Article
Functional sQTLs regulating PTK2B exon 31 splicing uncover an RNA-dependent modulation of its kinase activity and cellular phenotype.
Cell communication and signaling : CCS - 2 Apr 2026
Kato Masahide, Isazawa Ayaka, Ohki Ai, Fujita Akari, Araki Makoto, Yanaizu Motoaki, Kino Yoshihiro
Abstract excerpt
BACKGROUND: Genome-wide association studies have shown that polymorphisms in PTK2B (Protein Tyrosine Kinase 2 Beta), encoding the calcium-sensitive tyrosine kinase PYK2 (Proline-rich tyrosine kinase 2), are associated with an increased risk of Alzheimer’s disease (AD). However, it remains unclear which genetic variants of PTK2B are functionally important. A recent transcriptome-wide association study has...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
