Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex

The main target of cAMP is PKA, the main regulatory subunit of which (PRKAR1A) presents mutations in two genetic disorders: acrodysostosis and Carney complex. In addition to the initial recurrent mutation (R368X) of the PRKAR1A gene, several missense and nonsense mutations have been observed recentl...

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Bibliografiske detaljer
Udgivet i:J Biol Chem
Main Authors: Rhayem, Yara, Le Stunff, Catherine, Abdel Khalek, Waed, Auzan, Colette, Bertherat, Jerome, Linglart, Agnès, Couvineau, Alain, Silve, Caroline, Clauser, Eric
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Biochemistry and Molecular Biology 2015
Fag:
Molecular Bases of Disease
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4646027/
https://ncbi.nlm.nih.gov/pubmed/26405036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M115.656553
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