Kirrel3-mediated synapse formation is attenuated by disease-associated missense variants
Matthew R. Taylor, E. Anne Martin, Brooke L. Sinnen, Rajdeep Trilokekar, Emmanuelle Ranza, Stylianos E. Antonarakis, Megan E. Williams
The paper tests disease-associated Kirrel3 missense variants and finds five attenuate synapse formation, suggesting Kirrel3's synaptogenic function is disrupted in autism and intellectual disability.
Journal of Neuroscience · Jun 5, 2020Peer-reviewedNeuroscience