NOVA-dependent regulation of cryptic NMD exons controls synaptic protein levels after seizure

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

Huang, D. W., Sherman, B. T., & Lempicki, R. A. (2009) · Nature Protocols · doi:10.1038/nprot.2008.211 · Cited by 35,890 · see citing works

DAVID: Database for Annotation, Visualization, and Integrated Discovery

Dennis, G., Sherman, B. T., Hosack, D. A., Yang, J., Gao, W., Lane, H. C., & Lempicki, R. A. (2003) · Genome Biology · doi:10.1186/gb-2003-4-5-p3 · Cited by 9,327 · see citing works

The widespread regulation of microRNA biogenesis, function and decay

Krol, J., Loedige, I., & Filipowicz, W. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2843 · Cited by 4,672 · see citing works

Regulation of mRNA Translation and Stability by microRNAs

Fabian, M. R., Sonenberg, N., & Filipowicz, W. (2010) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060308-103103 · Cited by 3,214 · see citing works

The MicroRNA miR-124 Promotes Neuronal Differentiation by Triggering Brain-Specific Alternative Pre-mRNA Splicing

Makeyev, E. V., Zhang, J., Carrasco, M. A., & Maniatis, T. (2007) · Molecular Cell · doi:10.1016/j.molcel.2007.07.015 · Cited by 1,395 · see citing works

HITS-CLIP yields genome-wide insights into brain alternative RNA processing

Licatalosi, D. D., Mele, A., Fak, J. J., Ule, J., Kayikci, M., Chi, S. W., Clark, T. A., Schweitzer, A. C., Blume, J. E., Wang, X., et al. (2008) · Nature · doi:10.1038/nature07488 · Cited by 1,352 · cited 23× · see citing works

RNA and Disease

Cooper, T. A., Wan, L., & Dreyfuss, G. (2009) · Cell · doi:10.1016/j.cell.2009.02.011 · Cited by 1,152 · see citing works

An extensive network of coupling among gene expression machines

Maniatis, T., & Reed, R. (2002) · Nature · doi:10.1038/416499a · Cited by 1,148 · see citing works

CLIP Identifies Nova-Regulated RNA Networks in the Brain

Ule, J., Jensen, K. B., Ruggiu, M., Mele, A., Ule, A., & Darnell, R. B. (2003) · Science · doi:10.1126/science.1090095 · Cited by 1,120 · see citing works

HuR and mRNA stability

Brennan, C. M., & Steitz*, J. A. (2001) · Cellular and Molecular Life Sciences · doi:10.1007/pl00000854 · Cited by 1,095 · see citing works

Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans

Lewis, B. P., Green, R. E., & Brenner, S. E. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0136770100 · Cited by 1,049 · see citing works

mRNA localization: Gene expression in the spatial dimension

Martin, K. C., & Ephrussi, A. (2009) · Cell · doi:10.1016/j.cell.2009.01.044 · Cited by 1,048 · see citing works

GSK3 signalling in neural development

Hur, E., & Zhou, F. (2010) · Nature reviews. Neuroscience · doi:10.1038/nrn2870 · Cited by 828 · see citing works

RNA processing and its regulation: global insights into biological networks

Licatalosi, D. D., & Darnell, R. B. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2673 · Cited by 760 · see citing works

Postsynaptic BDNF‐TrkB signaling in synapse maturation, plasticity, and disease

Yoshii, A., & Constantine‐Paton, M. (2010) · Developmental Neurobiology · doi:10.1002/dneu.20765 · Cited by 744 · see citing works

RNA stabilization by the AU‐rich element binding protein, HuR, an ELAV protein

Peng, S., Chen, C. A., Xu, N., & Shyu, A. (1998) · The EMBO Journal · doi:10.1093/emboj/17.12.3461 · Cited by 739 · see citing works

Regulation of cytoplasmic mRNA decay

Schoenberg, D. R., & Maquat, L. E. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3160 · Cited by 656 · see citing works

Dectin-1 is an extracellular pathogen sensor for the induction and processing of IL-1β via a noncanonical caspase-8 inflammasome

Gringhuis, S. I., Kaptein, T. M., Wevers, B. A., Theelen, B., van der Vlist, M., Boekhout, T., & Geijtenbeek, T. B. H. (2012) · Nature Immunology · doi:10.1038/ni.2222 · Cited by 612 · see citing works

Decay Rates of Human mRNAs: Correlation With Functional Characteristics and Sequence AttributesPreprint

Yang, E., van Nimwegen, E., Zavolan, M., Rajewsky, N., Schroeder, M., Magnasco, M., & Darnell, J. E., Jr. (2003) · Genome Research · doi:10.1101/gr.1272403 · Cited by 598 · see citing works

CLIP: A method for identifying protein–RNA interaction sites in living cells

Ule, J., Jensen, K. B., Mele, A., & Darnell, R. B. (2005) · Methods · doi:10.1016/j.ymeth.2005.07.018 · Cited by 597 · see citing works

A post-transcriptional regulatory switch in polypyrimidine tract-binding proteins reprograms alternative splicing in developing neurons

Boutz, P. L., Stoilov, P., Li, Q., Lin, C.-H., Chawla, G., Ostrow, K., Shiue, L., Ares, M., & Black, D. L. (2007) · Genes & Development · doi:10.1101/gad.1558107 · Cited by 577 · see citing works

HuD, a paraneoplastic encephalomyelitis antigen, contains RNA-binding domains and is homologous to Elav and sex-lethal

Szabo, A., Dalmau, J., Manley, G., Rosenfeld, M., Wong, E., Henson, J., Posner, J. B., & Furneaux, H. M. (1991) · Cell · doi:10.1016/0092-8674(91)90184-z · Cited by 553 · see citing works

Ultraconserved elements are associated with homeostatic control of splicing regulators by alternative splicing and nonsense-mediated decayPreprint

Ni, J. Z., Grate, L. R., Donohue, J. P., Preston, C. G., Nobida, N., O’Brien, G. S., Shiue, L., Clark, T. A., Blume, J. E., & Ares, M. (2007) · Genes & Development · doi:10.1101/gad.1525507 · Cited by 551 · see citing works

An RNA map predicting Nova-dependent splicing regulation

Ule, J., Stefani, G., Mele, A., Ruggiu, M., Wang, X., Taneri, B., Gaasterland, T., Blencowe, B. J., & Darnell, R. B. (2006) · Nature · doi:10.1038/nature05304 · Cited by 528 · see citing works

Nova regulates brain-specific splicing to shape the synapse

Ule, J., Ule, A., Spencer, J., Williams, A., Hu, J.-S., Cline, M., Wang, H., Clark, T., Fraser, C., Ruggiu, M., et al. (2005) · Nature Genetics · doi:10.1038/ng1610 · Cited by 509 · see citing works

A base-excision DNA-repair protein finds intrahelical lesion bases by fast sliding in contact with DNA

Blainey, P. C., van Oijen, A. M., Banerjee, A., Verdine, G. L., & Xie, X. S. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0509723103 · Cited by 467 · see citing works

Nova-1 Regulates Neuron-Specific Alternative Splicing and Is Essential for Neuronal Viability

Jensen, K. B., Dredge, B. K., Stefani, G., Zhong, R., Buckanovich, R. J., Okano, H. J., Yang, Y. Y. L., & Darnell, R. B. (2000) · Neuron · doi:10.1016/s0896-6273(00)80900-9 · Cited by 426 · see citing works

A conserved RNA-binding protein controls germline stem cells in Caenorhabditis elegans

Crittenden, S. L., Bernstein, D. S., Bachorik, J. L., Thompson, B. E., Gallegos, M. E., Petcherski, A. G., Moulder, G. L., Barstead, R. J., Wickens, M., & Kimble, J. E. (2002) · Nature · doi:10.1038/nature754 · Cited by 421 · see citing works

Autoregulation of Polypyrimidine Tract Binding Protein by Alternative Splicing Leading to Nonsense-Mediated Decay

Wollerton, M., Gooding, C., Wagner, E. J., García-Blanco, M. A., & Smith, C. W. J. (2004) · Molecular Cell · doi:10.1016/s1097-2765(03)00502-1 · Cited by 409 · see citing works

Identification of Neuronal Nuclei (NeuN) as Fox-3, a New Member of the Fox-1 Gene Family of Splicing Factors

Kim, K. K., Adelstein, R. S., & Kawamoto, S. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.052969 · Cited by 398 · see citing works

HITS-CLIP: panoramic views of protein-RNA regulation in living cells

Darnell, R. B. (2010) · WIREs RNA · doi:10.1002/wrna.31 · Cited by 382 · see citing works

A Hierarchy of Hu RNA Binding Proteins in Developing and Adult Neurons

Okano, H. J., & Darnell, R. B. (1997) · The Journal of Neuroscience · doi:10.1523/jneurosci.17-09-03024.1997 · Cited by 379 · see citing works

Hel-N1: an Autoimmune RNA-Binding Protein with Specificity for 3' Uridylate-Rich Untranslated Regions of Growth Factor mRNAs

Levine, T., Gao, F., King, P. H., Andrews, L. G., & Keene, J. D. (1993) · Molecular and Cellular Biology · doi:10.1128/mcb.13.6.3494 · Cited by 356 · see citing works

Making synaptic plasticity and memory last: mechanisms of translational regulationPreprint

Richter, J. D., & Klann, E. (2009) · Genes & Development · doi:10.1101/gad.1735809 · Cited by 345 · see citing works

Splicing of oskar RNA in the nucleus is coupled to its cytoplasmic localization

Hachet, O., & Ephrussi, A. (2004) · Nature · doi:10.1038/nature02521 · Cited by 336 · see citing works

The EJC Factor eIF4AIII Modulates Synaptic Strength and Neuronal Protein Expression

Giorgi, C., Yeo, G. W.-M., Stone, M. E., Katz, D. B., Burge, C. B., Turrigiano, G. G., & Moore, M. J. (2007) · Cell · doi:10.1016/j.cell.2007.05.028 · Cited by 332 · see citing works

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

Gehman, L. T., Stoilov, P., Maguire, J., Damianov, A., Lin, C.-H., Shiue, L., Ares, M., Mody, I., & Black, D. L. (2011) · Nature Genetics · doi:10.1038/ng.841 · Cited by 331 · see citing works

Sequence-Specific RNA Binding by a Nova KH Domain

Lewis, H. A., Musunuru, K., Jensen, K. B., Edo, C., Chen, H., Darnell, R. B., & Burley, S. K. (2000) · Cell · doi:10.1016/s0092-8674(00)80668-6 · Cited by 319 · see citing works

Nova, the paraneoplastic Ri antigen, is homologous to an RNA-binding protein and is specifically expressed in the developing motor system

Buckanovich, R. J., Posner, J. B., & Darnell, R. B. (1993) · Neuron · doi:10.1016/0896-6273(93)90077-5 · Cited by 318 · see citing works

Cooperative Assembly of an hnRNP Complex Induced by a Tissue-Specific Homolog of Polypyrimidine Tract Binding Protein

Markovtsov, V. V., Nikolic, J. M., Goldman, J. A., Turck, C. W., Chou, M., & Black, D. L. (2000) · Molecular and Cellular Biology · doi:10.1128/mcb.20.20.7463-7479.2000 · Cited by 311 · see citing works

Identification of HuR as a protein implicated in AUUUA‐mediated mRNA decay

Myer, V. E., Fan, X. C., & Steitz, J. A. (1997) · The EMBO Journal · doi:10.1093/emboj/16.8.2130 · Cited by 302 · see citing works

Integrative Modeling Defines the Nova Splicing-Regulatory Network and Its Combinatorial Controls

Zhang, C., Frias, M. A., Mele, A., Ruggiu, M., Eom, T., Marney, C. B., Wang, H., Licatalosi, D. D., Fak, J. J., & Darnell, R. B. (2010) · Science · doi:10.1126/science.1191150 · Cited by 294 · see citing works

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Tarpey, P. S., Raymond, F. L., Nguyen, L. S., Rodriguez, J. D., Hackett, A., Vandeleur, L., Smith, R., Shoubridge, C., Edkins, S., Stevens, C., et al. (2007) · Nature Genetics · doi:10.1038/ng2100 · Cited by 293 · see citing works

Coordinated regulation of neuronal mRNA steady-state levels through developmentally controlled intron retention

Yap, K., Lim, Z. Q., Khandelia, P., Friedman, B., & Makeyev, E. V. (2012) · Genes & Development · doi:10.1101/gad.188037.112 · Cited by 286 · see citing works

SRprises along a Messenger’s Journey

Huang, Y., & STEITZ, J. A. (2005) · Molecular Cell · doi:10.1016/j.molcel.2005.02.020 · Cited by 280 · see citing works

Onconeural antigens and the paraneoplastic neurologic disorders: at the intersection of cancer, immunity, and the brain.

Darnell, R. B. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.10.4529 · Cited by 276 · see citing works

PUF proteins: repression, activation and mRNA localization

Quenault, T., Lithgow, T. J., & Traven, A. (2010) · Trends in Cell Biology · doi:10.1016/j.tcb.2010.09.013 · Cited by 275 · see citing works

A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

Singh, N. A., Pappas, C. M., Dahle, E. J., Claes, L. R. F., Pruess, T. H., Jonghe, P. D., Thompson, J., Dixon, M., Gurnett, C. A., Peiffer, A. P., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000649 · Cited by 264 · see citing works

The Neuronal RNA Binding Protein Nova-1 Recognizes Specific RNA Targets In Vitro and In Vivo

Buckanovich, R. J., & Darnell, R. B. (1997) · Molecular and Cellular Biology · doi:10.1128/mcb.17.6.3194 · Cited by 259 · see citing works

Separable Roles for rent1/hUpf1 in Altered Splicing and Decay of Nonsense Transcripts

Mendell, J. T., Rhys, C. M. J. A., & Dietz, H. C. (2002) · Science · doi:10.1126/science.1074428 · Cited by 258 · see citing works

PSD-95 is post-transcriptionally repressed during early neural development by PTBP1 and PTBP2

Zheng, S., Gray, E. E., Chawla, G., Porse, B. T., O'Dell, T. J., & Black, D. L. (2012) · Nature Neuroscience · doi:10.1038/nn.3026 · Cited by 254 · see citing works

Splicing Regulation in Neurologic Disease

Licatalosi, D. D., & Darnell, R. B. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.017 · Cited by 250 · see citing works

A brain-enriched polypyrimidine tract-binding protein antagonizes the ability of Nova to regulate neuron-specific alternative splicing

Polydorides, A. D., Okano, H. J., Yang, Y. Y. L., Stefani, G., & Darnell, R. B. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.110128397 · Cited by 230 · see citing works

The neuronal RNA-binding protein Nova-2 is implicated as the autoantigen targeted in POMA patients with dementia

Yang, Y. Y. L., Yin, G. L., & Darnell, R. B. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.22.13254 · Cited by 219 · see citing works

Paraneoplastic Syndromes Affecting the Nervous System

Darnell, R. B., & Posner, J. B. (2006) · Seminars in Oncology · doi:10.1053/j.seminoncol.2006.03.008 · Cited by 216 · see citing works

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

Meisler, M. H., O’Brien, J. E., & Sharkey, L. M. (2010) · The Journal of Physiology · doi:10.1113/jphysiol.2010.188482 · Cited by 215 · see citing works

Neuronal Elav-like (Hu) proteins regulate RNA splicing and abundance to control glutamate levels and neuronal excitability

Ince-Dunn, G., Okano, H. J., Jensen, K. B., Park, W.-Y., Zhong, R., Ule, J., Mele, A., Fak, J. J., Yang, C., Zhang, C., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.07.009 · Cited by 212 · see citing works

Localization of a β-Actin Messenger Ribonucleoprotein Complex with Zipcode-Binding Protein Modulates the Density of Dendritic Filopodia and Filopodial Synapses

Eom, T., Antar, L. N., Singer, R. H., & Bassell, G. J. (2003) · Journal of Neuroscience · doi:10.1523/jneurosci.23-32-10433.2003 · Cited by 210 · see citing works

ZBP1 recognition of β-actin zipcode induces RNA loopingPreprint

Chao, J. A., Patskovsky, Y., Patel, V., Levy, M., Almo, S. C., & Singer, R. H. (2010) · Genes & Development · doi:10.1101/gad.1862910 · Cited by 205 · see citing works

Regulation of Multiple Core Spliceosomal Proteins by Alternative Splicing-Coupled Nonsense-Mediated mRNA Decay

Saltzman, A. L., Kim, Y. K., Pan, Q., Fagnani, M. M., Maquat, L. E., & Blencowe, B. J. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.00361-08 · Cited by 204 · see citing works

Paraneoplastic Syndromes Affecting the Nervous System

Khasraw, M., & Khakoo, Y. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-0435-8.00101-3 · Cited by 203 · see citing works

Ptbp2 represses adult-specific splicing to regulate the generation of neuronal precursors in the embryonic brain

Licatalosi, D. D., Yano, M., Fak, J. J., Mele, A., Grabinski, S. E., Zhang, C., & Darnell, R. B. (2012) · Genes & Development · doi:10.1101/gad.191338.112 · Cited by 193 · see citing works

Deciphering the role of RNA-binding proteins in the post-transcriptional control of gene expression

Kishore, S., Luber, S., & Zavolan, M. (2010) · Briefings in Functional Genomics · doi:10.1093/bfgp/elq028 · Cited by 178 · see citing works

RNA binding proteins and the regulation of neuronal synaptic plasticity

Ule, J., & Darnell, R. B. (2006) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2006.01.003 · Cited by 177 · see citing works

Nova2 Regulates Neuronal Migration through an RNA Switch in Disabled-1 Signaling

Yano, M., Hayakawa-Yano, Y., Mele, A., & Darnell, R. B. (2010) · Neuron · doi:10.1016/j.neuron.2010.05.007 · Cited by 176 · see citing works

A predominantly nuclear protein affecting cytoplasmic localization of β-actin mRNA in fibroblasts and neurons

Gu, W., Pan, F., Zhang, H., Bassell, G. J., & Singer, R. H. (2002) · The Journal of Cell Biology · doi:10.1083/jcb.200105133 · Cited by 163 · see citing works

Post-transcriptional control during chronic inflammation and cancer: a focus on AU-rich elements

Khabar, K. S. A. (2010) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-010-0383-x · Cited by 157 · see citing works

The tetranucleotide UCAY directs the specific recognition of RNA by the Nova K-homology 3 domain

Jensen, K. B., Musunuru, K., Lewis, H. A., Burley, S. K., & Darnell, R. B. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.090553997 · Cited by 144 · see citing works

CLIP: Crosslinking and ImmunoPrecipitation of In Vivo RNA Targets of RNA-Binding Proteins

Jensen, K. B., & Darnell, R. B. (2008) · Methods in molecular biology · doi:10.1007/978-1-60327-475-3_6 · Cited by 143 · see citing works

Impact of Nonsense-Mediated mRNA Decay on the Global Expression Profile of Budding Yeast

Guan, Q., Zheng, W., Tang, S., Liu, X., Zinkel, R. A., Tsui, K., Yandell, B. S., & Culbertson, M. R. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020203 · Cited by 138 · see citing works

Mechanisms and Function of Dendritic Exocytosis

Kennedy, M. J., & Ehlers, M. D. (2011) · Neuron · doi:10.1016/j.neuron.2011.02.032 · Cited by 132 · see citing works

Nova autoregulation reveals dual functions in neuronal splicing

Dredge, B. K., Stefani, G., Engelhard, C. C., & Darnell, R. B. (2005) · The EMBO Journal · doi:10.1038/sj.emboj.7600630 · Cited by 125 · see citing works

Hrb27C, Sqd and Otu cooperatively regulategurkenRNA localization and mediate nurse cell chromosome dispersion inDrosophilaoogenesis

Goodrich, J. S., Clouse, K. N., & Schüpbach, T. (2004) · Development · doi:10.1242/dev.01078 · Cited by 124 · see citing works

Nova Regulates GABA A Receptor γ2 Alternative Splicing via a Distal Downstream UCAU-Rich Intronic Splicing Enhancer

Dredge, B. K., & Darnell, R. B. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.13.4687-4700.2003 · Cited by 120 · see citing works

Regulation of nonsense‐mediated mRNA decay

Huang, L., & Wilkinson, M. (2012) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1137 · Cited by 119 · see citing works

Rescuing Z ⁺ agrin splicing in <i>Nova</i> null mice restores synapse formation and unmasks a physiologic defect in motor neuron firing

Ruggiu, M., Herbst, R., Kim, N., Jevsek, M., Fak, J. J., Mann, M. A., Fischbach, G., Burden, S. J., & Darnell, R. B. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0813112106 · Cited by 113 · see citing works

Hel-N1: an Autoimmune RNA-Binding Protein with Specificity for 3' Uridylate-Rich Untranslated Regions of Growth Factor mRNAs

Levine, T., Gao, F., King, P. H., et al. (1993) · Molecular and Cellular Biology · doi:10.1128/mcb.13.6.3494-3504.1993 · Cited by 109 · see citing works

Properties of the Regulatory RNA-Binding Protein HuR and its Role in Controlling miRNA Repression

Meisner-Kober, N. C., & Filipowicz, W. (2010) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-7823-3_10 · Cited by 102 · see citing works

Seizures produced by pilocarpine: Neuropathological sequelae and activity of glutamate decarboxylase in the rat forebrain

Turski, L., Cavalheiro, É. A., Sieklucka-Dziuba, M., Ikonomidou, C., Czuczwar, S. J., & Turski, W. A. (1986) · Brain Research · doi:10.1016/0006-8993(86)91247-3 · Cited by 101 · see citing works

NeuN/Rbfox3 Nuclear and Cytoplasmic Isoforms Differentially Regulate Alternative Splicing and Nonsense-Mediated Decay of Rbfox2

Dredge, B. K., & Jensen, K. B. (2011) · PLoS ONE · doi:10.1371/journal.pone.0021585 · Cited by 99 · see citing works

ZBP2 Facilitates Binding of ZBP1 to β-Actin mRNA during Transcription

Pan, F., Hüttelmaier, S., Singer, R. H., & Gu, W. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.00972-07 · Cited by 99 · see citing works

Developments in RNA Splicing and Disease

Poulos, M. G., Batra, R., Charizanis, K., & Swanson, M. S. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a000778 · Cited by 98 · see citing works

Binding of DAZAP1 and hnRNPA1/A2 to an Exonic Splicing Silencer in a Natural BRCA1 Exon 18 Mutant

Goina, E., Skoko, N., & Pagani, F. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.02253-07 · Cited by 85 · see citing works

Disruption of Sodium Bicarbonate Transporter SLC4A10 in a Patient With Complex Partial Epilepsy and Mental Retardation

Gurnett, C. A., Veile, R. A., Zempel, J. A., Blackburn, L., Lovett, M., & Bowcock, A. M. (2008) · Archives of Neurology · doi:10.1001/archneur.65.4.550 · Cited by 75 · see citing works

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy

Sander, T., Toliat, M. R., Heils, A., Leschik, G., Becker, C., Rüschendorf, F., Rohde, K., Mundlos, S., & Nürnberg, P. (2002) · Epilepsy Research · doi:10.1016/s0920-1211(02)00152-3 · Cited by 70 · see citing works

Increased Numbers of Coassembled PSD‐95 to NMDA‐receptor Subunits NR2B and NR1 in Human Epileptic Cortical Dysplasia

Ying, Z., Bingaman, W. E., & Najm, I. (2004) · Epilepsia · doi:10.1111/j.0013-9580.2004.37703.x · Cited by 70 · see citing works

The neuronal splicing factor Nova co-localizes with target RNAs in the dendrite

Racca, C. (2010) · Frontiers in Neural Circuits · doi:10.3389/neuro.04.005.2010 · Cited by 69 · see citing works

Polyamine-regulated unproductive splicing and translation of spermidine/spermine N1-acetyltransferase

Hyvönen, M. T., Uimari, A., Keinänen, T. A., Heikkinen, S., Pellinen, R., Wahlfors, T., Korhonen, A., Närvänen, A. T. O., Wahlfors, J., Alhonen, L. I., et al. (2006) · RNA · doi:10.1261/rna.39806 · Cited by 68 · see citing works

Paraneoplastic Neurologic Disorders

Darnell, R. B. (2004) · Archives of Neurology · doi:10.1001/archneur.61.1.30 · Cited by 59 · see citing works

Developing Global Insight into RNA RegulationPreprint

Darnell, R. B. (2006) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2006.71.002 · Cited by 36 · see citing works

Single-Molecule Studies of Transcription: From One RNA Polymerase at a Time to the Gene Expression Profile of a Cell

Wang, F., & Greene, E. C. (2011) · Journal of Molecular Biology · doi:10.1016/j.jmb.2011.01.024 · Cited by 26 · see citing works

DLG3/SAP102 protein expression in malformations of cortical development: A study of human epileptic cortex by tissue microarray

Qu, M., Aronica, E., Boer, K., Fällmar, D., Kumlien, E., Nistér, M., Wester, K., Pontén, F., & Smits, A. (2009) · Epilepsy Research · doi:10.1016/j.eplepsyres.2008.12.004 · Cited by 18 · see citing works

Studying Nonsense-Mediated mRNA Decay in Mammalian Cells

Matsuda, D., Sato, H., & Maquat, L. E. (2008) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(08)02409-9 · Cited by 17 · see citing works

Paraneoplastic Syndromes (Contemporary Neurology Series)

Moss, H. E. (2012) · Neuro-Ophthalmology · doi:10.3109/01658107.2012.722162 · Cited by 7 · see citing works

Paraneoplastic Syndromes (Contemporary Neurology Series)

Posner, J. B. (2011) · Cited by 7 · see citing works

Sequencing depth and coverage: key considerations in genomic analyses

Sims, D., Sudbery, I. M., Ilott, N. E., Heger, A., & Ponting, C. P. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3642 · Cited by 1,403 · see citing works

Alternative Splicing Regulatory Networks: Functions, Mechanisms, and Evolution

Ule, J., & Blencowe, B. J. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.09.017 · Cited by 780 · see citing works

A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains

Irimia, M., Weatheritt, R. J., Ellis, J. D., Parikshak, N. N., Gonatopoulos-Pournatzis, T., Babor, M., Quesnel-Vallières, M., Tapial, J., Raj, B., O’Hanlon, D., et al. (2014) · Cell · doi:10.1016/j.cell.2014.11.035 · Cited by 693 · see citing works

Alternative Splicing in the Mammalian Nervous System: Recent Insights into Mechanisms and Functional Roles

Raj, B., & Blencowe, B. J. (2015) · Neuron · doi:10.1016/j.neuron.2015.05.004 · Cited by 475 · see citing works

Lessons from non-canonical splicing

Sibley, C. R., Blázquez, L., & Ule, J. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.46 · Cited by 312 · see citing works

Control of gene expression through the nonsense-mediated RNA decay pathway

Nickless, A., Bailis, J. M., & You, Z. (2017) · Cell & Bioscience · doi:10.1186/s13578-017-0153-7 · Cited by 189 · see citing works

Alternative Splicing in Neurogenesis and Brain Development

Su, C.-H., Dhananjaya, D., & Tarn, W. (2018) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2018.00012 · Cited by 192 · see citing works

Pathway-driven discovery of epilepsy genes

Noebels, J. L. (2015) · Nature Neuroscience · doi:10.1038/nn.3933 · Cited by 187 · see citing works

A dynamic intron retention program enriched in RNA processing genes regulates gene expression during terminal erythropoiesis

Pimentel, H., Parra, M., Gee, S. L., Mohandas, N., Pachter, L. S., & Conboy, J. G. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv1168 · Cited by 187 · see citing works

The changing paradigm of intron retention: regulation, ramifications and recipes

Monteuuis, G., Wong, J. J. L., Bailey, C. G., Schmitz, U., & Rasko, J. E. J. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz1068 · Cited by 183 · see citing works

RNA Protein Interaction in Neurons

Darnell, R. B. (2013) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-062912-114322 · Cited by 181 · see citing works

Misregulation of an Activity-Dependent Splicing Network as a Common Mechanism Underlying Autism Spectrum Disorders

Quesnel-Vallières, M., Dargaei, Z., Irimia, M., Gonatopoulos-Pournatzis, T., Ip, J. Y., Wu, M., Sterne-Weiler, T., Nakagawa, S., Woodin, M. A., Blencowe, B. J., et al. (2016) · Molecular Cell · doi:10.1016/j.molcel.2016.11.033 · Cited by 178 · see citing works

Regulation of Neuronal Differentiation, Function, and Plasticity by Alternative Splicing

Furlanis, E., & Scheiffele, P. (2018) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-100617-062826 · Cited by 171 · see citing works

Heteromeric RNP Assembly at LINEs Controls Lineage-Specific RNA Processing

Attig, J., Agostini, F., Gooding, C., Chakrabarti, A. M., Singh, A., Haberman, N., Zagalak, J. A., Emmett, W., Smith, C. W. J., Luscombe, N. M., et al. (2018) · Cell · doi:10.1016/j.cell.2018.07.001 · Cited by 166 · see citing works

Autism spectrum disorder: insights into convergent mechanisms from transcriptomics

Quesnel-Vallières, M., Weatheritt, R. J., Cordes, S. P., & Blencowe, B. J. (2018) · Nature Reviews Genetics · doi:10.1038/s41576-018-0066-2 · Cited by 160 · see citing works

RNA Sequencing Data: Hitchhiker's Guide to Expression Analysis

den Berge, K. V., Hembach, K., Soneson, C., Tiberi, S., Clement, L., Love, M. I., Patro, R., & Robinson, M. D. (2019) · Annual Review of Biomedical Data Science · doi:10.1146/annurev-biodatasci-072018-021255 · Cited by 144 · see citing works

RNA Editing: A Contributor to Neuronal Dynamics in the Mammalian Brain

Behm, M., & Öhman, M. (2016) · Trends in Genetics · doi:10.1016/j.tig.2015.12.005 · Cited by 141 · see citing works

Shortened TDP43 isoforms upregulated by neuronal hyperactivity drive TDP43 pathology in ALS

Weskamp, K., Tank, E. M. H., Miguez, R., McBride, J. P., Gómez, N., White, M. A., Lin, Z., Moreno-Gonzalez, C., Serio, A., Sreedharan, J., et al. (2019) · Journal of Clinical Investigation · doi:10.1172/jci130988 · Cited by 127 · see citing works

NOVA2-mediated RNA regulation is required for axonal pathfinding during development

Saito, Y., Miranda‐Rottmann, S., Ruggiu, M., Park, C. Y., Fak, J. J., Ru, Z., Duncan, J. S., Fabella, B. A., Junge, H. J., Chen, Z., et al. (2016) · eLife · doi:10.7554/elife.14371 · Cited by 118 · see citing works

Alternative pre-mRNA splicing in neurons: growing up and extending its reach

Zheng, S., & Black, D. L. (2013) · Trends in Genetics · doi:10.1016/j.tig.2013.04.003 · Cited by 115 · see citing works

Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models

Tan, Q., Yalamanchili, H. K., Park, J., Maio, A. D., Lu, H., Wan, Y., White, J. J., Bondar, V. V., Sayegh, L. S., Liu, X., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw337 · Cited by 96 · see citing works

The Transcription Repressor REST in Adult Neurons: Physiology, Pathology, and Diseases

Baldelli, P., & Meldolesi, J. (2015) · eNeuro · doi:10.1523/eneuro.0010-15.2015 · Cited by 82 · see citing works

Differential NOVA2-Mediated Splicing in Excitatory and Inhibitory Neurons Regulates Cortical Development and Cerebellar Function

Saito, Y., Yuan, Y., Zucker-Scharff, I., Fak, J. J., Jereb, S., Tajima, Y., Licatalosi, D. D., & Darnell, R. B. (2019) · Neuron · doi:10.1016/j.neuron.2018.12.019 · Cited by 77 · see citing works

Intracellular calcium regulates nonsense-mediated mRNA decay

Nickless, A., Jackson, E., Marasa, J. C., Nugent, P., Mercer, R. W., Piwnica-Worms, D. R., & You, Z. (2014) · Nature Medicine · doi:10.1038/nm.3620 · Cited by 72 · see citing works

PTBP1 and PTBP2 Repress Nonconserved Cryptic Exons

Ling, J. P., Chhabra, R., Merran, J., Schaughency, P., Wheelan, S. J., Corden, J. L., & Wong, P. C. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.08.071 · Cited by 71 · see citing works

The regulation and function of post-transcriptional RNA splicing

Choquet, K., Patop, I. L., & Churchman, L. S. (2025) · Nature Reviews Genetics · doi:10.1038/s41576-025-00836-z · Cited by 71 · see citing works

LSD1 Neurospecific Alternative Splicing Controls Neuronal Excitability in Mouse Models of Epilepsy

Rusconi, F., Paganini, L., Braida, D., Ponzoni, L., Toffolo, E., Maroli, A., Landsberger, N., Bedogni, F., Turco, E., Pattini, L., et al. (2014) · Cerebral Cortex · doi:10.1093/cercor/bhu070 · Cited by 66 · see citing works

Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity

Pohodich, A. E., Yalamanchili, H. K., Raman, A. T., Wan, Y., Gundry, M. C., Hao, S., Jin, H., Tang, J., Liu, Z., & Zoghbi, H. Y. (2018) · eLife · doi:10.7554/elife.34031 · Cited by 65 · see citing works

Unraveling the Pathways to Neuronal Homeostasis and Disease: Mechanistic Insights into the Role of RNA-Binding Proteins and Associated Factors

Ravanidis, S., Kattan, F.-G., & Doxakis, E. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19082280 · Cited by 65 · see citing works

Neuronal Inactivity Co-opts LTP Machinery to Drive Potassium Channel Splicing and Homeostatic Spike Widening

Li, B., Suutari, B. S., Sun, S. D., Luo, Z.-Y., Wei, C., Chenouard, N., Mandelberg, N. J., Zhang, G., Wamsley, B., Tian, G., et al. (2020) · Cell · doi:10.1016/j.cell.2020.05.013 · Cited by 62 · see citing works

Emerging functions of alternative splicing coupled with nonsense-mediated decay

Hamid, F., & Makeyev, E. V. (2014) · Biochemical Society Transactions · doi:10.1042/bst20140066 · Cited by 60 · see citing works

S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing

Jagadeesh, K. A., Paggi, J. M., Ye, J. S., Stenson, P. D., Cooper, D. N., Bernstein, J. A., & Bejerano, G. (2019) · Nature Genetics · doi:10.1038/s41588-019-0348-4 · Cited by 61 · see citing works

The Future of Cross-Linking and Immunoprecipitation (CLIP)Preprint

Ule, J., Hwang, H., & Darnell, R. B. (2018) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a032243 · Cited by 63 · see citing works

Poison exons in neurodevelopment and disease

Carvill, G. L., & Mefford, H. C. (2020) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2020.05.030 · Cited by 60 · see citing works

Non-coding functions of alternative pre-mRNA splicing in development

Mockenhaupt, S., & Makeyev, E. V. (2015) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2015.10.018 · Cited by 57 · see citing works

Cryptic exon detection and transcriptomic changes revealed in single-nuclei RNA sequencing of C9ORF72 patients spanning the ALS-FTD spectrum

Gittings, L. M., Alsop, E. B., Antone, J., Singer, M., Whitsett, T. G., Sattler, R., & Keuren‐Jensen, K. R. V. (2023) · Acta Neuropathologica · doi:10.1007/s00401-023-02599-5 · Cited by 56 · see citing works

FMRP regulates mRNAs encoding distinct functions in the cell body and dendrites of CA1 pyramidal neurons

Hale, C. R., Sawicka, K., Mora, K., Fak, J. J., Kang, J. J., Cutrim, P., Cialowicz, K. I., Carroll, T. S., & Darnell, R. B. (2021) · eLife · doi:10.7554/elife.71892 · Cited by 51 · see citing works

NeuroLSD1: Splicing-Generated Epigenetic Enhancer of Neuroplasticity

Rusconi, F., Grillo, B., Toffolo, E., Mattevi, A., & Battaglioli, E. (2016) · Trends in Neurosciences · doi:10.1016/j.tins.2016.11.002 · Cited by 49 · see citing works

Regional Variation of Splicing QTLs in Human Brain

Zhang, Y., Yang, H. T., Kadash-Edmondson, K. E., Pan, Y., Pan, Z., Davidson, B. L., & Xing, Y. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.06.002 · Cited by 46 · see citing works

Calcium Channel CaVα1 Splice Isoforms - Tissue Specificity and Drug Action

Lipscombe, D., & Andrade, A. (2015) · Current Molecular Pharmacology · doi:10.2174/1874467208666150507103215 · Cited by 45 · see citing works

Beyond proteome diversity: alternative splicing as a regulator of neuronal transcript dynamics

Mauger, O., & Scheiffele, P. (2017) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2017.05.012 · Cited by 45 · see citing works

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

Mattioli, F., Hayot, G., Drouot, N., Isidor, B., Courraud, J., Hinckelmann, M.-V., Mau‐Them, F. T., Sellier, C., Goldman, A. M., Telegrafi, A. B., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.02.013 · Cited by 41 · see citing works

Regulation of membrane excitability: a convergence on voltage-gated sodium conductance

Lin, W.-H., & Baines, R. (2014) · Molecular Neurobiology · doi:10.1007/s12035-014-8674-0 · Cited by 41 · see citing works

RNA Degradation in Neurodegenerative Disease

Weskamp, K., & Barmada, S. J. (2018) · Advances in neurobiology · doi:10.1007/978-3-319-89689-2_5 · Cited by 40 · see citing works

Splicing factor TRA2B is required for neural progenitor survival

Roberts, J. M., Ennajdaoui, H., Edmondson, C., Wirth, B., Sanford, J. R., & Chen, B. (2013) · The Journal of Comparative Neurology · doi:10.1002/cne.23405 · Cited by 41 · see citing works

RNA binding proteins: a common denominator of neuronal function and dysfunction

Doxakis, E. (2014) · Neuroscience Bulletin · doi:10.1007/s12264-014-1443-7 · Cited by 38 · see citing works

A post-transcriptional mechanism pacing expression of neural genes with precursor cell differentiation status

Dai, W., Li, W., Hoque, M., Li, Z., Tian, B., & Makeyev, E. V. (2015) · Nature Communications · doi:10.1038/ncomms8576 · Cited by 36 · see citing works

Synaptic control of local translation: the plot thickens with new characters

Thomas, M. G., Pascual, M. L., Maschi, D., Luchelli, L., & Boccaccio, G. L. (2013) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-013-1506-y · Cited by 34 · see citing works

Regulation of mRNA Abundance by Polypyrimidine Tract-Binding Protein-Controlled Alternate 5′ Splice Site Choice

Hamid, F., & Makeyev, E. V. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004771 · Cited by 33 · see citing works

RNA-binding protein signaling in adult neurogenesis

Chan, J. N.-M., Sánchez-Vidaña, D. I., Anoopkumar‐Dukie, S., Li, Y., & Wui-Man, L. B. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.982549 · Cited by 31 · see citing works

Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains

Chung, M., Carter, E. K., Veire, A. M., Dammer, E. B., Chang, J., Duong, D. M., Raj, N., Bassell, G. J., Glass, J. D., Gendron, T. F., et al. (2024) · Acta Neuropathologica · doi:10.1007/s00401-023-02671-0 · Cited by 31 · see citing works

Dynamin 1 isoform roles in a mouse model of severe childhood epileptic encephalopathy

Asinof, S. K., Mahaffey, C. L., Beyer, B. J., Frankel, W. N., & Boumil, R. M. (2016) · Neurobiology of Disease · doi:10.1016/j.nbd.2016.06.014 · Cited by 29 · see citing works

The Physiological Roles of the Exon Junction Complex in Development and Diseases

Asthana, S., Martin, H., Rupkey, J., Patel, S. A., Yoon, J., Keegan, A. R., & Mao, Y. (2022) · Cells · doi:10.3390/cells11071192 · Cited by 27 · see citing works

RNA sequencing of synaptic and cytoplasmic Upf1-bound transcripts supports contribution of nonsense-mediated decay to epileptogenesis

Mooney, C. M., Jimenez-Mateos, E. M., Engel, T., Mooney, C., Diviney, M., Venø, M. T., Kjems, J., Farrell, M. A., O’Brien, D. F., Delanty, N., et al. (2017) · Scientific Reports · doi:10.1038/srep41517 · Cited by 25 · see citing works

Regulation of gene expression through production of unstable mRNA isoforms

Sibley, C. R. (2014) · Biochemical Society Transactions · doi:10.1042/bst20140102 · Cited by 24 · see citing works

Dynamic Control of Dendritic mRNA Expression by CNOT7 Regulates Synaptic Efficacy and Higher Cognitive Function

McFleder, R. L., Mansur, F., & Richter, J. D. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.06.078 · Cited by 23 · see citing works

A spatial long-read approach at near-single-cell resolution reveals developmental regulation of splicing and polyadenylation sites in distinct cortical layers and cell types

Foord, C., Prjibelski, A. D., Hu, W., Michielsen, L., Vandelli, A., Narykov, O., Evans, B., Hsu, J., Belchikov, N., Jarroux, J., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-63301-9 · Cited by 22 · see citing works

Age-Related Alternative Splicing: Driver or Passenger in the Aging Process?

Baralle, M., & Romano, M. (2023) · Cells · doi:10.3390/cells12242819 · Cited by 23 · see citing works

Seizure suppression through manipulating splicing of a voltage-gated sodium channel

Lin, W., He, M., & Baines, R. (2015) · Brain · doi:10.1093/brain/awv012 · Cited by 20 · see citing works

Alternative splicing coupled to nonsense-mediated decay coordinates downregulation of non-neuronal genes in developing mouse neurons

Zhuravskaya, A., Yap, K., Hamid, F., & Makeyev, E. V. (2024) · Genome biology · doi:10.1186/s13059-024-03305-8 · Cited by 21 · see citing works

Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity

Reis, R. D., Kornobis, É., Pereira, A., Torès, F., Carrasco, J., Gautier, C., Jahannault-Talignani, C., Nitschké, P., Muchardt, C., Schlösser, A., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-31264-w · Cited by 21 · see citing works

The 3D-Evo Space: Evolution of Gene Expression and Alternative Splicing Regulation

Mantica, F., & Irimia, M. (2022) · Annual Review of Genetics · doi:10.1146/annurev-genet-071719-020653 · Cited by 19 · see citing works

Splicing in the Human Brain

Zaghlool, A., Ameur, A., Cavelier, L. B., & Feuk, L. (2014) · International review of neurobiology · doi:10.1016/b978-0-12-801105-8.00005-9 · Cited by 20 · see citing works

NOVA1 acts on Impact to regulate hypothalamic function and translation in inhibitory neurons

Tajima, Y., Ito, K., Yuan, Y., Frank, M. O., Saito, Y., & Darnell, R. B. (2023) · Cell Reports · doi:10.1016/j.celrep.2023.112050 · Cited by 18 · see citing works

The impact of the RBM4-initiated splicing cascade on modulating the carcinogenic signature of colorectal cancer cells

Lin, J.-C., Lee, Y.-C., Liang, Y., Fann, Y. C., Johnson, K. R., & Lin, Y. (2017) · Scientific Reports · doi:10.1038/srep44204 · Cited by 19 · see citing works

Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease

Titus, M. B., Chang, A. W., & Olesnicky, E. C. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.775395 · Cited by 18 · see citing works

p38 MAPK inhibits nonsense-mediated RNA decay in response to persistent DNA damage in noncycling cells

Nickless, A., Cheruiyot, A., Flanagan, K. C., Piwnica-Worms, D. R., Stewart, S. A., & You, Z. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.787846 · Cited by 16 · see citing works

A Sam68‐dependent alternative splicing program shapes postsynaptic protein complexes

Witte, H., Schreiner, D., & Scheiffele, P. (2018) · European Journal of Neuroscience · doi:10.1111/ejn.14332 · Cited by 18 · see citing works

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

Scala, M., Drouot, N., MacLennan, S. C., Wessels, M. W., Krygier, M., Pavinato, L., Telegrafi, A. B., de Man, R. A., van Slegtenhorst, M., Iacomino, M., et al. (2022) · Human Mutation · doi:10.1002/humu.24414 · Cited by 15 · see citing works

Nova proteins direct synaptic integration of somatostatin interneurons through activity-dependent alternative splicing

Ibrahim, L. A., Wamsley, B., Alghamdi, N., Yusuf, N., Sevier, E., Hairston, A., Sherer, M., Jaglin, X. H., Xu, Q., Guo, L., et al. (2023) · eLife · doi:10.7554/elife.86842 · Cited by 14 · see citing works

MATR3 pathogenic variants differentially impair its cryptic splicing repression function

Khan, M., Chen, X. X., Dias, M., Santos, J. R., Kour, S., You, J., van Bruggen, R., Youssef, M., Wan, Y., Liu, Z., et al. (2024) · FEBS Letters · doi:10.1002/1873-3468.14806 · Cited by 15 · see citing works

Gene Expression Profiles Controlled by the Alternative Splicing Factor Nova2 in Endothelial Cells

Belloni, E., Matteo, A. D., Pradella, D., Vacca, M., Wyatt, C. D. R., Alfieri, R. R., Maffia, A., Sabbioneda, S., & Ghigna, C. (2019) · Cells · doi:10.3390/cells8121498 · Cited by 15 · see citing works

Regulation of Tissue-Specific Alternative Splicing: C. elegans as a Model System

Gracida, X., Norris, A. D., & Calarco, J. A. (2016) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-29073-7_10 · Cited by 14 · see citing works

Drosophila

Baines, R., Giachello, C. N., & Lin, W. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804066-9.00024-9 · Cited by 12 · see citing works

The Genetic Control of Stoichiometry Underlying Autism

Darnell, R. B. (2020) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-100119-024851 · Cited by 12 · see citing works

Regulating Divergent Transcriptomes through mRNA Splicing and Its Modulation Using Various Small Compounds

Fujita, K., Ishizuka, T., Mitsukawa, M., Kurata, M., & Masuda, S. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21062026 · Cited by 12 · see citing works

Splice-switching antisense oligonucleotides for pediatric neurological disorders

Zhang, X. (2024) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2024.1412964 · Cited by 9 · see citing works

Large-scale RNA-Seq mining reveals ciclopirox olamine induces TDP-43 cryptic exons

Sinha, I. R., Sandal, P. S., Spence, H., Burns, G. D., Mallika, A. P., Abbasinejad, F., Irwin, K. E., Cruz, A. L., Wang, V., Marx, S. R., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-62004-5 · Cited by 18 · see citing works

Unique transcriptomes of sensory and non-sensory neurons: insights from Splicing Regulatory States

Ciampi, L., Serrano, L. G., & Irimia, M. (2024) · Molecular Systems Biology · doi:10.1038/s44320-024-00020-1 · Cited by 10 · see citing works

Evolution Increases Primates Brain Complexity Extending RbFOX1 Splicing Activity to LSD1 Modulation

Forastieri, C., Italia, M., Toffolo, E., Romito, E., Bonasoni, M. P., Ranzani, V., Bodega, B., Rusconi, F., & Battaglioli, E. (2022) · Journal of Neuroscience · doi:10.1523/jneurosci.1782-21.2022 · Cited by 7 · see citing works

NOVA1 acts as an oncogenic RNA-binding protein to regulate cholesterol homeostasis in human glioblastoma cells

Saito, Y., Yang, Y., Saito, M., Park, C. Y., Funato, K., Tabar, V. S., & Darnell, R. B. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2314695121 · Cited by 6 · see citing works

Large-scale RNA-seq mining reveals ciclopirox triggers TDP-43 cryptic exonsPreprint

Sinha, I. R., Sandal, P. S., Burns, G. D., Mallika, A. P., Irwin, K. E., Cruz, A. L., Wang, V., Rodríguez, J. L., Wong, P. C., & Ling, J. P. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.03.27.587011 · Cited by 7 · see citing works

Neuro-oncological Ventral Antigen 2 Regulates Splicing of Vascular Endothelial Growth Factor Receptor 1 and Is Required for Endothelial Function

Kremer, V., Oppelaar, J. J., Gimbel, A. T., Koziarek, S., Ganzevoort, W., van Pampus, M. G., van den Born, B. H., Vogt, L., de Groot, C. J. M., & Boon, R. A. (2022) · Reproductive Sciences · doi:10.1007/s43032-022-01044-4 · Cited by 6 · see citing works

Molecular subtyping based on hippocampal cryptic exon burden reveals proteome-wide changes associated with TDP-43 pathology across the spectrum of LATE and Alzheimer’s DiseasePreprint

Trautwig, A. N., Shantaraman, A., Chung, M., Dammer, E. B., Ping, L., Duong, D. M., Petrucelli, L., Ward, M. E., Glass, J. D., Nelson, P. T., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.05.30.656396 · Cited by 6 · see citing works

Phosphorylated Upstream Frameshift 1–dependent Nonsense-mediated μ-Opioid Receptor mRNA Decay in the Spinal Cord Contributes to the Development of Neuropathic Allodynia–like Behavior in Rats

Hsieh, M., Lai, C., Yeh, C.-M., Yang, P., Cheng, J., Wang, H.-H., Lin, K., Nie, S.-T., Lin, T., & Peng, H. (2023) · Anesthesiology · doi:10.1097/aln.0000000000004550 · Cited by 5 · see citing works

Alternative Splicing and CaV ‐Associated Channelopathies

Munyao, W., Rahman, M. M., Sabzanov, S., Chu, E. H., Wang, R., Wang, Z., Yu, Y., & Ruggiu, M. (2025) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.70016 · Cited by 4 · see citing works

Multiomics of early epileptogenesis in mice reveals phosphorylation and dephosphorylation-directed growth and synaptic weakening

Silva, M. H., Waardenberg, A. J., Mostafa, A., Schoch, S., Dietrich, D., & Graham, M. E. (2024) · iScience · doi:10.1016/j.isci.2024.109534 · Cited by 2 · see citing works

Recent advances in RNA-based therapeutics for neurodevelopmental disorders

Tirumala, H. P., & Zoghbi, H. Y. (2025) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2025.102339 · Cited by 3 · see citing works

Tracks through the genome to physiological events

Lipscombe, D., Pan, J. Q., & Schorge, S. (2015) · Experimental Physiology · doi:10.1113/ep085129 · Cited by 3 · see citing works

‘Cryptic’ exons reveal some of their secrets

Calarco, J. A. (2013) · eLife · doi:10.7554/elife.00476 · Cited by 3 · see citing works

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizuresPreprint

Hua, M., Aghanoori, M., MacPherson, M. J., Ren, Y., Yang, Y., Or, Y. Y., Williams, L., Gafuik, C. J., Quēlin, C., Keren, B., et al. (2025) · medRxiv · doi:10.1101/2025.06.20.25329512 · Cited by 3 · see citing works

Subtyping based on hippocampal cryptic exon burden reveals proteome-wide changes associated with TDP-43 and Alzheimer’s disease pathology

Trautwig, A. N., Shantaraman, A., Chung, M., Dammer, E. B., Ping, L., Duong, D. M., Watson, C. M., Petrucelli, L., Ward, M. E., Glass, J. D., et al. (2026) · Cell Reports · doi:10.1016/j.celrep.2026.117142 · Cited by 2 · see citing works

Regulation of Eukaryotic Gene Expression Through Functional Coupling Between Alternative Splicing and Nonsense-mediated Decay

Yap, K., Ramakumar, S., Hamid, F., & Makeyev, E. V. (2026) · Journal of Molecular Biology · doi:10.1016/j.jmb.2026.169764 · Cited by 2 · see citing works

TDP-43: [GU]-ardian of the transcriptome

Sinha, I. R., Atkinson, A. L., Irwin, K. E., Ling, J. P., & Wong, P. C. (2026) · Molecular Neurodegeneration · doi:10.1186/s13024-026-00944-2 · Cited by 2 · see citing works

Regulation of voltage-gated sodium channel expression, control of excitability and implications for seizure generation

Baines, R., & Lin, W. (2017) · Current Opinion in Physiology · doi:10.1016/j.cophys.2017.12.002 · Cited by 2 · see citing works

Neuron-specific cTag-CLIP reveals cell-specific diversity of functional RNA regulation in the brainPreprint

Saito, Y., Yuan, Y., Zucker-Scharff, I., Fak, J. J., Tajima, Y., Licatalosi, D. D., & Darnell, R. B. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/244905 · Cited by 2 · see citing works

Poison exon splicing in the human brain: a new paradigm for understanding and targeting neurological disordersPreprint

Pigini, P., Xu, H., Ji, Y., Lindmeier, H., Saltzman, H. R., Shull, H., Yun, S., Alves, C. R. R., Walker, M. A., Silva, M. C., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.06.26.661736 · Cited by 2 · see citing works

Interaction of the C9orf72-Amyotrophic Lateral Sclerosis-Related Proline–Arginine Dipeptide Repeat Protein with the RNA-Binding Protein NOVA1 Causes Decreased Expression of UNC13A Due to Enhanced Inclusion of Cryptic Exons, Which Is Reversed by Betulin Treatment

Fu, R., Chen, H., & Hong, S. (2023) · Cells · doi:10.3390/cells12202476 · Cited by 1 · see citing works

A comparison of basal and activity-dependent exon splicing in cortical-patterned neurons of human and mouse origin

Dando, O., McQueen, J., Burr, K., Kind, P. C., Chandran, S., Hardingham, G. E., & Qiu, J. (2024) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2024.1392408 · Cited by 1 · see citing works

Nova autoregulation reveals dual functions in neuronal splicing

Dredge, B. K., Stefani, G., Engelhard, C. C., & Darnell, R. B. (2005) · The EMBO Journal · doi:10.1038/sj.emboj.7600630 · Cited by 125 · see citing works

‘Cryptic’ exons reveal some of their secrets

Calarco, J. A. (2013) · eLife · doi:10.7554/elife.00476 · Cited by 3 · see citing works

The neuronal splicing factor Nova co-localizes with target RNAs in the dendrite

Racca, C. (2010) · Frontiers in Neural Circuits · doi:10.3389/neuro.04.005.2010 · Cited by 69 · see citing works

Nova regulates brain-specific splicing to shape the synapse

Ule, J., Ule, A., Spencer, J., Williams, A., Hu, J.-S., Cline, M., Wang, H., Clark, T., Fraser, C., Ruggiu, M., et al. (2005) · Nature Genetics · doi:10.1038/ng1610 · Cited by 509 · see citing works

Nova Regulation of Alternative Splicing in the CNS

Dredge, B. K. (2025) · Digital Commons - RU (Rockefeller University) · doi:10.48496/9qj7-0352