Mitochondrial dysfunction in NPC1 ‐deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol‐binding proteins TSPO and StARD1

We examined two potential protein targets—translocator protein (TSPO) and steroidogenic acute regulatory protein D1 (StARD1)—which are implicated in cholesterol transport to mitochondria, in addition to glucocerbrosidase 2 (GBA2), the target of miglustat, which is currently the only approved treatment for NPCD. However, inhibiting these proteins did not correct the mitochondrial defect in NPC1-deficient cells.

Source: FEBS Letters - February 2, 2024 Category: Biochemistry Authors: Simon Wheeler, Meenakshi Bhardwaj, Victor Kenyon, Maria J. Ferraz, Johannes M. F. G. Aerts, Dan J. Sillence Tags: Communication Source Type: research