Sonlicromanol improves neuronal network dysfunction and transcriptome changes linked to m.3243A > G heteroplasmy in iPSC-derived neurons
Teun M. Klein Gunnewiek, Anouk H. A. Verboven, Iris Pelgrim…·Nael Nadif Kasri
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Radboud University Medical CenterORCID 0000-0003-1952-6865Unclaimed ORCID profile · follow to get notified of new preprints
7 papers
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Teun M. Klein Gunnewiek, Anouk H. A. Verboven, Iris Pelgrim…·Nael Nadif Kasri
Britt Mossink, Anouk H. A. Verboven, Eline van Hugte…·Monica Frega
The paper benchmarks MEA recordings from healthy hiPSC-derived neuronal networks to establish standards for experimental design and analysis, showing MEAs are robust for disease-phenotyping and drug discovery.
Katrin Linda, Elly Lewerissa, Anouk H. A. Verboven…·Nael Nadif Kasri
This study shows that KANSL1 deficiency leads to oxidative stress-induced autophagy, causing synaptic dysfunction and neuronal network impairments in neurons.
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.
Yan Shi, Jon-Ruben van Rhijn, Maren Bormann…·Nael Nadif Kasri
This study shows that MAOA dysfunction in Brunner syndrome leads to increased NMDAR activity and neuronal network hyperactivity in dopaminergic neurons.
Teun M. Klein Gunnewiek, Eline van Hugte, Monica Frega…·Tamás Kozicz
This study shows that mitochondrial dysfunction in human neurons, caused by high heteroplasmy of the m.3243A>G variant, leads to impaired neural development, reduced synaptic connectivity, and decreased network activity.
Monica Frega, Katrin Linda, Jason M. Keller…·Nael Nadif Kasri
This study shows that EHMT1 deficiency in human neurons leads to NMDAR hyperfunction, causing neuronal network dysfunction in Kleefstra syndrome, and demonstrates pharmacological rescue of these phenotypes.