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Article

Enzyme dysfunction at atomic resolution: Disease-associated variants of human phosphoglucomutase-1.

Biochimie - 1 Apr 2021

Beamer Lesa J

Abstract excerpt

Once experimentally prohibitive, structural studies of individual missense variants in proteins are increasingly feasible, and can provide a new level of insight into human genetic disease. One example of this is the recently identified inborn error of metabolism known as phosphoglucomutase-1 (PGM1) deficiency. Just as different variants of a protein can produce different patient phenotypes, they may also produce...

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PMID: 32898648
DOI: 10.1016/j.biochi.2020.08.017

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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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