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Article

Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts.

The Journal of biological chemistry - 7 Oct 2011

Otomo Takanobu, Higaki Katsumi, Nanba Eiji, Ozono Keiichi, Sakai Norio

Abstract excerpt

Mucolipidosis II (ML-II) is a fatal inherited metabolic disease caused by deficiency of GlcNAc-phosphotransferase, which plays a role in generating the mannose 6-phosphate recognition marker on lysosomal enzymes. In ML-II, many lysosomal acid hydrolases are mistargeted out of cells, and lysosomes become filled with undigested substrates, which explains inclusion cell disease as an alternative name for this...

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Identifiers

PMID: 21846724
DOI: 10.1074/jbc.M111.267930
PMCID: PMC3186395

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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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