A disease-causing intronic point mutation C19G alters tau exon 10 splicing via RNA secondary structure rearrangement

• Main Authors: Tan, Jiazi, Yang, Lixia, Ong, Alan Ann Lerk, Shi, Jiahao, Zhong, Zhensheng, Lye, Mun Leng, Liu, Shiyi, Lisowiec-Wachnicka, Jolanta, Kierzek, Ryszard, Roca, Xavier, Chen, Gang
• Other Authors: School of Physical and Mathematical Sciences
• Format: Article
• Language: English
• Published: 2021
• Subjects: Science::Chemistry; Free Energy; Melting
• Online Access: https://hdl.handle.net/10356/150608
• Institution: Nanyang Technological University

Alternative splicing of MAPT cassette exon 10 produces tau isoforms with four microtubule-binding repeat domains (4R) upon exon inclusion or three repeats (3R) upon exon skipping. In human neurons, deviations from the ∼1:1 physiological 4R:3R ratio lead to frontotemporal dementia with Parkinsonism l...