AreaEndocrine, Nutritional and Metabolic Diseases
IndicationSanfilippo Syndrome B and C
Stem Cell Reports. 2015; 5: 546-57
Sanfilippo C IPSC neurons and astrocytes: patient-derived IPCs fibroblasts of Sanfilippo C syndrome patients differentiation into neu- rons
- 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).