Functional characterization of two DYRK1B variants causative of AOMS3.

Silvia Detro-DassenAnna SternbergSonja Maria LehmannKatharina Schwandt Stefan Düsterhöft Walter Becker

Published in: Orphanet journal of rare diseases (2024)

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.

Keyphrases

copy number
hydrogen peroxide
escherichia coli
cystic fibrosis