Rare catechol-O-methyltransferase (COMT) missense variants are structurally unstable proteasome targets
F. B. Larsen, M. Cagiada, J. Dideriksen, A. Stein, K. Lindorff-Larsen, R. Hartmann-Petersen
The paper shows two rare COMT missense variants are structurally unstable, leading to proteasomal degradation and reduced enzyme levels, with degradation independent of COMT isoform.
bioRxiv · Jan 3, 2023Biochemistry