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Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling

Reduced phosphomannomutase 2 activity in man leads to hypoglycosylation of glycoconjugates causing PMM2-CDG, the most common type of congenital disorders of glycosylation. Here we show that an antisense morpholino-mediated knockdown of the Xenopus laevis phosphomannomutase 2 gene provoked a general...

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Bibliographische Detailangaben
Hauptverfasser: Himmelreich, Nastassja (VerfasserIn) , Kaufmann, Lilian (VerfasserIn) , Steinbeisser, Herbert (VerfasserIn) , Körner, Christian (VerfasserIn) , Thiel, Christian (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 04 July 2015
In: Journal of inherited metabolic disease
Year: 2015, Jahrgang: 38, Heft: 6, Pages: 1137-1146
ISSN:1573-2665
DOI:10.1007/s10545-015-9874-0
Online-Zugang:Verlag, Volltext: https://doi.org/10.1007/s10545-015-9874-0
Verlag: https://onlinelibrary.wiley.com/doi/abs/10.1007/s10545-015-9874-0
Volltext
Verfasserangaben:Nastassja Himmelreich, Lilian T. Kaufmann, Herbert Steinbeisser, Christian Körner, Christian Thiel
Beschreibung
Zusammenfassung:Reduced phosphomannomutase 2 activity in man leads to hypoglycosylation of glycoconjugates causing PMM2-CDG, the most common type of congenital disorders of glycosylation. Here we show that an antisense morpholino-mediated knockdown of the Xenopus laevis phosphomannomutase 2 gene provoked a general underglycosylation in frog embryos, which led to an altered phenotype and reduced glycosylation of Wnt5a as member of the non-canonical Wnt signalling. Loss of function experiments in hemi-sectioned embryos proved that due to the phosphomannomutase 2 knockdown expression of the Wnt5a/Ror2 target gene paraxial protocadherin was significantly decreased. Regarding the expression of paraxial protocadherin, a gain of function could only be achieved by injections of wnt5a and ror2 in dorsal neighbouring blastomeres, while a parallel injection of phosphomannomutase 2 morpholino led to a significant reduced level of expression. Our data show for the first time that a knockdown of phosphomannomutase 2 influences in vivo the non-canonical Wnt signalling during early embryogenesis.
Beschreibung:Gesehen am 03.09.2020
Beschreibung:Online Resource
ISSN:1573-2665
DOI:10.1007/s10545-015-9874-0

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