Article

mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblasts

2022-02-24

Abstract excerpt

Messenger RNA (mRNA) holds great potential as a disease-modifying treatment for a wide array of monogenic disorders. Niemann-Pick disease type C1 (NP-C1) is an ultra-rare monogenic disease that arises due to loss-of-function mutations in the NPC1 gene, resulting in the entrapment of unesterified cholesterol in the lysosomes of affected cells and a subsequent reduction in their capacity for cholesterol esterificat...

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Literature Corpus work: 785e8141-4012-5f6b-919b-5a074cb86f77
DOI: 10.1101/2022.02.21.479058

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