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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society for Biochemistry and Molecular Biology 2016
Materias:
Technological Innovation and Resources
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824866/
https://www.ncbi.nlm.nih.gov/pubmed/26785728
http://dx.doi.org/10.1074/mcp.M115.054122

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824866/
https://www.ncbi.nlm.nih.gov/pubmed/26785728
http://dx.doi.org/10.1074/mcp.M115.054122

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