Investigating the role of UDP-N-acetylhexosamine pyrophosphorylases in regulating O-GlcNAcylation in human disease

Xiping Chen

Gene Regulation and Expression

Student thesis: Doctoral Thesis › Doctor of Philosophy

Abstract

Date of Award	2021
Original language	English
Sponsors	China Scholarship Council
Supervisor	Daan van Aalten (Supervisor)

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Research Outputs
A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1
Research output: Contribution to journal › Article › peer-review

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