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Article

Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.

Current biology : CB - 2 Feb 2015

Vasudevan Deepika, Takeuchi Hideyuki, Johar Sumreet Singh, Majerus Elaine, Haltiwanger Robert S

Abstract excerpt

BACKGROUND: O-fucose is added to cysteine-rich domains called thrombospondin type 1 repeats (TSRs) by protein O-fucosyltransferase 2 (POFUT2) and is elongated with glucose by β3-glucosyltransferase (B3GLCT). Mutations in B3GLCT result in Peters plus syndrome (PPS), an autosomal recessive disorder...

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Source

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Identifiers

PMID: 25544610
DOI: 10.1016/j.cub.2014.11.049
PMCID: PMC4318717

Genes

POFUT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25544610-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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