NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

Autor: Bibiche den Hollander, Anne Rasing, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Dirk J. Lefeber, Clara D. M. van Karnebeek

Publikováno v: Frontiers in Neurology, Vol 12 (2021)

Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. Sialic acid at the end of glycoconjugates plays a key role

Externí odkaz: https://doaj.org/article/8c594ab0c7de47199c4d3dccb48830a8

Lectin staining and Western blot data showing differential sialylation of nutrient-deprived cancer cells to sialic acid supplementation

Autor: Haitham A. Badr, Dina M.M. AlSadek, Mohit P. Mathew, Chen-Zhong Li, Leyla B. Djansugurova, Kevin J. Yarema, Hafiz Ahmed

Publikováno v: Data in Brief, Vol 5, Iss C, Pp 481-488 (2015)

This report provides data that are specifically related to the differential sialylation of nutrient deprived breast cancer cells to sialic acid supplementation in support of the research article entitled, “Nutrient-deprived cancer cells preferentia

Externí odkaz: https://doaj.org/article/e817b9801a9b42d980b4ee491a1d1fcb

The Key Enzyme of the Sialic Acid Metabolism Is Involved in Embryoid Body Formation and Expression of Marker Genes of Germ Layer Formation

Autor: Annett Thate, Rüdiger Horstkorte, Dorit Bennmann, Jessica Hering, Wenke Weidemann

Publikováno v: International Journal of Molecular Sciences, Vol 14, Iss 10, Pp 20555-20563 (2013)

The bi-functional enzyme UDP-N-acetyl-2-epimerase/N-acetylmannosamine kinase (GNE) is the key enzyme of the sialic acid biosynthesis. Sialic acids are negatively charged nine carbon amino sugars and are found on most glycoproteins and many glycolipid

Externí odkaz: https://doaj.org/article/46084feefd484e3293128e7ab8caff6f

NANS-CDG:Delineation of the Genetic, Biochemical, and Clinical Spectrum

Autor: Bibiche den Hollander, Anne Rasing, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Dirk J. Lefeber, Clara D. M. van Karnebeek

Publikováno v: den Hollander, B, Rasing, A, Post, M A, Klein, W M, Oud, M M, Brands, M M, de Boer, L, Engelke, U F H, van Essen, P, Fuchs, S A, Haaxma, C A, Jensson, B O, Kluijtmans, L A J, Lengyel, A, Lichtenbelt, K D, Østergaard, E, Peters, G, Salvarinova, R, Simon, M E H, Stefansson, K, Thorarensen, Ó, Ulmen, U, Coene, K L M, Willemsen, M A, Lefeber, D J & Karnebeek, C D M V 2021, ' NANS-CDG : Delineation of the Genetic, Biochemical, and Clinical Spectrum ', Frontiers in Neurology, vol. 12, 668640 . https://doi.org/10.3389/fneur.2021.668640
Frontiers in Neurology, 12
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology
Frontiers in neurology, 12:668640. Frontiers Media S.A.

Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. Sialic acid at the end of glycoconjugates plays a key role

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b43c25ea99a3697185811c0f8e3e2464
https://curis.ku.dk/portal/da/publications/nanscdg(71448156-5842-4473-8ce5-582da2117811).html

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