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Article

Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a <i>C. elegans</i> propionic acidemia model

2020-03-03

Abstract excerpt

<h4>ABSTRACT</h4> Mutations in human metabolic genes can lead to rare diseases known as inborn errors of human metabolism. For instance, patients with loss-of-function mutations in either subunit of propionyl-CoA carboxylase suffer from propionic acidemia because they cannot catabolize propionate, leading to its harmful accumulation. Interestingly, both the penetrance and expressivity of metabolic disorders can b...

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Literature Corpus work
5cc55dd0-13cb-5a79-8b71-e2dd950665cc
DOI
10.1101/2020.03.02.973206
Open publication

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Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a <i>C. elegans</i> propionic acidemia modelDOI 10.1101/2020.03.02.973206
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