Characterizing glucokinase variant mechanisms using a multiplexed abundance assay

Abstract Background Amino acid substitutions can perturb protein activity in multiple ways. Understanding their mechanistic basis may pinpoint how residues contribute to protein function. Here, we characterize the mechanisms underlying variant effects in human glucokinase (GCK) variants, building on...

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Bibliographic Details
Main Authors: Sarah Gersing, Thea K. Schulze, Matteo Cagiada, Amelie Stein, Frederick P. Roth, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
Format: Article
Language:English
Published: BMC 2024-04-01
Series:Genome Biology
Subjects:
Online Access:https://doi.org/10.1186/s13059-024-03238-2