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...

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Detalles Bibliográficos
Autores principales: Gómez-Grau, Marta, Albaigès, Júlia, Casas, Josefina, Auladell, Carme, Dierssen, Mara, Vilageliu, Lluïsa, Grinberg, Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294585/
https://www.ncbi.nlm.nih.gov/pubmed/28167839
http://dx.doi.org/10.1038/srep41931

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294585/
https://www.ncbi.nlm.nih.gov/pubmed/28167839
http://dx.doi.org/10.1038/srep41931

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