CORDIS Project
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This project explores the cellular connection between Niemann-Pick C disease and Smith-Lemli-Opitz Syndrome, focusing on how sterol accumulation affects NPC1 protein function. It aims to develop therapies for SLOS based on insights from NPC treatments.
We have recently discovered a link at the cellular level between two rare pediatric diseases, Niemann-Pick C (NPC) and Smith-Lemli-Opitz Syndrome (SLOS). NPC is a disease where cholesterol and other lipids accumulate within the lysosome. SLOS is a multimalformation disease attributed to an inborn error of cholesterol synthesis, characterised by severe birth defects and neurological decline.
Our data suggests that accumulation of a sterol precursor in patient-derived SLOS cells functionally inhib…
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