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Article

Pre-mRNA splicing defects and RNA binding protein involvement in Niemann Pick type C disease.

Journal of biotechnology - 20 Jul 2020

Paron Francesca, Dardis Andrea, Buratti Emanuele

Abstract excerpt

Niemann-Pick type C (NPC) is an autosomal recessive lysosomal storage disorder due to mutations in NPC1 (95 % cases) or NPC2 genes, encoding NPC1 and NPC2 proteins, respectively. Both NPC1 and NPC2 proteins are involved in transport of intracellular cholesterol and their alteration leads to the accumulation of unesterified cholesterol and other lipids within the lysosomes. The disease is characterized by...

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Identifiers

PMID: 32387451
DOI: 10.1016/j.jbiotec.2020.03.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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