NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology

The rare lysosomal storage disorder Niemann-Pick disease type C1 (NPC1) arises from mutation of NPC1, which encodes a lysosomal transmembrane protein essential for normal transport and trafficking of cholesterol and sphingolipids. NPC1 is highly heterogeneous in both clinical phenotypes and age of o...

Descripción completa

Detalles Bibliográficos
Autores principales: Rodriguez-Gil, Jorge L., Watkins-Chow, Dawn E., Baxter, Laura L., Yokoyama, Tadafumi, Zerfas, Patricia M., Starost, Matthew F., Gahl, William A., Malicdan, May Christine V., Porter, Forbes D., Platt, Frances M., Pavan, William J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7019814/
https://www.ncbi.nlm.nih.gov/pubmed/31861571
http://dx.doi.org/10.3390/jcm9010012

Ejemplares similares

Ejemplares similares