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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2015
Assuntos:
Molecular Bases of Disease
Acesso em linha: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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