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Article

Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein.

The Journal of biological chemistry - 30 Jul 1999

Watari H, Blanchette-Mackie E J, Dwyer N K, Watari M, Neufeld E B, Patel S, Pentchev P G, Strauss J F

Abstract excerpt

Niemann-Pick type C (NPC) disease, characterized by accumulation of low density lipoprotein-derived free cholesterol in lysosomes, is caused by mutations in the NPC1 gene. We examined the ability of wild-type NPC1 and NPC1 mutants to correct the NPC sterol trafficking defect and their subcellular...

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Source

Identifiers

PMID: 10419504
DOI: 10.1074/jbc.274.31.21861

Genes

NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10419504-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein.PMID 10419504Read ↗

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