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.

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

From genes to hope

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

2-Hydroxypropyl-gamma-cyclodextrin overcomes NPC1 deficiency by enhancing lysosome-ER association and autophagy

Adaptations of Energy Metabolism Associated with Increased Levels of Mitochondrial Cholesterol in Niemann-Pick Type C1-deficient Cells* - Journal of Biological Chemistry

Lysosomal positioning diseases: beyond substrate storage

Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

Niemann–Pick disease type C1 (NPC1) is associated with early-onset

Intracellular Cholesterol Transport Arteriosclerosis, Thrombosis, and Vascular Biology

Cells, Free Full-Text