Article

Neurodegeneration in the olfactory system in Niemann Pick type C1 disease

2025-11-25

Abstract excerpt

Niemann-Pick type C1 (NPC1) disease is a rare neurodegenerative disorder linked to defective cholesterol biosynthesis and altered lipid regulation. In patients, the most common variant in the Npc1 gene is a missense mutation that leads to a misfolded and non-functional NPC1 protein. We used a mouse model carrying this mutation (I1061T, Npc1 tm(I1061T)Dso ) to investigate the olfactory system since olfaction is o...

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Literature Corpus work: b0df015e-c02d-511d-b92d-7ca4ef09a166
DOI: 10.1101/2025.11.22.689959

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