The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

Phosphoglucomutase 1 (PGM1) encodes the metabolic enzyme that interconverts glucose-6-P and glucose-1-P. Mutations in PGM1 cause impairment in glycogen metabolism and glycosylation, the latter manifesting as a congenital disorder of glycosylation (CDG). This unique metabolic defect leads to abnormal...

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Publicat a:Am J Hum Genet
Autors principals: Radenkovic, Silvia, Bird, Matthew J., Emmerzaal, Tim L., Wong, Sunnie Y., Felgueira, Catarina, Stiers, Kyle M., Sabbagh, Leila, Himmelreich, Nastassja, Poschet, Gernot, Windmolders, Petra, Verheijen, Jan, Witters, Peter, Altassan, Ruqaiah, Honzik, Tomas, Eminoglu, Tuba F., James, Phillip M., Edmondson, Andrew C., Hertecant, Jozef, Kozicz, Tamas, Thiel, Christian, Vermeersch, Pieter, Cassiman, David, Beamer, Lesa, Morava, Eva, Ghesquière, Bart
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6506806/
https://ncbi.nlm.nih.gov/pubmed/30982613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.03.003
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