Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization

Niemann-Pick Type C (NP-C) is an inherited neurovisceral lysosomal storage disease characterized by a defect in the trafficking of endocytosed cholesterol. In 95% of patients the gene encoding NPC1 is affected. The correlation of the genetic background in NP-C with the clinical phenotype such as, se...

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Detalles Bibliográficos
Autores principales: Shammas, Hadeel, Kuech, Eva-Maria, Rizk, Sandra, Das, Anibh M., Naim, Hassan Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438969/
https://www.ncbi.nlm.nih.gov/pubmed/30923329
http://dx.doi.org/10.1038/s41598-019-41707-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438969/
https://www.ncbi.nlm.nih.gov/pubmed/30923329
http://dx.doi.org/10.1038/s41598-019-41707-y

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