| Autor: |
Silvia Detro-Dassen, Anna Sternberg, Sonja Maria Lehmann, Katharina Schwandt, Stefan Düsterhöft, Walter Becker |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-4 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
1750-1172 |
| DOI: |
10.1186/s13023-024-03183-0 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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