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.

Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

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

Niemann‐Pick type C disease: molecular mechanisms and potential therapeutic approaches - Rosenbaum - 2011 - Journal of Neurochemistry - Wiley Online Library

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

Consensus clinical management guidelines for Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

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

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

Niemann-Pick disease type C

Biomolecules, Free Full-Text

UPR analysis in NPC mice cerebellum. a NPC and wildtype (WT) mice were

STARD1 and NPC1 expression as pathological markers associated with astrogliosis in post-mortem brains from patients with Alzheimer's disease and Down syndrome

The pathogenesis of Niemann–Pick type C disease: a role for autophagy?, Expert Reviews in Molecular Medicine