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Article

Balancing N-linked glycosylation to avoid disease.

Biochimie - 1 Aug 2001

Freeze H H, Westphal V

Abstract excerpt

Complete loss of N-glycosylation is lethal in both yeast and mammals. Substantial deficiencies in some rate-limiting biosynthetic steps cause human congenital disorders of glycosylation (CDG). Patients have a range of clinical problems including variable degrees of mental retardation, liver dysfunction, and intestinal disorders. Over 60 mutations in phosphomannomutase (encoded by PMM2) diminish activity and cause...

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Topics

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Share to Carbohydrate Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11530212
DOI: 10.1016/s0300-9084(01)01292-5

Genes

PMM2
ALG6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Balancing N-linked glycosylation to avoid disease.PMID 11530212Read ↗

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The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.Semantic proximity Read ↗

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