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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Dettagli Bibliografici
Pubblicato in:PLoS One
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2016
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Research Article
Accesso online: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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