Article
Drosophila models of phosphatidylinositol glycan biosynthesis class A congenital disorder of glycosylation (PIGA-CDG) mirror patient phenotypes.
G3 (Bethesda, Md.) - 6 Mar 2024
Thorpe Holly J, Owings Katie G, Aziz Miriam C, Haller Madelyn, Coelho Emily, Chow Clement Y
Abstract excerpt
Mutations in the phosphatidylinositol glycan biosynthesis class A (PIGA) gene cause a rare, X-linked recessive congenital disorder of glycosylation. Phosphatidylinositol glycan biosynthesis class A congenital disorder of glycosylation (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...
Topics
- Animals
- Humans
- Glycosylphosphatidylinositols
- Glycosylation
- Drosophila
- Phosphatidylinositols
- Phenotype
- Seizures
- Mutation