Protein Kinase A in neurological disorders.
J Neurodev Disord
; 16(1): 9, 2024 Mar 13.
Article
en En
| MEDLINE
| ID: mdl-38481146
ABSTRACT
Cyclic adenosine 3', 5' monophosphate (cAMP)-dependent Protein Kinase A (PKA) is a multi-functional serine/threonine kinase that regulates a wide variety of physiological processes including gene transcription, metabolism, and synaptic plasticity. Genomic sequencing studies have identified both germline and somatic variants of the catalytic and regulatory subunits of PKA in patients with metabolic and neurodevelopmental disorders. In this review we discuss the classical cAMP/PKA signaling pathway and the disease phenotypes that result from PKA variants. This review highlights distinct isoform-specific cognitive deficits that occur in both PKA catalytic and regulatory subunits, and how tissue-specific distribution of these isoforms may contribute to neurodevelopmental disorders in comparison to more generalized endocrine dysfunction.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Quinasas Dependientes de AMP Cíclico
/
Enfermedades del Sistema Nervioso
Límite:
Humans
Idioma:
En
Revista:
J Neurodev Disord
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos