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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Detalles Bibliográficos
Publicado en:J Biol Chem
Autores principales: Rhayem, Yara, Le Stunff, Catherine, Abdel Khalek, Waed, Auzan, Colette, Bertherat, Jerome, Linglart, Agnès, Couvineau, Alain, Silve, Caroline, Clauser, Eric
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Biochemistry and Molecular Biology 2015
Materias:
Molecular Bases of Disease
Acceso en línea: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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