We want to work together for the benefit of our families. We aim to collaborate and to foster cooperation between other foundations, research teams, and medical providers – no matter how far apart we may be, by distance or professional discipline.

We believe that the success of MASNS-related research is ultimately aided by the active participation of patients and their families, and we aim to be active contributors to this research. Below is a list of different research groups who have been collaborating to study MASNS/PRKAR1B. Researchers meet periodically to discuss recent results and future plans. Please reach out to us (contact@masnsfoundation.org) if you are a researcher looking to join these efforts!

Research groups studying MASNS

Relevant research publications about MASNS and PRKAR1B:

(sorted by publication date)

Burkart, S. et al. (2025). Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series. Clinical Genetics,1-18. https://doi.org/10.1111/cge.70094

Pool, E.H. et al. (2025). Aberrant phase separation of two PKA RIβ neurological disorder mutants leads to mechanistically distinct signaling deficits.Cell Reports, 44(6), 115797. https://doi.org/10.1016/j.celrep.2025.115797.

Benjamin-Zukerman, T. et al. (2024). Allosteric modulation of protein kinase A in individuals affected by NLPD-PKA, a neurodegenerative disease in which the PRKAR1B L50R variant is expressed. FEBS J. 2025 Apr 17. https://doi.org/10.1111/febs.70098.

Benjamin-Zukerman, T. et al. (2024). A mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species. Brain, 147(11), pp. 3890–3905. https://doi.org/10.1093/brain/awae154.

Glebov-McCloud, A.G.P. et al. (2024). Protein Kinase A in neurological disorders. Journal of Neurodevelopmental Disorders, 16(1), p. 9. https://doi.org/10.1186/s11689-024-09525-0.

Marbach, F. et al. (2022). Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome. American Journal of Medical Genetics Part A, 188(9), pp. 2627–2636. https://doi.org/10.1002/ajmg.a.62884.

Marbach, F. et al. (2021). Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Genetics in Medicine, 23(8), pp. 1465–1473. https://doi.org/10.1038/s41436-021-01152-7.
*This is the first paper describing MASNS as a discrete disorder.

Drougat, L. et al. (2021). Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome. Genetics in Medicine, 23(1), pp. 174–182. https://doi.org/10.1038/s41436-020-00958-1.

Hoang Trung, H. et al. (2021). Deficiency of the RIβ subunit of protein kinase A causes body tremor and impaired fear conditioning memory in rats. Scientific Reports, 11(1), p. 2039. https://doi.org/10.1038/s41598-021-81515-x.

Wong, T.H. et al. (2014). PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology. Brain, 137(5), pp. 1361–1373. https://doi.org/10.1093/brain/awu067.

Ilouz, R. et al. (2012). Localization and quaternary structure of the PKA RIβ holoenzyme. Proceedings of the National Academy of Sciences, 109(31), pp. 12443–12448. https://doi.org/10.1073/pnas.1209538109.

Taylor, S.S. et al. (2012). Assembly of allosteric macromolecular switches: lessons from PKA. Nature Reviews Molecular Cell Biology, 13(10), pp. 646–658. https://doi.org/10.1038/nrm3432.

Elphinstone, M.S. et al. (2004). Genomic structure of the human gene for protein kinase A regulatory subunit R1‐beta (PRKAR1B) on 7p22: no evidence for mutations in familial hyperaldosteronism type II in a large affected kindred. Clinical Endocrinology, 61(6), pp. 716–723. https://doi.org/10.1111/j.1365-2265.2004.02155.x.