Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease

Impaired function of NPC1 or NPC2 lysosomal proteins leads to the intracellular accumulation of unesterified cholesterol, the primary defect underlying Niemann-Pick type C (NPC) disease. In addition, glycosphingolipids (GSLs) accumulate in lysosomes as well. Intralysosomal lipid accumulation trigger...

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Publicat a:PLoS One
Autors principals: Marques, André R. A., Gabriel, Tanit L., Aten, Jan, van Roomen, Cindy P. A. A., Ottenhoff, Roelof, Claessen, Nike, Alfonso, Pilar, Irún, Pilar, Giraldo, Pilar, Aerts, Johannes M. F. G., van Eijk, Marco
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2016
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4714856/
https://ncbi.nlm.nih.gov/pubmed/26771826
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0147208
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