Widespread dysregulation of mRNA splicing implicates RNA processing in the development and progression of Huntington's disease

• Main Authors: Tano, Vincent, Utami, Kagistia Hana, Nur Amirah Binte Mohammad Yusof, Bégin, Jocelyn, Tan, Willy Wei Li, Pouladi, Mahmoud A., Langley, Sarah Raye
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2023
• Subjects: Science::Medicine; Huntington’s Disease; Alternative Splicing
• Online Access: https://hdl.handle.net/10356/171690
• Institution: Nanyang Technological University

Background: In Huntington's disease (HD), a CAG repeat expansion mutation in the Huntingtin (HTT) gene drives a gain-of-function toxicity that disrupts mRNA processing. Although dysregulation of gene splicing has been shown in human HD post-mortem brain tissue, post-mortem analyses are likely c...