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AAV-based gene therapy ameliorated CNS-specific GPI defect in mouse models.

Thirty genes are involved in the biosynthesis and modification of glycosylphosphatidylinositol (GPI)-anchored proteins, and defects in these genes cause inherited GPI deficiency (IGD). PIGA is X-linked and involved in the first step of GPI biosynthesis, and only males are affected by variations in this gene. [..] We crossed NestinCre mice with Piga-floxed mice to generate CNS-specific Piga knockout (KO) mice. […] Using these mouse models, we evaluated the effect of gene replacement therapy with adeno-associated virus (AAV).