A new regulatory mechanism of STARD1 in Niemann-Pick disease type C (NPC), discovered

Researchers from the group Mitochondrial regulation of cell death and steatohepatitis have revealed a new role for acid ceramidase (ACDase) in experimental models and in patients with NPC through the regulation of STARD1 and its impact on mitochondrial function.

Novel Mutation in the Feline NPC2 Gene in Cats with Niemann–Pick Disease

Molecular mechanism(s) of neurodegeneration in Niemann-Pick type C disease - Ruđer Bošković Institute

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Mitochondrial dysfunction in fibroblasts derived from patients with Niemann-Pick type C disease - ScienceDirect

Elucidating the mechanism of cyclodextrins in the treatment of Niemann-Pick Disease Type C using crosslinked 2-hydroxypropyl-β-cyclodextrin

Crohn's Disease in Niemann–Pick Disease Type C1: Caught in the Cross-Fire of Host-Microbial Interactions

Immune dysfunction in Niemann‐Pick disease type C - Platt - 2016 - Journal of Neurochemistry - Wiley Online Library

Intracellular Cholesterol Transport Arteriosclerosis, Thrombosis, and Vascular Biology

Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability - ScienceDirect

Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

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Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene

Acid ceramidase improves mitochondrial function and oxidative stress in Niemann-Pick type C disease by repressing STARD1 expression and mitochondrial cholesterol accumulation - ScienceDirect