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- Title
Functional characterization of two DYRK1B variants causative of AOMS3.
- Authors
Detro-Dassen, Silvia; Sternberg, Anna; Lehmann, Sonja Maria; Schwandt, Katharina; Düsterhöft, Stefan; Becker, Walter
- Abstract
Background: Two new missense variants (K68Q and R252H) of the protein kinase DYRK1B were recently reported to cause a monogenetic form of metabolic syndrome with autosomal dominant inheritance (AOMS3). Results: Our in vitro functional analysis reveals that neither of these substitutions eliminates or enhances the catalytic activity of DYRK1B. DYRK1B-K68Q displays reduced nuclear translocation. Conclusion: The pathogenicity of DYRK1B variants does not necessarily correlate with the gain or loss of catalytic activity, but can be due to altered non-enzymatic characteristics such as subcellular localization.
- Publication
Orphanet Journal of Rare Diseases, 2024, Vol 19, p1
- ISSN
1750-1172
- Publication type
Letter
- DOI
10.1186/s13023-024-03183-0