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Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
(2023)
Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD) characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to loss of function mutations in the NPC1 and NPC2 genes. NPC ...
Npc1 deficiency in the C57BL/6J genetic background enhances Niemann–Pick disease type C spleen pathology
(2011)
Niemann–Pick type C (NPC) disease is an autosomal recessive neurovisceral lipid storage disorder. The affected genes are NPC1 and NPC2. Mutations in either gene lead to intracellular cholesterol accumulation. There are ...
Gadolinium Chloride Rescues Niemann–Pick Type C Liver Damage
(2018)
Niemann–Pick type C (NPC) disease is a rare neurovisceral cholesterol storage disorder
that arises from loss of function mutations in the NPC1 or NPC2 genes. Soon after birth, some patients present with an aggressive ...
Complement Component C3 Participates in Early Stages of Niemann-Pick C Mouse Liver Damage
(MDPI AG, 2020)
Niemann-Pick type C (NPC), a lysosomal storage disorder, is mainly caused by mutations in the NPC1 gene. Niemann-Pick type C patients and mice show intracellular cholesterol accumulation leading to hepatic failure with ...
Niemann-Pick C2 Protein Expression Regulates Lithogenic Diet-Induced Gallstone Formation and Dietary Cholesterol Metabolism in Mice
(SPRINGER HEIDELBERG, 2012)
Niemann-Pick C2 protein (NPC2) is a lysosomal soluble protein that is highly expressed in the liver; it binds to cholesterol and is involved in intracellular cholesterol trafficking, allowing the exit of lysosomal cholesterol ...
Lysosomal vitamin E accumulation in Niemann-Pick type C disease.
(2012)
Niemann-Pick C disease (NPC) is a neuro-visceral lysosomal storage disorder mainly caused by genetic defects in the NPC1 gene. As a result of loss of NPC1 function large quantities of free cholesterol and other lipids ...
Lysosomal vitamin E accumulation in Niemann-Pick type C disease.
(2012)
Niemann-Pick C disease (NPC) is a neuro-visceral lysosomal storage disorder mainly caused by genetic defects in the NPC1 gene. As a result of loss of NPC1 function large quantities of free cholesterol and other lipids ...
Increased copper levels in in vitro and in vivo models of Niemann-Pick C disease
(2012)
Niemann-Pick type C disease (NPC) is a hereditary neurovisceral atypical lipid storage disorder produced by mutations in the NPC1 and NPC2 genes. The disease is characterized by unesterified cholesterol accumulation in ...