Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)

PMM2-CDG, formerly known as congenital disorder of glycosylation-Ia (CDG-Ia), is caused by mutations in the gene encoding phosphomannomutase 2 (PMM2). This disease is the most frequent form of inherited CDG-diseases affecting protein N-glycosylation in human. PMM2-CDG is a multisystemic disease with...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Mol Cell Proteomics
Hauptverfasser: Thiesler, Christina T., Cajic, Samanta, Hoffmann, Dirk, Thiel, Christian, van Diepen, Laura, Hennig, René, Sgodda, Malte, Weiβmann, Robert, Reichl, Udo, Steinemann, Doris, Diekmann, Ulf, Huber, Nicolas M. B., Oberbeck, Astrid, Cantz, Tobias, Kuss, Andreas W., Körner, Christian, Schambach, Axel, Rapp, Erdmann, Buettner, Falk F. R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society for Biochemistry and Molecular Biology 2016
Schlagworte:
Technological Innovation and Resources
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4824866/
https://ncbi.nlm.nih.gov/pubmed/26785728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/mcp.M115.054122
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge