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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...
Tallennettuna:
| Julkaisussa: | Structure |
|---|---|
| Päätekijät: | , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2018
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| 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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