Article

Activation of WNT signaling restores the facial deficits in a zebrafish with defects in cholesterol metabolism

2020-02-14

Abstract excerpt

<h4>Background</h4> Inborn errors of cholesterol metabolism occur as a result of mutations in the cholesterol synthesis pathway (CSP). Although mutations in the CSP cause a multiple congenital anomaly syndrome, craniofacial abnormalities are a hallmark phenotype associated with these disorders. Previous studies have established that mutation of the zebrafish hmgcs1 gene (Vu57 allele), which encodes the first enz...

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Literature Corpus work: ebd31815-ae5a-55ae-bdda-c2d5323a9715
DOI: 10.1101/2020.02.14.949958

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