caa a22 4500 606202587 CHVBK 20210128100953.0 cr unu---uuuuu 210128e20150701xx s 000 0 eng 10.1007/s00429-014-0766-0 doi (NATIONALLICENCE)springer-10.1007/s00429-014-0766-0 Tomosyn-2 is required for normal motor performance in mice and sustains neurotransmission at motor endplates [Elektronische Daten] [Cornelia Geerts, Jaap Plomp, Bastijn Koopmans, Maarten Loos, Elizabeth van der Pijl, Martin van der Valk, Matthijs Verhage, Alexander Groffen] Tomosyn-1 (STXBP5) is a soluble NSF attachment protein receptor complex-binding protein that inhibits vesicle fusion, but the role of tomosyn-2 (STXBP5L) in the mammalian nervous system is still unclear. Here we generated tomosyn-2 null (Tom2KO/KO) mice, which showed impaired motor performance. This was accompanied by synaptic changes at the neuromuscular junction, including enhanced spontaneous acetylcholine release frequency and faster depression of muscle motor endplate potentials during repetitive stimulation. The postsynaptic geometric arrangement and function of acetylcholine receptors were normal. We conclude that tomosyn-2 supports motor performance by regulation of transmitter release willingness to sustain synaptic strength during high-frequency transmission, which makes this gene a candidate for involvement in neuromuscular disorders. Springer-Verlag Berlin Heidelberg, 2014 Neuromuscular junction nationallicence Release willingness nationallicence Short-term plasticity nationallicence STXBP5L nationallicence Synaptic transmission nationallicence Tomosyn-2 nationallicence Geerts Cornelia Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Neuroscience Campus Amsterdam, VU University, 1081 HV, Amsterdam, The Netherlands aut Plomp Jaap Department of Neurology, Leiden University Medical Centre, PO Box 9600, 2300 RC, Leiden, The Netherlands aut Koopmans Bastijn Sylics (Synaptologics BV), PO Box 71033, 1008 BA, Amsterdam, The Netherlands aut Loos Maarten Sylics (Synaptologics BV), PO Box 71033, 1008 BA, Amsterdam, The Netherlands aut van der Pijl Elizabeth Department of Neurology, Leiden University Medical Centre, PO Box 9600, 2300 RC, Leiden, The Netherlands aut van der Valk Martin Department of Experimental Animal Pathology, Antoni van Leeuwenhoek-Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands aut Verhage Matthijs Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Neuroscience Campus Amsterdam, VU University, 1081 HV, Amsterdam, The Netherlands aut Groffen Alexander Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Neuroscience Campus Amsterdam, VU University, 1081 HV, Amsterdam, The Netherlands aut Brain Structure and Function Springer Berlin Heidelberg 220/4(2015-07-01), 1971-1982 1863-2653 220:4<1971 2015 220 429 https://doi.org/10.1007/s00429-014-0766-0 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00429-014-0766-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Geerts Cornelia Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Neuroscience Campus Amsterdam, VU University, 1081 HV, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Plomp Jaap Department of Neurology, Leiden University Medical Centre, PO Box 9600, 2300 RC, Leiden, The Netherlands aut NATIONALLICENCE 700 1- Koopmans Bastijn Sylics (Synaptologics BV), PO Box 71033, 1008 BA, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Loos Maarten Sylics (Synaptologics BV), PO Box 71033, 1008 BA, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- van der Pijl Elizabeth Department of Neurology, Leiden University Medical Centre, PO Box 9600, 2300 RC, Leiden, The Netherlands aut NATIONALLICENCE 700 1- van der Valk Martin Department of Experimental Animal Pathology, Antoni van Leeuwenhoek-Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Verhage Matthijs Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Neuroscience Campus Amsterdam, VU University, 1081 HV, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Groffen Alexander Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Neuroscience Campus Amsterdam, VU University, 1081 HV, Amsterdam, The Netherlands aut NATIONALLICENCE 773 0- Brain Structure and Function Springer Berlin Heidelberg 220/4(2015-07-01), 1971-1982 1863-2653 220:4<1971 2015 220 429