Drosophila models of PIGA-CDG mirror patient phenotypes

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 involv...

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Detalles Bibliográficos
Autores principales: Thorpe, Holly J., Owings, Katie G., Aziz, Miriam C., Haller, Madelyn, Coelho, Emily, Chow, Clement Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10634882/
https://www.ncbi.nlm.nih.gov/pubmed/37961693
http://dx.doi.org/10.1101/2023.10.27.564441

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10634882/
https://www.ncbi.nlm.nih.gov/pubmed/37961693
http://dx.doi.org/10.1101/2023.10.27.564441

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