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Article

Molecular analysis of the GlcNac-1-phosphotransferase.

Journal of inherited metabolic disease - 1 Apr 2008

Braulke T, Pohl S, Storch S

Abstract excerpt

Modification of the carbohydrate chains of soluble lysosomal enzymes with mannose 6-phosphate residues is a prerequisite for their mannose 6-phosphate receptor-dependent transport to lysosomes. GlcNac-1-phosphotransferase localized in the Golgi apparatus represents a hexameric alpha(2)beta(2)gamma(2) subunit complex and plays a key role in the formation of the mannose 6-phosphate recognition marker. Defects in...

Read the complete abstract on PubMed

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

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Source

Identifiers

PMID: 18425436
DOI: 10.1007/s10545-008-0862-5

Genes

GNPTAB
GNPTG

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Molecular analysis of the GlcNac-1-phosphotransferase.PMID 18425436Read ↗

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The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update onGNPTABandGNPTGmutationsSemantic proximity Read ↗

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.Semantic proximity Read ↗

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.Semantic proximity Read ↗

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Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.Semantic proximity Read ↗

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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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