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A hotspot for disease-associated variants of human PGM1 is associated with impaired ligand binding and loop dynamics

Human phosphoglucomutase 1 (PGM1) plays a central role in cellular glucose homeostasis, catalyzing the conversion of glucose 1-phosphate and glucose 6-phosphate. Recently, missense variants of this enzyme were identified as causing an inborn error of metabolism, PGM1 deficiency, with features of a g...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Structure
Päätekijät: Stiers, Kyle M., Beamer, Lesa J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2018
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6314294/
https://ncbi.nlm.nih.gov/pubmed/30122451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.str.2018.07.005
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