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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Dettagli Bibliografici
Pubblicato in:Mol Cell Proteomics
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society for Biochemistry and Molecular Biology 2016
Soggetti:
Technological Innovation and Resources
Accesso online: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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