A carregar...
New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease
Niemann-Pick disease type C (NPC) is a rare neurovisceral disease caused mainly by mutations in the NPC1 gene. This autosomal recessive lysosomal disorder is characterised by the defective lysosomal secretion of cholesterol and sphingolipids. No effective therapy exists for the disease. We previousl...
Na minha lista:
| Publicado no: | Sci Rep |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2017
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5294585/ https://ncbi.nlm.nih.gov/pubmed/28167839 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep41931 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|