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

doi:10.1016/j.jbiotec.2020.03.012

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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...

Topics

Cholesterol
Humans
Intracellular Signaling Peptides and Proteins
Lysosomes
Mutation
Neurodegenerative Diseases
Niemann-Pick C1 Protein
Niemann-Pick Disease, Type C
RNA
RNA Processing, Post-Transcriptional
RNA-Binding Proteins
Vesicular Transport Proteins

Source

Open in PubMed

Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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