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

Abstract

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… (More)
DOI: 10.1007/s10545-010-9107-5

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@inproceedings{Kirk2010LossON, title={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}, author={John W Kirk and Keith M. Porter and Vivienne Parker and In{\^e}s Barroso and Stephen O’Rahilly and Christian J. Hendriksz and Robert K Semple}, booktitle={Journal of Inherited Metabolic Disease}, year={2010} }