Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles.

J Inherit Metab Dis · 2026 · PMC13080411 · PMID 41982147

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The I1061T substitution, which was found to be retained in the ER and exhibited the most severe biochemical profile, resulted in a highly significant decrease in flotillin‐2 distribution in the LRs, suggesting a profound disruption of LRs formation.

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