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Article

Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency.

Biochemistry - 19 Feb 2013

Pey Angel L, Mesa-Torres Noel, Chiarelli Laurent R, Valentini Giovanna

Abstract excerpt

Protein kinetic destabilization is a common feature of many human genetic diseases. Human phosphoglycerate kinase 1 (PGK1) deficiency is a rare genetic disease caused by mutations in the PGK1 protein, which often shows reduced kinetic stability. In this work, we have performed an in-depth characterization of the thermal stability of the wild type and four disease-causing mutants (I47N, L89P, E252A, and T378P) of...

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Source

Identifiers

PMID: 23336698
DOI: 10.1021/bi301565m

Genes

PGK1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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