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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 ...
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 ...
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 ...
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 ...
Oxidative Stress: A Pathogenic Mechanism for Niemann-Pick Type C Disease
(2012)
Niemann-Pick type C (NPC) disease is a neurovisceral atypical lipid storage disorder involving the accumulation of cholesterol and other lipids in the late endocytic pathway. The pathogenic mechanism that links the ...
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 ...