Associated Papers
Allosteric modulation of protein kinase A in individuals affected by NLPD-PKA, a neurodegenerative disease in which the PRKAR1B L50R variant is expressed.
Benjamin-Zukerman T et al.
The Febs Journal, 2025
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.
Marbach F et al.
American Journal of Medical Genetics. Part A, 2022
Molecular Mechanisms of Functional Adrenocortical Adenoma and Carcinoma: Genetic Characterization and Intracellular Signaling Pathway.
Shimada H et al.
Biomedicines, 2021
Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome.
Drougat L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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