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Article

Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.

Journal of inherited metabolic disease - 1 Dec 2010

Kirk J, Porter K M, Parker V, Barroso I, O'Rahilly S, Hendriksz C, Semple R K

Abstract excerpt

In Npc1 null mice, a model for Niemann Pick Disease Type C1, it has been reported that hepatocyte insulin receptor function is significantly impaired, consistent with growing evidence that membrane fluidity and microdomain structure have an important role in insulin signal transduction. However, whether insulin receptor function is also compromised in human Niemann Pick disease Type C1 is unclear. We now report a...

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Source

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Identifiers

PMID: 20521171
DOI: 10.1007/s10545-010-9107-5
PMCID: PMC3757264

Genes

INSR
NPC1

Variants

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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Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.PMID 20521171Read ↗

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