A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1

O‐GlcNAcylation is a post‐translational modification catalysed by O‐GlcNAc transferase (OGT). Missense mutations in OGT have been associated with developmental disorders, OGT‐linked congenital disorder of glycosylation (OGT‐CDG), which are characterized by intellectual disability. OGT relies on the...

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Detalles Bibliográficos
Autores principales: Chen, Xiping, Raimi, Olawale G., Ferenbach, Andrew T., van Aalten, Daan M.F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839538/
https://www.ncbi.nlm.nih.gov/pubmed/33098688
http://dx.doi.org/10.1002/1873-3468.13968

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839538/
https://www.ncbi.nlm.nih.gov/pubmed/33098688
http://dx.doi.org/10.1002/1873-3468.13968

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