Article
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.
Science advances - 12 Jul 2024
Früh Simon, Boudkkazi Sami, Koppensteiner Peter, Sereikaite Vita, Chen Li-Yuan, Fernandez-Fernandez Diego, Rem Pascal D, Ulrich Daniel, Schwenk Jochen, Chen Ziyang, Le Monnier Elodie, Fritzius Thorsten, Innocenti Sabrina M, Besseyrias Valérie, Trovò Luca, Stawarski Michal, Argilli Emanuela, Sherr Elliott H, van Bon Bregje, Kamsteeg Erik-Jan, Iascone Maria, Pilotta Alba, Cutrì Maria R, Azamian Mahshid S, Hernández-García Andrés, Lalani Seema R, Rosenfeld Jill A, Zhao Xiaonan, Vogel Tiphanie P, Ona Herda, Scott Daryl A, Scheiffele Peter, Strømgaard Kristian, Tafti Mehdi, Gassmann Martin, Fakler Bernd, Shigemoto Ryuichi, Bettler Bernhard
Abstract excerpt
Adherens junction-associated protein 1 (AJAP1) has been implicated in brain diseases; however, a pathogenic mechanism has not been identified. AJAP1 is widely expressed in neurons and binds to γ-aminobutyric acid type B receptors (GBRs), which inhibit neurotransmitter release at most synapses in the brain. Here, we show that AJAP1 is selectively expressed in dendrites and trans-synaptically recruits GBRs to...
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