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Article

Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 2017

Le Stunff Catherine, Tilotta Francoise, Sadoine Jérémy, Le Denmat Dominique, Briet Claire, Motte Emmanuelle, Clauser Eric, Bougnères Pierre, Chaussain Catherine, Silve Caroline

Abstract excerpt

In humans, activating mutations in the PRKAR1A gene cause acrodysostosis 1 (ACRDYS1). These mutations result in a reduction in PKA activation caused by an impaired ability of cAMP to dissociate mutant PRKAR1A from catalytic PKA subunits. Two striking features of this rare developmental disease are renal resistance to PTH and chondrodysplasia resulting from the constitutive inhibition of PTHR1/Gsa/AC/cAMP/PKA...

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Source

Identifiers

PMID: 27589370
DOI: 10.1002/jbmr.2987

Genes

PTH
PCNA
PRKACA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis.PMID 27589370Read ↗

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