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Article

Biallelic Deletion of Pxdn in Mice Leads to Anophthalmia and Severe Eye Malformation

5 Dec 2019

Abstract excerpt

Peroxidasin (PXDN) is a unique peroxidase containing extracellular matrix motifs and stabilizes collagen IV networks by forming sulfilimine crosslinks. PXDN gene knockout in Caenorhabditis elegans (C. elegans) and Drosophila results in the demise at the embryonic and larval stages. PXDN mutations lead to severe eye disorders, including microphthalmia, cataract, glaucoma, and anterior segment dysgenesis in humans...

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PMID: 31817535
DOI: 10.3390/ijms20246144

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