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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...

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Detaylı Bibliyografya
Yayımlandı:PLoS One
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2016
Konular:
Online Erişim: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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