Associated Papers
Functional divergence of protein kinase A regulatory subunit Iβ variants: the importance of N3A motifs in PKA regulation.
Wallbott M et al.
The Febs Journal, 2025
N3A motifs in RIβ mediate allosteric crosstalk between cAMP and ATP in PKA activation.
Wu J et al.
Protein Science : a Publication of the Protein Society, 2025
Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series.
Burkart S et al.
Clinical Genetics, 2025
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
Aberrant phase separation of two PKA RIβ neurological disorder mutants leads to mechanistically distinct signaling deficits.
Pool EH et al.
Cell Reports, 2025
A mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species.
Benjamin-Zukerman T et al.
Brain : a Journal of Neurology, 2024
Protein Kinase A in neurological disorders.
Glebov-McCloud AGP et al.
Journal of Neurodevelopmental Disorders, 2024
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
PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease.
Pottier C et al.
Brain : a Journal of Neurology, 2015
PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
Wong TH et al.
Brain : a Journal of Neurology, 2014
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