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Article

Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.

Glycobiology - 1 Nov 2005

Eklund Erik A, Merbouh Nabyl, Ichikawa Mie, Nishikawa Atsushi, Clima Jessica M, Dorman James A, Norberg Thomas, Freeze Hudson H

Abstract excerpt

Patients with Type I congenital disorders of glycosylation (CDG-I) make incomplete lipid-linked oligosaccharides (LLO). These glycans are poorly transferred to proteins resulting in unoccupied glycosylation sequons. Mutations in phosphomannomutase (PMM2) cause CDG-Ia by reducing the activity of PMM, which converts mannose (Man)-6-P to Man-1-P before formation of GDP-Man. These patients have reduced Man-1-P and...

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Source

Identifiers

PMID: 16079417
DOI: 10.1093/glycob/cwj006

Genes

ALG12
ALG3
MPDU1
PMM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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