Article

<i>Drosophila</i> models of PIGA-CDG mirror patient phenotypes

2023-10-27

Abstract excerpt

Mutations in the phosphatidylinositol glycan biosynthesis class A (PIGA) gene cause a rare, X-linked recessive congenital disorder of glycosylation (CDG). PIGA-CDG is characterized by seizures, intellectual and developmental delay, and congenital malformations. The PIGA gene encodes an enzyme involved in the first step of GPI anchor biosynthesis. There are over 100 GPI anchored proteins that attach to the cell su...

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Literature Corpus work: 23108135-b90c-592f-b0db-34b02e9ad85b
DOI: 10.1101/2023.10.27.564441

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