Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism

Niemann–Pick type C1 (NPC1) is a lysosomal storage disorder, inherited as an autosomal-recessive trait. Mutations in the Npc1 gene result in malfunction of the NPC1 protein, leading to an accumulation of unesterified cholesterol and glycosphingolipids. Beside visceral symptoms like hepatosplenomegal...

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Detalles Bibliográficos
Autores principales: Gläser, Anne, Hammerl, Franziska, Gräler, Markus H., Coldewey, Sina M., Völkner, Christin, Frech, Moritz J., Yang, Fan, Luo, Jiankai, Tönnies, Eric, von Bohlen und Halbach, Oliver, Brandt, Nicola, Heimes, Diana, Neßlauer, Anna-Maria, Korenke, Georg Christoph, Owczarek-Lipska, Marta, Neidhardt, John, Rolfs, Arndt, Wree, Andreas, Witt, Martin, Bräuer, Anja Ursula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352403/
https://www.ncbi.nlm.nih.gov/pubmed/32599915
http://dx.doi.org/10.3390/ijms21124502

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352403/
https://www.ncbi.nlm.nih.gov/pubmed/32599915
http://dx.doi.org/10.3390/ijms21124502

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