Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome
Anouk H. A. Verboven, Sofía Puvogel, Brooke L. Latour…·Nael Nadif Kasri
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Radboud University NijmegenORCID 0009-0009-8704-3743Unclaimed ORCID profile · follow to get notified of new preprints
7 papers
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Anouk H. A. Verboven, Sofía Puvogel, Brooke L. Latour…·Nael Nadif Kasri
Colette Moses, Angelica Vanini, Maria Chiara Bocchi…·Frank M. J. Jacobs
The paper identifies fusion transcripts in human brain tissues, showing they are enriched in segmental duplication hotspots and contribute to inter-individual expression differences.
Emma Dyke, Sofía Puvogel, Astrid R. Oudakker…·Nael Nadif Kasri
This study identifies primary cilia as regulators of neuronal homeostatic plasticity, showing they dynamically change volume in response to activity levels and that ciliary dysfunction impairs multiple aspects of homeostasis.
Jolanthe Lingeman, Diana van den Heuvel, Jeroen van den Berg…·Haico van Attikum
This study shows the NSL complex prevents R-loop induced replication stress during neural development, leading to developmental abnormalities when disrupted.
Alice Buonfiglioli, Raphael Kübler, Roy D. Missall…·Lot D. de Witte
This paper introduces a cerebral organoid model with integrated microglia to study how inflammatory stimuli and microglial presence affect neurodevelopment and neurodevelopmental disorders.
Britt Mossink, Jon-Ruben van Rhijn, Shan Wang…·Nael Nadif Kasri
This study investigates the role of CDH13 in regulating GABAergic inhibition in human-derived neuronal networks and shows its impact on E/I balance.
Brooke L. Latour, Julie Craft Van De Weghe, Tamara D. S. Rusterholz…·Dan Doherty
This study identifies a JBTS-associated protein module involving ARMC9 and TOGARAM1 that regulates ciliary stability and post-translational modifications.