Using inactivating mutations to provide insight into drug action

Laura J Corbin; Nicholas John Timpson

doi:10.1186/s13073-015-0130-x

Using inactivating mutations to provide insight into drug action

Laura J Corbin, Nicholas John Timpson

Research output: Contribution to journal › Comment/debate (Academic Journal) › peer-review

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Abstract

The role of ezetimibe in lowering plasma cholesterol has been established; however, controversy remains about its clinical benefit. A recent study utilizes naturally occurring genetic variation within the NPC1-like 1 gene (NPC1L1) to demonstrate the potential for pharmacologic inhibition of the protein to reduce the risk of coronary heart disease. This research demonstrates the application of the concept of genocopy to a population-based validation of NPC1L1 as a therapeutic target.

Original language	English
Article number	7
Number of pages	3
Journal	Genome Medicine
Volume	7
Issue number	1
DOIs	https://doi.org/10.1186/s13073-015-0130-x
Publication status	Published - 28 Jan 2015

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Inactivating_mutations
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
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MRC UoB UNITE Unit - programme 3
Timpson, N. J. & Timpson, N. J.
1/06/13 → 31/03/18
Project: Research

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title = "Using inactivating mutations to provide insight into drug action",

abstract = "The role of ezetimibe in lowering plasma cholesterol has been established; however, controversy remains about its clinical benefit. A recent study utilizes naturally occurring genetic variation within the NPC1-like 1 gene (NPC1L1) to demonstrate the potential for pharmacologic inhibition of the protein to reduce the risk of coronary heart disease. This research demonstrates the application of the concept of genocopy to a population-based validation of NPC1L1 as a therapeutic target.",

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AU - Timpson, Nicholas John

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AB - The role of ezetimibe in lowering plasma cholesterol has been established; however, controversy remains about its clinical benefit. A recent study utilizes naturally occurring genetic variation within the NPC1-like 1 gene (NPC1L1) to demonstrate the potential for pharmacologic inhibition of the protein to reduce the risk of coronary heart disease. This research demonstrates the application of the concept of genocopy to a population-based validation of NPC1L1 as a therapeutic target.

U2 - 10.1186/s13073-015-0130-x

DO - 10.1186/s13073-015-0130-x

M3 - Comment/debate (Academic Journal)

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Using inactivating mutations to provide insight into drug action

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MRC UoB UNITE Unit - programme 3

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