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Article

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

Journal of medical genetics - 1 Jan 2010

Cathey S S, Leroy J G, Wood T, Eaves K, Simensen R J, Kudo M, Stevenson R E, Friez M J

Abstract excerpt

BACKGROUND: Mucolipidoses II and III alpha/beta (ML II and ML III) are lysosomal disorders in which the essential mannose 6-phosphate recognition marker is not synthesised on to lysosomal hydrolases and other glycoproteins. The disorders are caused by mutations in GNPTAB, which encodes two of three subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase. OBJECTIVES: Clinical, biochemical...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19617216
DOI: 10.1136/jmg.2009.067736
PMCID: PMC3712854

Genes

GNPTAB

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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Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.PMID 19617216Read ↗

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Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB).Semantic proximity Read ↗

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