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.

Early steps in steroidogenesis: intracellular cholesterol trafficking. - Abstract - Europe PMC

Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease - ScienceDirect

Niemann-Pick type C disease: The atypical sphingolipidosis. - Abstract - Europe PMC

A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1, BMC Biology

ACDase overexpression in fibroblasts from NPC patients. Fibroblasts

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

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

Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin - ScienceDirect

Sterol regulation of the expression and transcription of the

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

NPC1 - Wikipedia

Lysosomal positioning diseases: beyond substrate storage