Experimental models

Area

Endocrine, Nutritional and Metabolic Diseases

Indication

Niemann-Pick Disease C

System

In vivo

Model references

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)

Applications

  • 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.

Model advantages

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.

Principal investigators

Daniel-Raul Grinberg, Ma Lluïsa Vilageliu.

Other group publications

PubMed publications.

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