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Article

Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding.

The Journal of biological chemistry - 28 Mar 2008

Gelsthorpe Mark E, Baumann Nikola, Millard Elizabeth, Gale Sarah E, Langmade S Joshua, Schaffer Jean E, Ory Daniel S

Abstract excerpt

Over 200 disease-causing mutations have been identified in the NPC1 gene. The most prevalent mutation, NPC1(I1061T), is predicted to lie within the cysteine-rich luminal domain and is associated with the classic juvenile-onset phenotype of Niemann-Pick type C disease. To gain insight into the mol...

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Source

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Identifiers

PMID: 18216017
DOI: 10.1074/jbc.M708735200
PMCID: PMC2276376

Genes

NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18216017-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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