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.
Niemann–Pick Disease Type C
Niemann-Pick type C disease: The atypical sphingolipidosis. - Abstract - Europe PMC
NPC1 enables cholesterol mobilization during long‐term potentiation that can be restored in Niemann–Pick disease type C by CYP46A1 activation
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Niemann-Pick-C desease - CERMO-FC
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium
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