Article

Genomic Modifiers of Neurological Resilience in a Niemann-Pick C family

2025-03-06

Abstract excerpt

Niemann-Pick type C (NPC) disease, caused by pathogenic variants in the NPC1 or NPC2 genes, disrupts cellular cholesterol and glycolipids trafficking. Patients exhibit a wide spectrum of visceral and neurological manifestations, suggesting a role for genomic modifiers. To uncover the genetic basis of NPC neurological resilience, we analyzed the exomes of an NPC family with diverse phenotypes, from very mild to sev...

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Literature Corpus work: cc3c9b15-2915-596f-b1e7-5fbbf257d319
DOI: 10.1101/2025.03.03.25321546

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