ORMDL MISLOCALIZATION BY IMPAIRED AUTOPHAGY IN NIEMANN-PICK TYPE C DISEASE LEADS TO INCREASED DE NOVO SPHINGOLIPID BIOSYNTHESIS

Restoration of autophagic flux with N-acetyl-L-leucine in NPC1 deleted cells decreases ORMDL accumulation in autophagosomes and reduces accumulation of sphingolipids and their de novo biosynthesis. his work uncovered a previously unknown link between sphingolipid accumulation, ORMDL and autophagic defects present in NCP1 disease, in addition to providing further evidence and mechanistic insight for the beneficial role of NALL treatment for NPC disease.

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