A new regulatory mechanism of STARD1 in Niemann-Pick disease type C (NPC), discovered
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Descrição
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.
Lysosomal positioning diseases: beyond substrate storage
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Adaptations of Energy Metabolism Associated with Increased Levels of Mitochondrial Cholesterol in Niemann-Pick Type C1-deficient Cells* - Journal of Biological Chemistry
Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability - ScienceDirect
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Acid ceramidase improves mitochondrial function and oxidative stress in Niemann-Pick type C disease by repressing STARD1 expression and mitochondrial cholesterol accumulation - ScienceDirect
Oxidative stress: a pathogenic mechanism for Niemann-Pick type C disease. - Abstract - Europe PMC
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