Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation
oleh: Jun Sung Park, Junehawk Lee, Eun Sun Jung, Myeong-Heui Kim, Il Bin Kim, Hyeonju Son, Sangwoo Kim, Sanghyeon Kim, Young Mok Park, Inhee Mook-Jung, Seok Jong Yu, Jeong Ho Lee
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2019-07-01 |
Deskripsi
The role of brain somatic mutations in neurodegenerative diseases such as Alzheimer’s disease (AD) is not well understood. Here the authors carry out high-depth exome sequencing ~500× on brain tissue from patients with AD and controls, and identify mutations in a number of genes that are known to contribute to phosphorylation and aggregation of tau, including PIN1.