Area
Endocrine, Nutritional and Metabolic DiseasesIndication
Sanfilippo Syndrome B and CSystem
In vitroModel references
Stem Cell Res, under review
Sanfilippo B and C Neurons and Astrocytes (using CRISPR/Cas9)
Applications
- Cell reprogramming.
- Mutant alleles characterization and expression.
- Study of mechanisms that generate recombinant alleles traffic.
- Nonsense mediated decay genotype-phenotype correlation gene silencing.
- New therapeutic strategies research.
- Splicing analysis (microexon).
Model advantages
These models allow deci- phering and classifying pre-symptomatic stages of Sanfilippo Syndrome, to describe a disease progres- sion model and results in a drug screening platform for new therapeutic approaches (i.e. aminoglycoside antibiotics, antisense oligonucleotides, chaperones).
