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Article

Acrodysostosis type 1: mechanisms explaining PRKAR1A mutation mediated dysregulation of cAMP-PKA signalling.

Cell communication and signaling : CCS - 8 May 2026

Moxom Harry, Kimber Susan J

Abstract excerpt

Acrodysostosis type 1 (ACRDYS1) is a rare multisystem developmental disorder affecting skeletal growth, endocrine function, neurodevelopment, metabolism, and tooth formation. It is caused by heterozygous mutations in PRKAR1A, which encodes the type Iα regulatory subunit (RIα) of protein kinase A (PKA), a central mediator of cyclic AMP (cAMP)-dependent signalling. Although ACRDYS1 belongs to the broader family of...

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PMID: 42104421
DOI: 10.1186/s12964-026-02890-4
PMCID: PMC13326385

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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