Rare missense variants of the leukocyte common antigen related receptor (LAR) display reduced activity in transcellular adhesion and synapse formation
Mathias Kaas Ollendorff, Nicolas Chofflet, Deniz Bicer, Sune Skeldal, Jinjie Duan, Benjamin Feller, Joachim Vilstrup, Rosa Groth, Suganya Sivagurunathan, Hesam Dashti, Jan Skov Pedersen, Thomas Mears Werge, Anders Dupont Børglum, Beth A. Cimini, Thouis R. Jones, , Simon Glerup
The paper identifies rare missense variants in LAR that destabilize the extracellular domain, disrupt LAR:NGL-3 interactions, and impair synaptic adhesion and synaptogenesis.
bioRxiv · Feb 16, 2025 · PreprintNeuroscience