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

• Asıl Yazarlar: Ulrika Simone Spangsberg Petersen (Yazar), Maja Dembic (Yazar), Ainhoa Martínez-Pizarro (Yazar), Eva Richard (Yazar), Lise Lolle Holm (Yazar), Jesper Foged Havelund (Yazar), Thomas Koed Doktor (Yazar), Martin Røssel Larsen (Yazar), Nils J. Færgeman (Yazar), Lourdes Ruiz Desviat (Yazar), Brage Storstein Andresen (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Elsevier, 2024-03-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

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...