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Article

Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.

The Journal of biological chemistry - 14 Nov 2014

Lee Yingying, Stiers Kyle M, Kain Bailee N, Beamer Lesa J

Abstract excerpt

Recent studies have identified phosphoglucomutase 1 (PGM1) deficiency as an inherited metabolic disorder in humans. Affected patients show multiple disease phenotypes, including dilated cardiomyopathy, exercise intolerance, and hepatopathy, reflecting the central role of the enzyme in glucose met...

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Source

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Identifiers

PMID: 25288802
DOI: 10.1074/jbc.M114.597914
PMCID: PMC4231678

Genes

PGM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25288802-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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