Lysosomal storage diseases (LSDs), of which about 50 are known, are caused by the
defective activity of lysosomal proteins, resulting in accumulation of unmetabolized …

Niemann–Pick type C disease (NPCD) was first described in 1914 and affects approximately
1 in 150 000 live births. It is characterized clinically by diverse symptoms affecting liver …

Niemann-Pick type C1 (NPC1) disease is a rare progressive neurodegenerative disorder
characterized by accumulation of cholesterol in the endolysosomes. Previous studies …

Niemann-Pick type C1 (NPC1) disease is a rare, progressively fatal neurodegenerative
disease for which there are no FDA-approved therapies. A major barrier to developing new …

Niemann-Pick disease type C (NP-C) is a neurovisceral lysosomal cholesterol trafficking
and lipid storage disorder caused by mutations in one of the two genes, NPC1 or NPC2 …

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

The genetic basis of Alzheimer's disease (AD) is complex and heterogeneous. Over 200
highly penetrant pathogenic variants in the genes APP, PSEN1, and PSEN2 cause a subset …

Lysosome dysfunction is a shared feature of rare lysosomal storage diseases and common
age-related neurodegenerative diseases. Microglia, the brain-resident macrophages, are …

Niemann–Pick disease type C (NPC) is a lysosomal storage disorder characterized by liver
disease and progressive neurodegeneration. Deficiency of either NPC1 or NPC2 leads to …

Niemann‐Pick type C (NPC) disease is a fatal autosomal recessive disorder characterized
by the accumulation of free cholesterol and glycosphingolipids in the endosomal‐lysosomal …