Article

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay

2023-05-24

Abstract excerpt

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 of human glucokinase (GCK) variants, building on our previous comprehensive study on GCK variant activity. We assayed the abundance of 95% of GCK missense and nonsense variants, and found that 43% of hypoactive v...

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Literature Corpus work: 52979d9b-ca6b-5ea2-a444-f4c4ce24ef03
DOI: 10.1101/2023.05.24.542036

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