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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Publicado no:Am J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
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Article
Acesso em linha: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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