Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model
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DOI: 10.1371/journal.pgen.1008984
Abstract: 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… read more here.
Keywords: sensitivity; natural variation; propionate sensitivity; propionic acidemia ... See more keywords