Search Results - "Lammertse, Hanna C.A."

A Single-Cell Model for Synaptic Transmission and Plasticity in Human iPSC-Derived Neurons by Meijer, Marieke, Rehbach, Kristina, Brunner, Jessie W., Classen, Jessica A., Lammertse, Hanna C.A., van Linge, Lola A., Schut, Desiree, Krutenko, Tamara, Hebisch, Matthias, Cornelisse, L. Niels, Sullivan, Patrick F., Peitz, Michael, Toonen, Ruud F., Brüstle, Oliver, Verhage, Matthijs

“…Synaptic dysfunction is associated with many brain disorders, but robust human cell models to study synaptic transmission and plasticity are lacking. Instead,…”
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Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission by Lammertse, Hanna C A, van Berkel, Annemiek A, Iacomino, Michele, Toonen, Ruud F, Striano, Pasquale, Gambardella, Antonio, Verhage, Matthijs, Zara, Federico

“…Heterozygous mutations in the STXBP1 gene encoding the presynaptic protein MUNC18-1 cause STXBP1 encephalopathy, characterized by developmental delay,…”
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Reduced dynamin-1 levels in neurons lacking MUNC18-1 by Lammertse, Hanna C A, Moro, Alessandro, Saarloos, Ingrid, Toonen, Ruud F, Verhage, Matthijs

“…MUNC18-1 (also known as syntaxin-binding protein-1, encoded by Stxbp1) binds to syntaxin-1. Together, these proteins regulate synaptic vesicle exocytosis and…”
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Power and optimal study design in iPSC-based brain disease modelling by Brunner, Jessie W., Lammertse, Hanna C. A., van Berkel, Annemiek A., Koopmans, Frank, Li, Ka Wan, Smit, August B., Toonen, Ruud F., Verhage, Matthijs, van der Sluis, Sophie

“…Studies using induced pluripotent stem cells (iPSCs) are gaining momentum in brain disorder modelling, but optimal study designs are poorly defined. Here, we…”
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Tyrosine phosphorylation of Munc18‐1 inhibits synaptic transmission by preventing SNARE assembly by Meijer, Marieke, Dörr, Bernhard, Lammertse, Hanna CA, Blithikioti, Chrysanthi, van Weering, Jan RT, Toonen, Ruud FG, Söllner, Thomas H, Verhage, Matthijs

“…Tyrosine kinases are important regulators of synaptic strength. Here, we describe a key component of the synaptic vesicle release machinery, Munc18‐1, as a…”
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STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG by Houtman, Simon J, Lammertse, Hanna C A, van Berkel, Annemiek A, Balagura, Ganna, Gardella, Elena, Ramautar, Jennifer R, Reale, Chiara, Møller, Rikke S, Zara, Federico, Striano, Pasquale, Misra-Isrie, Mala, van Haelst, Mieke M, Engelen, Marc, van Zuijen, Titia L, Mansvelder, Huibert D, Verhage, Matthijs, Bruining, Hilgo, Linkenkaer-Hansen, Klaus

“…syndrome is a rare neurodevelopmental disorder caused by heterozygous variants in the gene and is characterized by psychomotor delay, early-onset developmental…”
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Dysregulated Prefrontal Cortex Inhibition in Prepubescent and Adolescent Fragile X Mouse Model by Kramvis, Ioannis, van Westen, Rhodé, Lammertse, Hanna C. A., Riga, Danai, Heistek, Tim S., Loebel, Alex, Spijker, Sabine, Mansvelder, Huibert D., Meredith, Rhiannon M.

“…Changes in excitation and inhibition are associated with the pathobiology of neurodevelopmental disorders of intellectual disability and autism, and are widely…”
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Dysregulation of synaptic and developmental transcriptomic/proteomic profiles upon depletion of MUNC18-1 by Van Berkel, A A, Koopmans, F, Gonzalez-Lozano, M A, Lammertse, H C A, Feringa, F, Bryois, J, Sullivan, P F, Smit, A B, Toonen, R F, Verhage, M

“…Absence of presynaptic protein MUNC18-1 (gene: ) leads to neuronal cell death at an immature stage before synapse formation. Here, we performed transcriptomic…”
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