Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of
several components of lysosomal function. Most commonly affected are lysosomal …

Disturbances of lipid homeostasis in cells provoke human diseases. The elucidation of the
underlying mechanisms and the development of efficient therapies represent formidable …

Results: The literature review revealed a total of 33,186 publications. The top three active
countries were found to be the USA (7362), Japan (2987), and the UK (1994). A positive and …

Niemann–Pick disease, type C1 (NPC1) is a lysosomal disease characterized by
endolysosomal storage of unesterified cholesterol and decreased cellular cholesterol …

Selective neuronal vulnerability in neurodegenerative disease is poorly understood. Using
the ATXN1 [82Q] model of spinocerebellar ataxia type 1 (SCA1), we explored the hypothesis …

Neuronal apoptosis regulated convertase-1 (NARC-1), now mostly known as proprotein
convertase subtilisin/kexin type 9 (PCSK9), has received a lot of attention due to the fact that …

The rare, fatal neurodegenerative disorder Niemann-Pick disease type C1 (NPC1) arises
from lysosomal accumulation of unesterified cholesterol and glycosphingolipids. These …

Purkinje cells are the primary processing units of the cerebellar cortex and display molecular
heterogeneity that aligns with differences in physiological properties, projection patterns …

The loss of NPC1 or NPC2 function results in cholesterol and sphingolipid dyshomeostasis
that impairs developmental trajectories, predisposing the postnatal brain to the appearance …

Niemann–Pick disease type C1 (NPC1) is a rare, prematurely fatal lysosomal storage
disorder which exhibits highly variable severity and disease progression as well as a wide …