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Article

Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations.

Glycobiology - 1 Aug 2017

McMillan Brian J, Zimmerman Brandon, Egan Emily D, Lofgren Michael, Xu Xiang, Hesser Anthony, Blacklow Stephen C

Abstract excerpt

Protein O-fucosyltransferase-1 (POFUT1), which transfers fucose residues to acceptor sites on serine and threonine residues of epidermal growth factor-like repeats of recipient proteins, is essential for Notch signal transduction in mammals. Here, we examine the consequences of POFUT1 loss on the oncogenic signaling associated with certain leukemia-associated mutations of human Notch1, report the structures of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28334865
DOI: 10.1093/glycob/cwx020
PMCID: PMC5881682

Genes

POFUT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations.PMID 28334865Read ↗

Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.Semantic proximity Read ↗

O-fucosylation of the notch ligand mDLL1 by POFUT1 is dispensable for ligand function.Semantic proximity Read ↗

Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos DiseaseSemantic proximity Read ↗

Regulation of notch signaling by o-linked fucose.Semantic proximity Read ↗

Notch signalling in the paraxial mesoderm is most sensitive to reduced Pofut1 levels during early mouse development.Semantic proximity Read ↗

Genetic Diseases of Fucosylation: Insights from Model OrganismsSemantic proximity Read ↗

Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.Semantic proximity Read ↗

Chaperone activity of protein O-fucosyltransferase 1 promotes notch receptor folding.Semantic proximity Read ↗

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