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...

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Vydáno v:Mol Cell Proteomics
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society for Biochemistry and Molecular Biology 2016
Témata:
Technological Innovation and Resources
On-line přístup: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
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