Area
Endocrine, Nutritional and Metabolic DiseasesIndication
Sanfilippo Syndrome B and CSystem
In vitroModel references
PLoS One. 2015;10: e0135873
Patients’ fibroblasts as therapeutic model of Heparan Sulphate substracts reduction through shRNA.
Applications
- Cell reprogramming.
- Splicing analysis (microexon).
- Study of mechanisms that generate recombinant alleles traffic.
- Nonsense mediated decay genotype-phenotype correlation gene silencing.
- New therapeutic strategies research.
- Mutant alleles characterization and expression.
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)
