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Article

A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.

The Journal of biological chemistry - 26 Sept 2014

Paton Leigh, Bitoun Emmanuelle, Kenyon Janet, Priestman David A, Oliver Peter L, Edwards Benjamin, Platt Frances M, Davies Kay E

Abstract excerpt

Mucolipidosis II (MLII) is a lysosomal storage disorder caused by loss of N-acetylglucosamine-1-phosphotransferase, which tags lysosomal enzymes with a mannose 6-phosphate marker for transport to the lysosome. In MLII, the loss of this marker leads to deficiency of multiple enzymes and non-enzymatic proteins in the lysosome, leading to the storage of multiple substrates. Here we present a novel mouse model of...

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Source

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Identifiers

PMID: 25107912
DOI: 10.1074/jbc.M114.586156
PMCID: PMC4175314

Genes

GNPTAB

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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