1.
Orphanet J Rare Dis
; 19(1): 233, 2024 Jun 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38867326
RESUMO
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.