Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study [PDF]
, 2017 Additional file 1.
Carmen Dominguez +9 more
core +3 more sources
Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT Niemann‐Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder that affects approximately 1 in 100 000 live births. It is primarily caused by mutations in the NPC1 gene, which disrupts intracellular cholesterol transport and leads to lipid accumulation in late endosomes and lysosomes.
Sanaa Abdelmalek Mahmoud +3 more
wiley +1 more source
Recovery from liver disease in a Niemann-Pick type C mouse model
Journal of Lipid Research, 2010 Loss of function of Niemann-Pick C1 (NPC1) leads to lysosomal free cholesterol storage, resulting in the neurodegenerative disease Niemann-Pick disease type C (NPC). Significant numbers of patients with NPC also suffer from liver disease.
Naomi L. Sayre +4 more
doaj +1 more source
Correction: Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. [PDF]
PLoS ONE, 2018 [This corrects the article DOI: 10.1371/journal.pone.0175478.].
Alfred L Yergey +5 more
doaj +1 more source
Journal of Lipid Research, 2022 Niemann-Pick type C1 (NPC1) disease is a progressive lysosomal storage disorder caused by mutations of the NPC1 gene. While neurodegeneration is the most severe symptom, a large proportion of NPC1 patients also present with splenomegaly, which has been ...
Anouk G. Groenen +12 more
doaj +1 more source
Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability. [PDF]
, 2019 There is increasing evidence that the lysosome is involved in the pathogenesis of a variety of neurodegenerative disorders. Thus, mechanisms that link lysosome dysfunction to the disruption of neuronal homeostasis offer opportunities to understand the ...
Dickson, Eamonn J +4 more
core +2 more sources
Niemann-Pick C1 (NPC1)/NPC1-like1 Chimeras Define Sequences Critical for NPC1’s Function as a Filovirus Entry Receptor [PDF]
, 2012 We recently demonstrated that Niemann-Pick C1 (NPC1), a ubiquitous 13-pass cellular membrane protein involved in lysosomal cholesterol transport, is a critical entry receptor for filoviruses.
Chandran, Kartik +7 more
core +2 more sources
Liver Fibrosis: Molecular Pathogenesis and Therapeutic Interventions
MedComm, Volume 7, Issue 5, May 2026.We systematically summarized the etiologies, diagnostic approaches, and pathogenic mechanisms of liver fibrosis. Also, the therapeutic interventions for liver fibrosis were systematically classified into two main categories: etiological treatment and mechanism‐based antifibrotic therapies.
Jiaorong Qu +8 more
wiley +1 more source
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease [PDF]
, 2016 This article describes a rapid UPLC-MS/MS method to quantitate novel bile acids in biological fluids and the evaluation of their diagnostic potential in Niemann-Pick C (NPC). Two new compounds, NPCBA1 (3β-hydroxy,7β-N-acetylglucosaminyl-5-cholenoic acid)
Camuzeaux, S +13 more
core +1 more source
Cancer Nexus, Volume 2, Issue 2, April 2026.ABSTRACT Lipid nanoparticles (LNPs) represent the most clinically advanced platform for RNA delivery and have enabled major breakthroughs in vaccines and gene therapies. However, their broader application is still limited by inefficient extrahepatic delivery, immunogenicity, and insufficient control over tissue‐ and cell‐specific targeting. This review
Yu Han +5 more
wiley +1 more source