Publications

Research from our lab investigating synaptic mechanisms in neurodevelopmental disorders.

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Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders

Kim N Wijnant, Nael Nadif Kasri, Lisenka E L M Vissers

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability

Hommersom MP, Doorn N, Puvogel S, Lewerissa EI, Mordelt A, Ciptasari U, Kampshoff F, Dillen L, van Beusekom E, Oudakker A, Kogo N, Dolga AM, Frega M, Schubert D, van de Warrenburg BPC, Nadif Kasri N, van Bokhoven H.

Human Pluripotent Stem Cell-Derived Astrocyte Functionality Compares Favorably with Primary Rat Astrocytes

Lendemeijer B, Unkel M, Smeenk H, Mossink B, Hijazi S, Gordillo-Sampedro S, Shpak G, Slump DE, van den Hout MCGN, van IJcken WFJ, Bindels EMJ, Hoogendijk WJG, Nadif Kasri N, de Vrij FMS, Kushner SA.

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models

Radenkovic S, Budhraja R, Klein-Gunnewiek T, King AT, Bhatia TN, Ligezka AN, Driesen K, Shah R, Ghesquière B, Pandey A, Kasri NN, Sloan SA, Morava E, Kozicz T.

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment

Bhattacharjee R, Jolly LA, Corbett MA, Wee IC, Rao SR, Gardner AE, Ritchie T, van Hugte EJH, Ciptasari U, Piltz S, Noll JE, Nazri N, van Eyk CL, White M, Fornarino D, Poulton C, Baynam G, Collins-Praino LE, Snel MF, Nadif Kasri N, Hemsley KM, Thomas PQ, Kumar R, Gecz J.

SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes

van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N.

A human in vitro neuronal model for studying homeostatic plasticity at the network level

Yuan , Puvogel S, van Rhijn JR, Ciptasari U, Esteve-Codina A, Meijer M, Rouschop S, van Hugte EJH, Oudakker A, Schoenmaker C, Frega M, Schubert D, Franke B, Nadif Kasri N.

Sialic acid biosynthesis pathway blockade disturbs neuronal network formation in human iPSC-derived excitatory neurons

Mijdam R, Bijnagte-Schoenmaker C, Dyke E, Moons SJ, Boltje TJ, Nadif Kasri N, Lefeber DJ.

Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders

Lewerissa EI, Nadif Kasri N, Linda K.

An in silico and in vitro human neuronal network model reveals cellular mechanisms beyond NaV1.1 underlying Dravet syndrome

Doorn N, van Hugte EJH, Ciptasari U, Mordelt A, Meijer HGE, Schubert D, Frega M, Nadif Kasri N, van Putten MJAM.

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks

Teunissen MWA, Lewerissa E, van Hugte EJH, Wang S, Ockeloen CW, Koolen DA, … Nadif Kasri N.

Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at 16q11.2 and MAPT H1 loci

Soutar MPM, Melandri D, O’Callaghan B, Annuario E, Monaghan AE, Welsh NJ, D’Sa K, Guelfi S, Zhang D, Pittman A, Trabzuni D, Verboven AHA, Pan KS, Kia DA, Bictash M, Gandhi S, Houlden H, Cookson MR, Kasri NN, Wood NW, Singleton AB, Hardy J, Whiting PJ, Blauwendraat C, Whitworth AJ, Manzoni C, Ryten M, Lewis PA, Plun-Favreau H.

The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes

Gerosa L, Mazzoleni S, Rusconi F, Longaretti A, Lewerissa E, Pelucchi S, Murru L, Giannelli SG, Broccoli V, Marcello E, Kasri NN, Battaglioli E, Passafaro M, Bassani S

Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway

Wang S, Rhijn JV, Akkouh I, Kogo N, Maas N, Bleeck A, Ortiz IS, Lewerissa E, Wu KM, Schoenmaker C, Djurovic S, van Bokhoven H, Kleefstra T, Nadif Kasri N, Schubert D.

Brunner syndrome associated MAOA mutations result in NMDAR hyperfunction and increased network activity in human dopaminergic neurons

van Rhijn JR, Shi Y, Bormann M, Mossink B, Frega M, Recaioglu H, Hakobjan M, Klein Gunnewiek T, Schoenmaker C, Palmer E, Faivre L, Kittel-Schneider S, Schubert D, Brunner H, Franke B, Nadif Kasri N.

SETD1A Mediated H3K4 Methylation and Its Role in Neurodevelopmental and Neuropsychiatric Disorders

Wang S, Bleeck A, Nadif Kasri N, Kleefstra T, van Rhijn JR, Schubert D.

Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro

Britt Mossink,Anouk H.A. Verboven,Eline J.H. van Hugte,Teun M. Klein Gunnewiek,Giulia Parodi,Katrin Linda,Chantal Schoenmaker,Tjitske Kleefstra,Tamas Kozicz,Hans van Bokhoven,Dirk Schubert,Nael Nadif Kasri,Monica Frega

Sonlicromanol improves neuronal netwrok dysfunction and transcriptome changes linked to m.3243A>G heteroplasmy in IPSC-derived neurons

Teun M. Klein Gunnewiek,Anouk H.A. Verboven,Iris Pelgrim,Mark Hogeweg,Chantal Schoenmaker,Herma Renkema,Julien Beyrath,Jan Smeitink,Bert B.A. de Vries,Peter-Bram A.C. ’t Hoen,Tamas Kozicz,Nael Nadif Kasri

Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders

Linda K, Lewerissa EI, Verboven AHA, Gabriele M, Frega M, Klein Gunnewiek TM, Devilee L, Ulferts E, Hommersom M, Oudakker A, Schoenmaker C, van Bokhoven H, Schubert D, Testa G, Koolen DA, de Vries BBA, Nadif Kasri N.

Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks

Mossink B, van Rhijn JR, Wang S, Linda K, Vitale MR, Zöller JEM, van Hugte EJH, Bak J, Verboven AHA, Selten M, Negwer M, Latour BL, van der Werf I, Keller JM, Klein Gunnewiek TM, Schoenmaker C, Oudakker A, Anania A, Jansen S, Lesch KP, Frega M, van Bokhoven H, Schubert D, Nadif Kasri N.

Generation of induced pluripotent stem cell (iPSC) lines carrying a heterozygous (UKWMPi002-A-1) and null mutant knockout (UKWMPi002-A-2) of Cadherin 13 associated with neurodevelopmental disorders using CRISPR/Cas9

Vitale MR, Zöller JEM, Jansch C, Janz A, Edenhofer F, Klopocki E, van den Hove D, Vanmierlo T, Rivero O, Nadif Kasri N, Ziegler GC, Lesch KP.

Cell type-specific changes in transcriptomic profiles of endothelial cells, iPSC-derived neurons and astrocytes cultured on microfluidic chips

Middelkamp HHT, Verboven AHA, De Sá Vivas AG, Schoenmaker C, Klein Gunnewiek TM, Passier R, Albers CA, ’t Hoen PAC, Nadif Kasri N, van der Meer AD.

Comparison of induced neurons reveals slower structural and functional maturation in humans than in apes

Schörnig M, JuX, Fast L, Ebert S, Weigert A, Kanton S, Schaffer T, Nadif Kasri N, Treutlein B, Peter BM, Hevers W, Taverna E

The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective

Mossink B, Negwer M, Schubert D, Nadif Kasri N.

EHMT1 regulates Parvalbumin-positive interneuron development and GABAergic input in sensory cortical areas

Negwer M, Piera K, Hesen R, Lütje L, Aarts L, Schubert D, Nadif Kasri N.

The Object Space Task reveals increased expression of cumulative memory in a mouse model of Kleefstra syndrome

Evelien H.S. Schut, Alejandra Alonso, Steven Smits, Mehdi Khamassi, Anumita Samanta, Moritz Negwer, Nael Nadif Kasri, Irene Navarro Lobato, Lisa Genzel

m.3243A>G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity

Klein Gunnewiek TM, Van Hugte EJH, Frega M, Guardia GS, Foreman K, Panneman D, Mossink B, Linda K, Keller JM, Schubert D, Cassiman D, Rodenburg R, Vidal Folch N, Oglesbee D, Perales-Clemente E, Nelson TJ, Morava E, Nadif Kasri N, Kozicz T

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

Frega M, Selten M, Mossink B, Keller JM, Linda K, Moerschen R, Qu J, Koerner P, Jansen S, Oudakker A, Kleefstra T, van Bokhoven H, Zhou H, Schubert D, Nadif Kasri N.

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling

Frega M, Linda K, Keller JM, Gümüş-Akay G, Mossink B, van Rhijn JR, Negwer M, Klein Gunnewiek T, Foreman K, Kompier N, Schoenmaker C, van den Akker W, van der Werf I, Oudakker A, Zhou H, Kleefstra T, Schubert D, van Bokhoven H, Nadif Kasri N.

Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia

Iqbal Z, Tawamie H, Ba W, Reis A, Halak BA, Sticht H, Uebe S, Kasri NN, Riazuddin S, van Bokhoven H, Abou Jamra R

ONECUT transcription factors induce neuronal characteristics and remodel chromatin accessibility

J van der Raadt, S. van Gestel, N. Nadif Kasri and C.A. Albers

Foxp2 loss of function increases striatal direct pathway inhibition via increased GABA release

van Rhijn J-R, Fisher S, Vernes S and Nadif Kasri N

Basolateral amygdala noradrenergic activity is required for enhancement of object recognition memory by histone deacetylase inhibition in the anterior insular cortex

Chen Y, Barsegyan A, Kasri NN, Roozendaal B

Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome

Iacono, G., Dubos, A., Meziane, H., Benevento, M., Habibi, E., Mandoli, A., Riet F, Selloum M, Feil R, Zhou H, Kleefstra T, Kasri NN, van Bokhoven H, Herault Y, Stunnenberg HG

Inhibitory control of the excitatory/inhibitory balance in psychiatric disorders

Martijn Selten, Hans van Bokhoven and Nael Nadif Kasri

Integrated transcriptional analysis unveils the dynamics of cellular differentiation in the developing mouse hippocampus

Iacono G, Benevento M, Dubos A, Herault Y, van Bokhoven H, Nadif Kasri N, Stunnenberg HG

The promise of induced pluripotent stem cells for neurodevelopmenatl disorders

Linda K, Fluza C, Nadif Kasri N

Epigenetic Etiology of Intellectual Disability

Shigeki Iwase, Nathalie G. Bérubé, Zhaolan Zhou, Nael Nadif Kasri, Elena Battaglioli, Marilyn Scandaglia and Angel Barco

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition

Arbogast T, Iacono G, Chevalier C, Afinowi NO, HoubaertX , van Eede MC, Laliberte C, Birling MC, Linda K, Meziane H, Selloum M, Sorg T, Nadif Kasri N, Koolen DA, Stunnenberg HG, Henkelman RM, Kopanitsa M, Humeau Y, De Vries BBA, Herault Y

Basal ryanodine receptor activity suppresses autophagic flux

Vervliet T, Pintelon I, Welkenhuyzen K, Bootman MD, Bannai H, Mikoshiba K, Martinet W, Nadif Kasri N, Parys JB, Bultynck G.

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

Ung DC, Iacono G, Méziane H, Blanchard E, Papon MA, Selten M, van Rhijn JR, Montjean R, Rucci J, Martin S, Fleet A, Birling MC, Marouillat S, Roepman R, Selloum M, Lux A, Thépault RA, Hamel P, Mittal K, Vincent JB, Dorseuil O, Stunnenberg HG, Billuart P, Nadif Kasri N, Hérault Y, Laumonnier F.

Reduced Inhibition within Layer IV of Sert Knockout Rat Barrel Cortex is Associated with Faster Sensory Integration

Stéphanie Miceli, Nael Nadif Kasri, Joep Joosten, Chao Huang, Lara Kepser, Rémi Proville, Martijn M. Selten, Fenneke van Eijs, Alireza Azarfar, Judith R. Homberg, Tansu Celikel and Dirk Schubert

Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation

M Benevento, C Oomen, A Horner, H Amiri, T Jacobs, C Pauwels, M Frega, T Kleefstra, M Kopanitsa, S Grant, T Bussey, L Saksida, C Van der Zee, H van Bokhoven, J Glennon & N Nadif Kasri

Rapid neuronal differentiation of induced pluripotent stem cells for measuring network activity on micro-electrode arrays

Frega M, van Gestel SH, Linda K, van der Raadt J, Keller J, Van Rhijn JR, Schubert D, Albers CA, Nadif Kasri N.

Euchromatin histone methyltransferase 1 regulates cortical neural network development

Martens M, Frega M, Classen J, Epping L, Bijvank E, Benevento M, van Bokhoven H, Tiesinga P, Schubert D, Nadif Kasri N.

Increased GABAB receptor signaling in a rat model for schizophrenia

Selten MM, Meyer F, Ba W, Vallès A, Maas DA, Negwer M, Eijsink VD, van Vugt RW, van Hulten JA, van Bakel NH, Roosen J, van der Linden RJ, Schubert D, Verheij MM, Kasri NN, Martens GJ.

Histone methylation by the Kleefstra syndrome protein EHMT1 mediates homeostatic synaptic scaling

Benevento M, Iacono G, Selten M, Ba W, Oudakker A, Frega M, Keller J, Mancini M, Lewerissa E, Kleefstra T, Stunnenberg HG, Zhou H, van Bokhoven H and Nadif Kasri N.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with 17q21.31 micodeletion versus a KANSL1 sequence variant

Koolen DA et al

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

Ba W, Yan Y, Reijnders MR, Schuurs-Hoeijmakers JH, Feenstra I, Bongers EM, Bosch DG, de Leeuw N, Pfundt R, Gilissen C, de Vries PF Veltman JA, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Nadif Kasri N*, de Vries BB

Choices for induction of pluripotency – Recent developments in human induced pluripotent stem cell reprogramming strategies

Brouwer M, Zhou H, Nadif Kasri N

ARHGAP12 functions as a developmental brake on excitatory synapse function

Ba W, Selten MM, van der Raadt J, van Veen H, Li LL, Benevento M, Oudakker AR, Lasabuda RSE, Letteboer SJ, Roepman R, van Wezel RJA, Courtney MJ, van Bokhoven H and Nadif Kasri N.

Cadherin-13, a risk gene for neurodevelopmental and psychiatric disorders, impacts cognition and GABAergic function in hippocampus

Rivero O, Selten M, Sich S, Popp S, Bacmeister L, Amendola E, Negwer M, Schubert D, Proft F, Kiser D, Schmitt A, Gross C, Kolk SM, Strekalova T, van den Hove D, J. Resink T, Nael Nadif Kasri#, Klaus-Peter Lesch

The role of chromatin repressive marks in cognition and disease: A focus on the repressive complex GLP/G9a

Benevento M, van de Molengraft M, van Westen R, van Bokhoven H, Nadif Kasri N

MicroRNA-137 Controls AMPA-Receptor Mediated Transmission and mGluR-dependent LTD

Nikkie FM Olde Loohuis, Wei Ba, Peter Stoerchel, Aron Kos Amanda Jager, Gerhard Schratt, Gerard JM Martens, Hans van Bokhoven, Nael Nadif Kasri, Armaz Aschrafi

Unexpected Heterodivalent Recruitment of NOS1AP to nNOS Reveals Multiple Sites for Pharmacological Intervention in Neuronal Disease Models

Li LL, Melero-Fernandez de Mera RM, Chen J, Ba W, Kasri NN, Zhang M, Courtney MJ

Ryanodine receptors are targeted by anti-apoptotic Bcl-XL involving its BH4 domain and Lys87 from its BH3 domain

Vervliet T, Lemmens I, Vandermarliere E, Decrock E, Ivanova H, Monaco G, Sorrentino V, Kasri NN, Missiaen L, Martens L, De Smedt H, Leybaert L, Parys JB, Tavernier J, Bultynck G.

Homozygous mutations in SLC6A17 cause autosomal recessive intellectual disability, with progressive tremor, speech impairment, and behavioral problems

Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LELM, de Brouwer APM, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif Kasri N, Najmabadi H, Laumonnier F, Kleefstra T, van Bokhoven H.

Protein tyrosine phosphatase receptor type R is required for Purkinje cell responsiveness in cerebellar long-term depression

Erkens M, Tanaka-Yamamoto K, Cheron G, Márquez-Ruiz J, Prigogine C, Schepens J, Nadif Kasri N, Augustine GJ, Hendriks W.

The X-linked Mental Retardation Protein OPHN1 Interacts with Homer1b/c to Control Spine Endocytic Zone Positioning and Expression of Synaptic Potentiation

Nakano-Kobayashi A, Tai Y, Nadif Kasri N, Van Aelst L

Bcl-2 binds to and inhibits ryanodine receptors

Vervliet T, Decrock E, Molgó J, Sorrentino V, Missiaen L, Leybaert L, De Smedt H, Nadif Kasri N, Parys JB, Bultynck G.

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function

Marjolein H. Willemsen, Wei Ba, Willemijn M. Wissink-Lindhout, Arjan P.M. de Brouwer, Stefan A. Haas, Melanie Bienek, Hao Hu, Lisenka E.L.M. Vissers, Hans van Bokhoven, Vera Kalscheuer, Nael Nadif Kasri and Tjitske Kleefstra

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice

Balemans MC, Ansar M, Oudakker AR, van Caam AP, Bakker B, Vitters EL, van der Kraan PM, de Bruijn DR, Janssen SM, Kuipers AJ, Huibers MM, Maliepaard EM, Walboomers XF, Benevento M, Nadif Kasri N, Kleefstra T, Zhou H, Van der Zee CE, van Bokhoven H.

Rho GTPase signaling at the synapse: implications for intellectual disability

Ba W, van der Raadt J, Nadif Kasri N.

Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome

M.C.M. Balemans, N. Nadif Kasri, M.V. Kopanitsa, N.O. Afinowi, G. Ramakers, T.A. Peters, A.J. Beynon, S.M. Janssen, R.C.J van Summeren, J.M. Eeftens, N. Eikelenboom, M. Benevento, M. Tachibana, Y. Shinkai, T. Kleefstra, H van Bokhoven, C.E.E.M. Van der Zee.

Publications

Nael Nadif Kasri

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