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Article

Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.

PloS one - 1 Jan 2012

Chiarelli Laurent R, Morera Simone M, Bianchi Paola, Fermo Elisa, Zanella Alberto, Galizzi Alessandro, Valentini Giovanna

Abstract excerpt

Phosphoglycerate kinase (PGK) catalyzes an important ATP-generating step in glycolysis. PGK1 deficiency is an uncommon X-linked inherited disorder, generally characterized by various combinations of non-spherocytic hemolytic anemia, neurological dysfunctions, and myopathies. Patients rarely exhibit all three clinical features. To provide a molecular framework to the different pathological manifestations, all...

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Source

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Identifiers

PMID: 22348148
DOI: 10.1371/journal.pone.0032065
PMCID: PMC3279470

Genes

PGK1

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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