Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia

Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia

Pseudoexons are nonfunctional intronic sequences that can be activated by deep-intronic sequence variation. Activation increases pseudoexon inclusion in mRNA and interferes with normal gene expression. The PCCA c.1285-1416A>G variation activates a pseudoexon and causes the severe metabolic disord...

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Bibliographic Details
Main Authors: Ulrika Simone Spangsberg Petersen, Maja Dembic, Ainhoa Martínez-Pizarro, Eva Richard, Lise Lolle Holm, Jesper Foged Havelund, Thomas Koed Doktor, Martin Røssel Larsen, Nils J. Færgeman, Lourdes Ruiz Desviat, Brage Storstein Andresen
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Molecular Therapy: Nucleic Acids
Subjects:
MT: Oligonucleotides: Therapies and Applications
pre-mRNA splicing
cryptic splicing
pseudoexon
splice-switching antisense oligonucleotides
PCCA
Online Access:http://www.sciencedirect.com/science/article/pii/S2162253123003190

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http://www.sciencedirect.com/science/article/pii/S2162253123003190

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