AreaEndocrine, Nutritional and Metabolic Diseases
IndicationNiemann-Pick Disease C
Hum Mutat. 2009 No- v30(11):E993-E1001;
Sci Rep. 2017; 7: 41931
Niemann-Pick disease type C animal (Sp: Mouse) models bearing pseu- doexon-generating mutations (Npc1imagine and Npc1pio- neer homozygous models)
- Mutation roles in the disease progression.
- Molecular and behavioral disease characterization.
- New therapeutic approaches.
- Cell reprogramming.
- Mutant alleles expression and characterization.
- Origin of mutations and splicing analysis study of mechanisms that generate recombinant alleles.
- Protein traffic.
- Protein structure.
- Nonsense mediated decay (NMD) genotype-pheno- type correlation.
- Gene silencing.
- New therapeutic strategies research.
These models allow deci- phering and classifying pre-symptomatic stages of Niemann-Pick disease, to describe a disease progres- sion model and results in a drug screening platform for new therapeutic approaches.