Abstract Objective Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive,
neurodegenerative disease associated with a wide variety of progressive neurological …

The adult mammalian cerebellar cortex is generally assumed to have a uniform
cytoarchitecture. Differences in cerebellar function are thought to arise primarily through …

Niemann–Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by
mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases) …

Cells in the mammalian body must accurately maintain their content of cholesterol, which is
an essential membrane component and precursor for vital signalling molecules. Outside the …

Dysregulation of cholesterol homeostasis in the brain is increasingly being linked to chronic
neurodegenerative disorders, including Alzheimer's disease (AD), Huntington's disease …

Background Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder
caused most commonly by a defect in the NPC1 protein and characterized by widespread …

Niemann-Pick type C disease is largely attributable to an inactivating mutation of NPC1
protein, which normally aids movement of unesterified cholesterol (C) from the …

Cellular diversification is critical for specialized functions of the brain including learning and
memory. Single-cell RNA sequencing facilitates transcriptomic profiling of distinct major …

Niemann-Pick type C (NPC) disease is a lysosomal storage disease in which endocytosed
cholesterol becomes sequestered in late endosomes/lysosomes (LEs/Ls) because of …

Genetic deficiency of NPC1 or NPC2 results in a devastating cholesterol-
glycosphingolipidosis of brain and other organs known as Niemann–Pick type C (NPC) …