Niemann-Pick disease - Breda Genetics srl Breda Genetics srl

The eponym Niemann-Pick disease (NPD) encompasses two distinct metabolic defects. The first includes NPD types A and B and is due to deficiency of the acid sphingomyelinase (ASM) enzyme. The second defect, namely NPD type C, is mainly due to accumulation of unesterified cholesterol and glycosphingolipids within the late endosome/lysosome of all cells.

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

PDF) Weekly Treatment of 2-Hydroxypropyl-β-cyclodextrin Improves Intracellular Cholesterol Levels in LDL Receptor Knockout Mice

Niemann–Pick type C disease: cellular pathology and pharmacotherapy - Wheeler - 2020 - Journal of Neurochemistry - Wiley Online Library

Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis

Breda Genetics srl - ITALY (@Breda_Genetics) / X

Breda Genetics srl - ITALY (@Breda_Genetics) / X

Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression

Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

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Mitochondrial Cholesterol in Alzheimer's Disease and Niemann–Pick Type C Disease