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Article

A hypomorphic Mpi mutation unlocks an in vivo tool for studying global N-glycosylation deficiency.

JCI insight - 22 Jul 2025

Lin Elisa B, Meregini Steve, Zhang Zhao, Roy Avishek, Argula Tandav, Mitchell James M, Israelsen William J, Ludwig Sara, Russell Jamie, Quan Jiexia, Hildebrand Sara, Nair-Gill Evan, Beutler Bruce, SoRelle Jeffrey A

Abstract excerpt

Glycans are one of the 4 major macromolecules essential for life and are the most abundant family of organic molecules. However, in contrast with DNA and RNA, glycan structures have no template; this results in limited tools to study this challenging macromolecule with a diversity of glycan structures. A central bottleneck in studying glycosylation in vivo is that inhibitors and complete KOs are lethal. In a...

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Identifiers

PMID: 40693465
DOI: 10.1172/jci.insight.180752
PMCID: PMC12288971

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