Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach

Authors: Sadhna Rao, Anastasiia Sadybekov, David C. DeWitt, Joanna Lipka, Vsevolod Katritch, Bruce E. Herring

Source: Molecular Autism, Vol 15, Iss 1, Pp 1-15 (2024)

Subject Terms: Glutamatergic neurotransmission, Autism spectrum disorders, Synaptic dysfunction, Missense mutations, TRIO-related disorders, Mutation modeling, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2040-2392

Access URL: https://doaj.org/article/e04f25582550489b9b9369030d6873fe

Positioning of AMPA Receptor-Containing Endosomes Regulates Synapse Architecture

Authors: Marta Esteves da Silva, Max Adrian, Philipp Schätzle, Joanna Lipka, Takuya Watanabe, Sukhee Cho, Kensuke Futai, Corette J. Wierenga, Lukas C. Kapitein, Casper C. Hoogenraad

Source: Cell Reports, Vol 13, Iss 5, Pp 933-943 (2015)

Subject Terms: synaptic plasticity, intracellular transport, AMPA receptors, dendritic spine, cytoskeleton, microtubule, actin, myosin, kinesin, KIF1C, myosinV, myosinVI, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124715011043; https://doaj.org/toc/2211-1247

Access URL: https://doaj.org/article/21093b42932a4bf1ba9c08b93abda438