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.

IJMS, Free Full-Text

IJMS, Free Full-Text

Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions - ScienceDirect

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

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

Rare Disease Day 2023 Sustainable Development Goals - Resource Centre

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

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

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

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

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