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The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of <i>COL3A1</i> mutations that cause vascular Ehlers Danlos Syndrome

2024-06-24

Abstract excerpt

<h4>Purpose</h4> Vascular Ehlers Danlos Syndrome (vEDS) is a connective tissue disorder caused by COL3A1 mutations for which there are no treatments due to a limited understanding of underlying mechanisms. We aimed to address this critical knowledge gap, focusing on collagen folding, to establish if targeting protein folding represents a potential therapeutic approach. <h4>Methods</h4> We performed a mechanist...

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Literature Corpus work
f364178f-efd0-5cea-afff-49de2eedbe19
DOI
10.1101/2024.06.20.599980
Open publication

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