Article
HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation.
Molecular genetics and metabolism - 1 Jan 2000
Vilas Alicia, Briso-Montiano Álvaro, Segovia-Falquina Cristina, Martín-Martínez Arturo, Soriano-Sexto Alejandro, Gallego Diana, Ruiz-Montés Vera, Gámez Alejandra, Pérez Belén
Abstract excerpt
Phosphomannomutase 2 deficiency (PMM2-CDG), the most frequent congenital disorder of glycosylation, is an autosomal recessive disease caused by biallelic pathogenic variants in the PMM2 gene. There is no cure for this multisystemic syndrome. Some of the therapeutic approaches that are currently in development include mannose-1-phosphate replacement therapy, drug repurposing, and the use of small chemical...
Topics
- Humans
- Congenital Disorders of Glycosylation
- Phosphotransferases (Phosphomutases)
- Hep G2 Cells
- CRISPR-Cas Systems
- Gene Editing
- Gene Knockout Techniques
- Phenotype