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Article

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Genome biology - 16 Apr 2024

Gersing Sarah, Schulze Thea K, Cagiada Matteo, Stein Amelie, Roth Frederick P, Lindorff-Larsen Kresten, Hartmann-Petersen Rasmus

Abstract excerpt

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 our previous comprehensive study on GCK variant activity. RESULTS: Using a yeast growth-based assay, we score the abundance...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38627865
DOI: 10.1186/s13059-024-03238-2
PMCID: PMC11021015

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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