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...

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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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7019814/
https://www.ncbi.nlm.nih.gov/pubmed/31861571
http://dx.doi.org/10.3390/jcm9010012

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