, JT Vanselow, CL Ronchi… - …, 2019 - academic.oup.com
Cushing syndrome is a severe endocrine disorder of cortisol excess associated with major
metabolic and cardiovascular sequelae. We recently identified somatic mutations in …

Discovery of a Cushing's syndrome protein kinase A mutant that biases signaling through type I AKAPs

MH Omar, DP Byrne, S Shrestha, TM Lakey, KS Lee… - Science …, 2024 - science.org
Adrenal Cushing's syndrome is a disease of cortisol hypersecretion often caused by
mutations in protein kinase A catalytic subunit (PKAc). Using a personalized medicine …

Is disrupted nucleotide-Substrate cooperativity a common trait for Cushing's syndrome driving mutations of protein kinase A?

C Walker, Y Wang, C Olivieri, VS Manu, J Gao… - Journal of molecular …, 2021 - Elsevier
Somatic mutations in the PRKACA gene encoding the catalytic α subunit of protein kinase A
(PKA-C) are responsible for cortisol-producing adrenocortical adenomas. These benign …

Novel somatic mutations in the catalytic subunit of the protein kinase A as a cause of adrenal Cushing's syndrome: a European multicentric study

G Di Dalmazi, C Kisker, D Calebiro… - The Journal of …, 2014 - academic.oup.com
Context: Somatic mutations in PRKACA gene, encoding the catalytic subunit of protein
kinase A (PKA), have been recently found in a high proportion of sporadic adenomas …

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome

F Beuschlein, M Fassnacht, G Assié… - … England Journal of …, 2014 - Mass Medical Soc
Background Corticotropin-independent Cushing's syndrome is caused by tumors or
hyperplasia of the adrenal cortex. The molecular pathogenesis of cortisol-producing adrenal …

Mechanisms of aberrant PKA activation by Cα subunit mutations

D Calebiro, K Bathon, I Weigand - Hormone and Metabolic …, 2017 - thieme-connect.com
Somatic mutations in PRKACA, coding for the catalytic α subunit of protein kinase A (PKA),
have been recently identified as the most frequent genetic alteration in cortisol-secreting …

Cushing's syndrome driver mutation disrupts protein kinase A allosteric network, altering both regulation and substrate specificity

C Walker, Y Wang, C Olivieri, A Karamafrooz… - Science …, 2019 - science.org
Genetic alterations in the PRKACA gene coding for the catalytic α subunit of the cAMP-
dependent protein kinase A (PKA-C) are linked to cortisol-secreting adrenocortical …

Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome

Y Sato, S Maekawa, R Ishii, M Sanada, T Morikawa… - Science, 2014 - science.org
Cushing's syndrome is caused by excess cortisol production from the adrenocortical gland.
In corticotropin-independent Cushing's syndrome, the excess cortisol production is primarily …