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Article

Recurrent Acrodysostosis-Related PKA RIα Mutant Reveals a Novel Mechanism of Aberrant PKA Deactivation.

Journal of molecular biology - 1 Dec 2025

Della Libera Leonardo, Martinez Pomier Karla, Akimoto Madoka, Anand Ganesh S, Taylor Susan S, Melacini Giuseppe

Abstract excerpt

Protein kinase A (PKA) is essential in converting extracellular signals into tightly regulated cellular responses controlling vital processes such as growth, development, and gene expression. Activation of PKA is controlled by the binding of cAMP to the regulatory subunit of PKA (R). Several mutations in the ubiquitous RIα isoform of R cause Acrodysostosis 1 (ACRO), a disease characterized by resistance to...

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Identifiers

PMID: 40789540
DOI: 10.1016/j.jmb.2025.169381
PMCID: PMC12851291

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