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.

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

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

Animals, Free Full-Text

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

Sterol regulation of the expression and transcription of the

Sphingolipid biosynthetic pathway. Precursors, intermediates, and

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

Proposed pathological cascade in Niemann-Pick disease type C (NPC)

Quantitative imaging of membrane contact sites for sterol transfer between endo-lysosomes and mitochondria in living cells

Role of STARD4 and NPC1 in intracellular sterol transport

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

IJMS, Free Full-Text

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