Associated Papers
Loss of stability and unfolding cooperativity in hPGK1 upon gradual structural perturbation of its N-terminal domain hydrophobic core.
Pacheco-García JL et al.
Scientific Reports, 2022
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.
Echaniz-Laguna A et al.
Journal of Inherited Metabolic Disease, 2019
Identification of a novel variant in phosphoglycerate kinase-1 (PGK1) in an African-American child (PGK1 Detroit).
Zaidi AU et al.
Pediatric Hematology and Oncology, 2019
A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.
Matsumaru S et al.
Intractable & Rare Diseases Research, 2017
Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses.
Pey AL et al.
Journal of Inherited Metabolic Disease, 2014
Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.
Valentini G et al.
Biomolecules, 2013
The interplay between protein stability and dynamics in conformational diseases: the case of hPGK1 deficiency.
Pey AL
Biochimica Et Biophysica Acta, 2013
Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency.
Pey AL et al.
Biochemistry, 2013
Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.
Chiarelli LR et al.
Plos One, 2012
A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships.
Valentin C et al.
Human Mutation, 1998
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