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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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Elsevier 2019
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Article
Online Zugang: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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