Destabilization and Degradation of a Disease-Linked PGM1 Protein Variant
Author:
Affiliation:
1. Department of Biology, University of Copenhagen, Ole Maalo̷es Vej 5, DK2200N Copenhagen, Denmark
Funder
Natur og Univers, Det Frie Forskningsr?d
Novo Nordisk Fonden
Publisher
American Chemical Society (ACS)
Link
https://pubs.acs.org/doi/pdf/10.1021/acs.biochem.4c00042
Reference48 articles.
1. Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
2. A Kinetic Study of the Isozymes Determined by the Three Human Phosphoglucomutase Loci PGM1, PGM2 and PGM3
3. Muscle Glycogenosis Due to Phosphoglucomutase 1 Deficiency
4. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
5. International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1‐CDG ): Diagnosis, follow‐up, and management
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