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Article

Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog.

Nature genetics - 1 May 2001

Fares H, Greenwald I

Abstract excerpt

Loss of the human mucolipin-1 gene underlies mucolipidosis type IV (MLIV), a lysosomal storage disease that results in severe developmental neuropathology. Unlike other lysosomal storage diseases, MLIV is not associated with a lack of lysosomal hydrolases; instead, MLIV cells display abnormal endocytosis of lipids and accumulate large vesicles, indicating that a defect in endocytosis may underlie the disease....

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Identifiers

PMID: 11326278
DOI: 10.1038/ng0501-64

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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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