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Article

Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.

The Journal of biological chemistry - 21 Mar 2008

Hess Daniel, Keusch Jeremy J, Oberstein Saskia A Lesnik, Hennekam Raoul C M, Hofsteenge Jan

Abstract excerpt

Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye chamber defects, disproportionate short stature, developmental delay, and cleft lip and/or palate. It is caused by splice site mutations in what was thought to be a beta1,3-galactosyltransferase-like gene (B3GAL...

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Source

Identifiers

PMID: 18199743
DOI: 10.1074/jbc.M710251200

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18199743-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.PMID 18199743Read ↗

Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats.Semantic proximity Read ↗

Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.Semantic proximity Read ↗

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.Semantic proximity Read ↗

Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase.Semantic proximity Read ↗

Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.Semantic proximity Read ↗

High-throughput analysis of B3GLCT regulation predicts phenotype of Peters’ Plus Syndrome in line with the miRNA Proxy HypothesisSemantic proximity Read ↗

ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndromeSemantic proximity Read ↗

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A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.Semantic proximity Read ↗

Mutation analysis of B3GALTL in Peters Plus syndrome.Semantic proximity Read ↗

Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.Semantic proximity Read ↗

Widely used commercial ELISA does not detect preHP-2, but recognizes properdin as a potential second member of the zonulin familySemantic proximity Read ↗

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