Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability

Niemann-Pick Type C (NPC) is an autosomal recessive lysosomal storage disease leading to progressive neurodegeneration. Mutations in the NPC1 gene, which accounts for 95% of the cases, lead to a defect in intra-lysosomal trafficking of cholesterol and an accumulation of storage material including ch...

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Detalles Bibliográficos
Autores principales: Brogden, Graham, Shammas, Hadeel, Walters, Friederike, Maalouf, Katia, Das, Anibh M., Naim, Hassan Y., Rizk, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139583/
https://www.ncbi.nlm.nih.gov/pubmed/32204338
http://dx.doi.org/10.3390/ijms21062101

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139583/
https://www.ncbi.nlm.nih.gov/pubmed/32204338
http://dx.doi.org/10.3390/ijms21062101

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