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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4714856/ https://www.ncbi.nlm.nih.gov/pubmed/26771826 http://dx.doi.org/10.1371/journal.pone.0147208 |
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