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

Directed differentiation of embryonic stem cells into motor neurons.

Wichterle, H., Lieberam, I., Porter, J. A., & Jessell, T. (2002) · Cell · doi:10.1016/s0092-8674(02)00835-8 · Cited by 1,792 · 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 · 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

Paraneoplastic Syndromes Involving the Nervous System

Darnell, R. B., & Posner, J. B. (2003) · New England Journal of Medicine · doi:10.1056/nejmra023009 · Cited by 1,055 · see citing works

Defective Neuromuscular Synaptogenesis in Agrin-Deficient Mutant Mice

Gautam, M., Noakes, P. G., Moscoso, L. M., Rupp, F., Scheller, R. H., Merlie, J. P., & Sanes, J. R. (1996) · Cell · doi:10.1016/s0092-8674(00)81253-2 · Cited by 933 · see citing works

The Receptor Tyrosine Kinase MuSK Is Required for Neuromuscular Junction Formation In Vivo

DeChiara, T. M., Bowen, D. C., Valenzuela, D. M., Simmons, M. V., Poueymirou, W. T., Thomas, S., Kinetz, E., Compton, D. L., Rojas, E., Park, J. S., et al. (1996) · Cell · doi:10.1016/s0092-8674(00)81251-9 · Cited by 912 · see citing works

Lrp4 is a receptor for Agrin and forms a complex with MuSK

Kim, N., Stiegler, A. L., Cameron, T. O., Hallock, P. T., Gomez, A. M., Huang, J. H., Hubbard, S. R., Dustin, M. L., & Burden, S. J. (2008) · Cell · doi:10.1016/j.cell.2008.10.002 · Cited by 676 · see citing works

Requirement for the Homeobox Gene Hb9 in the Consolidation of Motor Neuron Identity

Arber, S., Han, B., Mendelsohn, M. M., Smith, M., Jessell, T. M., & Sockanathan, S. (1999) · Neuron · doi:10.1016/s0896-6273(01)80026-x · Cited by 607 · see citing works

Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse

Lin, W., Burgess, R. W., Dominguez, B., Pfaff, S. L., Sanes, J. R., & Lee, K. (2001) · Nature · doi:10.1038/35074025 · Cited by 534 · see citing works

Control of ACh sensitivity by muscle activity in the rat

Lømo, T., & Rosenthal, J. (1972) · The Journal of Physiology · doi:10.1113/jphysiol.1972.sp009764 · Cited by 533 · 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

Patterning of Muscle Acetylcholine Receptor Gene Expression in the Absence of Motor Innervation

Yang, X., Arber, S., William, C. M., Li, L., Tanabe, Y., Jessell, T. M., Birchmeier, C., & Burden, S. J. (2001) · Neuron · doi:10.1016/s0896-6273(01)00287-2 · Cited by 479 · see citing works

Identification of agrin, a synaptic organizing protein from Torpedo electric organ.

Nitkin, R. M., Smith, M. A., Magill, C., Fallon, J. R., Yao, Y. M., Wallace, B. G., & McMahan, U. J. (1987) · The Journal of cell biology · doi:10.1083/jcb.105.6.2471 · Cited by 469 · 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

Receptor tyrosine kinase specific for the skeletal muscle lineage: Expression in embryonic muscle, at the neuromuscular junction, and after injury

Valenzuela, D. M., Stitt, T. N., DiStefano, P. S., Rojas, E., Mattsson, K., Compton, D. L., Nuñez, L., Park, J. S., Stark, J. L., Gies, D. R., et al. (1995) · Neuron · doi:10.1016/0896-6273(95)90146-9 · Cited by 417 · see citing works

A study of foetal and new‐born rat muscle fibres

Diamond, J. M., & Miledi, R. (1962) · The Journal of Physiology · doi:10.1113/jphysiol.1962.sp006941 · Cited by 411 · see citing works

Specification of Motor Neuron Identity by the MNR2 Homeodomain Protein

Tanabe, Y., William, C. M., & Jessell, T. M. (1998) · Cell · doi:10.1016/s0092-8674(00)81783-3 · Cited by 341 · 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

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

Lim, J., Crespo-Barreto, J., Jafar-Nejad, P., Bowman, A. B., Richman, R., Hill, D. E., Orr, H. T., & Zoghbi, H. Y. (2008) · Nature · doi:10.1038/nature06731 · Cited by 311 · see citing works

The ability of agrin to cluster AChRs depends on alternative splicing and on cell surface proteoglycans

Ferns, M., Campanelli, J. T., Hoch, W., Scheller, R. H., & Hall, Z. W. (1993) · Neuron · doi:10.1016/0896-6273(93)90153-i · Cited by 306 · see citing works

Assembly of the postsynaptic membrane at the neuromuscular junction: paradigm lost

Kummer, T. T., Misgeld, T., & Sanes, J. R. (2005) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2005.12.003 · Cited by 291 · 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

The agrin gene codes for a family of basal lamina proteins that differ in function and distribution

Rüegg, M. A., Tsim, K. W. K., Horton, S. E., Kröger, S., Escher, G., Gensch, E. M., & McMahan, U. J. (1992) · Neuron · doi:10.1016/0896-6273(92)90090-z · Cited by 254 · see citing works

Components of Torpedo electric organ and muscle that cause aggregation of acetylcholine receptors on cultured muscle cells.

Godfrey, E. W., Nitkin, R. M., Wallace, B. G., Rubin, L. L., & McMahan, U. J. (1984) · The Journal of Cell Biology · doi:10.1083/jcb.99.2.615 · Cited by 250 · 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

Alternatively Spliced Isoforms of Nerve- and Muscle-Derived Agrin

Burgess, R. W., Nguyen, Q. T., Son, Y., Lichtman, J. W., & Sanes, J. R. (1999) · Neuron · doi:10.1016/s0896-6273(00)80751-5 · Cited by 247 · see citing works

Acetylcholine receptor-aggregating activity of agrin isoforms and mapping of the active site.

Gesemann, M., Denzer, A. J., & Ruegg, M. A. (1995) · The Journal of cell biology · doi:10.1083/jcb.128.4.625 · Cited by 236 · see citing works

Neurotransmitter Acetylcholine Negatively Regulates Neuromuscular Synapse Formation by a Cdk5-Dependent Mechanism

Lin, W., Dominguez, B., Yang, J., Aryal, P., Brandon, E. P., Gage, F. H., & Lee, K. (2005) · Neuron · doi:10.1016/j.neuron.2005.04.002 · Cited by 224 · 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

Agrin promotes synaptic differentiation by counteracting an inhibitory effect of neurotransmitter

Misgeld, T., Kummer, T. T., Lichtman, J. W., & Sanes, J. R. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0504806102 · Cited by 218 · see citing works

RNA splicing regulates agrin-mediated acetylcholine receptor clustering activity on cultured myotubes

Ferns, M., Hoch, W., Campanelli, J. T., Rupp, F., Hall, Z. W., & Scheller, R. H. (1992) · Neuron · doi:10.1016/0896-6273(92)90129-2 · Cited by 212 · see citing works

The onconeural antigen Nova-1 is a neuron-specific RNA-binding protein, the activity of which is inhibited by paraneoplastic antibodies

Buckanovich, R., Yang, Y., & Darnell, R. (1996) · The Journal of Neuroscience · doi:10.1523/jneurosci.16-03-01114.1996 · Cited by 192 · 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

Nerve-independent formation of a topologically complex postsynaptic apparatus

Kummer, T. T., Misgeld, T., Lichtman, J. W., & Sanes, J. R. (2004) · The Journal of Cell Biology · doi:10.1083/jcb.200401115 · Cited by 159 · see citing works

Common Molecular Pathways Mediate Long-Term Potentiation of Synaptic Excitation and Slow Synaptic Inhibition

Huang, C. S., Shi, S.-H., Ule, J., Ruggiu, M., Barker, L. A., Darnell, R. B., Jan, Y. N., & Jan, L. Y. (2005) · Cell · doi:10.1016/j.cell.2005.07.033 · 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

An amino-terminal extension is required for the secretion of chick agrin and its binding to extracellular matrix.

Denzer, A. J., Gesemann, M., Schumacher, B., & Rüegg, M. A. (1995) · The Journal of Cell Biology · doi:10.1083/jcb.131.6.1547 · Cited by 129 · 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

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

An Intrinsic Distinction in Neuromuscular Junction Assembly and Maintenance in Different Skeletal Muscles

Pun, S., Sigrist, M., Santos, A. F., Rüegg, M. A., Sanes, J. R., Jessell, T. M., Arber, S., & Caroni, P. (2002) · Neuron · doi:10.1016/s0896-6273(02)00670-0 · Cited by 118 · see citing works

Synapse Loss in Cortex of Agrin-Deficient Mice after Genetic Rescue of Perinatal Death

Ksiazek, I., Burkhardt, C., Lin, S., Seddik, R., Maj, M., Bezáková, G., Jucker, M., Arber, S., Caroni, P., Sanes, J. R., et al. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.1609-07.2007 · Cited by 115 · see citing works

Patterning of skeletal muscle

Arber, S., Burden, S. J., & Harris, A. (2002) · Current Opinion in Neurobiology · doi:10.1016/s0959-4388(02)00296-9 · Cited by 58 · 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

Evidence for Muscle-Dependent Neuromuscular Synaptic Site Determination in Mammals

Vock, V. M., Ponomareva, O. N., & Rimer, M. (2008) · Journal of Neuroscience · doi:10.1523/jneurosci.5080-07.2008 · Cited by 31 · see citing works

Development of the neuromuscular synapse

Jennings, C. G. B., & Burden, S. J. (1993) · Current Opinion in Neurobiology · doi:10.1016/0959-4388(93)90038-z · Cited by 27 · see citing works

Neuregulin Effect on Quantal Content Dissociated From Effect on Miniature Endplate Potential Amplitude

Mann, M. A., Das, S., Zhang, J., Wagner, M., & Fischbach, G. D. (2006) · Journal of Neurophysiology · doi:10.1152/jn.00225.2006 · Cited by 4 · see citing works

Function of alternative splicing

Stamm, S., Ben‐Ari, S., Rafalska, I., Tang, Y., Zhang, Z., Toiber, D., Thanaraj, T. A., & Soreq, H. (2004) · Gene · doi:10.1016/j.gene.2004.10.022 · Cited by 1,373 · 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

Function of alternative splicing

Kelemen, O., Convertini, P., Zhang, Z., Wen, Y., Shen, M., Falaleeva, M., & Stamm, S. (2013) · Gene · doi:10.1016/j.gene.2012.07.083 · Cited by 743 · see citing works

Functional consequences of developmentally regulated alternative splicing

Kalsotra, A., & Cooper, T. A. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3052 · Cited by 729 · see citing works

To build a synapse: signaling pathways in neuromuscular junction assembly

Wu, H., Xiong, W., & Mei, L. (2010) · Development · doi:10.1242/dev.038711 · Cited by 519 · 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

An atlas of alternative splicing profiles and functional associations reveals new regulatory programs and genes that simultaneously express multiple major isoformsPreprint

Tapial, J., Ha, K., Sterne-Weiler, T., Gohr, A., Braunschweig, U., Hermoso, A., Quesnel-Vallières, M., Permanyer, J., Sodaei, R., Márquez, Y., et al. (2017) · Genome Research · doi:10.1101/gr.220962.117 · Cited by 427 · 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

The neurogenetics of alternative splicing

Vuong, C. K., Black, D. L., & Zheng, S. (2016) · Nature Reviews Neuroscience · doi:10.1038/nrn.2016.27 · Cited by 340 · see citing works

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

Rogelj, B., Easton, L. E., Bogu, G. K., Stanton, L. W., Rot, G., Curk, T., Zupan, B., Sugimoto, Y., Modic, M., Haberman, N., et al. (2012) · Scientific Reports · doi:10.1038/srep00603 · Cited by 278 · see citing works

Disruption of RNA Metabolism in Neurological Diseases and Emerging Therapeutic Interventions

Nussbacher, J. K., Tabet, R., Yeo, G. W.-M., & Lagier‐Tourenne, C. (2019) · Neuron · doi:10.1016/j.neuron.2019.03.014 · Cited by 264 · see citing works

Analysis of alternative splicing associated with aging and neurodegeneration in the human brain

Tollervey, J. R., Wang, Z., Hortobágyi, T., Witten, J. T., Zarnack, K., Kayikci, M., Clark, T. A., Schweitzer, A. C., Rot, G., Curk, T., et al. (2011) · Genome Research · doi:10.1101/gr.122226.111 · Cited by 252 · see citing works

Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss

Scekic‐Zahirovic, J., Sendscheid, O., Oussini, H. E., Jambeau, M., Sun, Y., Mersmann, S., Wagner, M., Dieterle, S., Sinniger, J., Dirrig‐Grosch, S., et al. (2016) · The EMBO Journal · doi:10.15252/embj.201592559 · Cited by 239 · 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

The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function

Gehman, L. T., Meera, P., Stoilov, P., Shiue, L., O'Brien, J. E., Meisler, M. H., Ares, M., Otis, T. S., & Black, D. L. (2012) · Genes & Development · doi:10.1101/gad.182477.111 · Cited by 213 · see citing works

The Survival of Motor Neuron (SMN) Protein Interacts with the mRNA-Binding Protein HuD and Regulates Localization of Poly(A) mRNA in Primary Motor Neuron Axons

Fallini, C., Zhang, H., Su, Y., Silani, V., Singer, R. H., Rossoll, W., & Bassell, G. J. (2011) · The Journal of Neuroscience · doi:10.1523/jneurosci.3631-10.2011 · Cited by 221 · see citing works

Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy

Tisdale, S., & Pellizzoni, L. (2015) · Journal of Neuroscience · doi:10.1523/jneurosci.0417-15.2015 · Cited by 187 · 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

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy

Zhang, Z., Pinto, A. M., Wan, L., Wang, W., Berg, M. G., Oliva, I. B., Singh, L. N., Dengler, C. G., Wei, Z., & Dreyfuss, G. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1319280110 · Cited by 182 · 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

Paraneoplastic encephalomyelopathies: pathology and mechanisms

McKeon, A. B., & Pittock, S. J. (2011) · Acta Neuropathologica · doi:10.1007/s00401-011-0876-1 · Cited by 164 · see citing works

Essential roles for the splicing regulator nSR100/SRRM4 during nervous system development

Quesnel-Vallières, M., Irimia, M., Cordes, S. P., & Blencowe, B. J. (2015) · Genes & Development · doi:10.1101/gad.256115.114 · Cited by 155 · see citing works

Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junction

Singhal, N., & Martin, P. T. (2011) · Developmental Neurobiology · doi:10.1002/dneu.20953 · Cited by 141 · see citing works

Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons

Lee, Y. I., Mikesh, M., Smith, I., Rimer, M., & Thompson, W. J. (2011) · Developmental Biology · doi:10.1016/j.ydbio.2011.05.667 · Cited by 130 · see citing works

Agrin and Synaptic Laminin Are Required to Maintain Adult Neuromuscular Junctions

Samuel, M. A., Valdez, G., Tapia, J. C., Lichtman, J. W., & Sanes, J. R. (2012) · PLoS ONE · doi:10.1371/journal.pone.0046663 · Cited by 129 · see citing works

Rbfox3-regulated alternative splicing of Numb promotes neuronal differentiation during development

Kim, K. K., Nam, J., Mukouyama, Y.-S., & Kawamoto, S. (2013) · Journal of Cell Biology · doi:10.1083/jcb.201206146 · Cited by 120 · 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

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

Eom, T., Zhang, C., Wang, H., Lay, K., Fak, J., Noebels, J. L., & Darnell, R. B. (2013) · eLife · doi:10.7554/elife.00178 · Cited by 118 · see citing works

Quantitative analysis of cryptic splicing associated with TDP-43 depletion

Humphrey, J., Emmett, W., Fratta, P., Isaacs, A. M., & Plagnol, V. (2017) · BMC Medical Genomics · doi:10.1186/s12920-017-0274-1 · Cited by 113 · see citing works

Single-cell long-read sequencing-based mapping reveals specialized splicing patterns in developing and adult mouse and human brain

Joglekar, A., Hu, W., Zhang, B., Narykov, O., Diekhans, M., Marrocco, J., Balacco, J., Ndhlovu, L. C., Milner, T. A., Fedrigo, O. D., et al. (2024) · Nature Neuroscience · doi:10.1038/s41593-024-01616-4 · Cited by 122 · see citing works

Emerging Roles of Alternative Pre-mRNA Splicing Regulation in Neuronal Development and Function

Norris, A. D., & Calarco, J. A. (2012) · Frontiers in Neuroscience · doi:10.3389/fnins.2012.00122 · Cited by 98 · see citing works

High-resolution temporal and regional mapping of MAPT expression and splicing in human brain development

Hefti, M. M., Farrell, K. W., Kim, S., Bowles, K. R., Fowkes, M. E., Raj, T., & Crary, J. F. (2018) · PLoS ONE · doi:10.1371/journal.pone.0195771 · Cited by 86 · see citing works

The Tissue-Specific RNA Binding Protein T-STAR Controls Regional Splicing Patterns of Neurexin Pre-mRNAs in the Brain

Ehrmann, I., Dalgliesh, C., Liu, Y., Danilenko, M., Crosier, M., Overman, L., Arthur, H. M., Lindsay, S., Clowry, G. J., Venables, J. P., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003474 · Cited by 82 · see citing works

Neural antigen‐specific autoimmune disorders

Iorio, R., & Lennon, V. A. (2012) · Immunological Reviews · doi:10.1111/j.1600-065x.2012.01144.x · Cited by 82 · see citing works

Neuron-specific alternative splicing of transcriptional machineries: Implications for neurodevelopmental disorders

Porter, R. S., Jaamour, F., & Iwase, S. (2017) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2017.10.006 · Cited by 80 · see citing works

NOVA2 regulates neural circRNA biogenesis

Knupp, D., Cooper, D. A., Saito, Y., Darnell, R. B., & Miura, P. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab523 · Cited by 76 · 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

Alternative splicing in Alzheimer’s disease

Biamonti, G., Amato, A. M., Belloni, E., Matteo, A. D., Infantino, L., Pradella, D., & Ghigna, C. (2019) · Aging Clinical and Experimental Research · doi:10.1007/s40520-019-01360-x · Cited by 77 · see citing works

MiR-181b-5p Downregulates NOVA1 to Suppress Proliferation, Migration and Invasion and Promote Apoptosis in Astrocytoma

Zhi, F., Wang, Q., Deng, D., Shao, N., Wang, R., Xue, L., Wang, S., Xia, X., & Yang, Y. (2014) · PLoS ONE · doi:10.1371/journal.pone.0109124 · Cited by 75 · see citing works

Networking in a global world: establishing functional connections between neural splicing regulators and their target transcripts

Calarco, J. A., Zhen, M., & Blencowe, B. J. (2011) · RNA · doi:10.1261/rna.2603911 · Cited by 72 · see citing works

An alternative splicing program promotes adipose tissue thermogenesis

Vernia, S., Edwards, Y. J. K., Han, M. S., Cavanagh, J., Barrett, T., Kim, J. K., & Davis, R. J. (2016) · eLife · doi:10.7554/elife.17672 · Cited by 71 · 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

Genome-wide association study of antipsychotic-induced parkinsonism severity among schizophrenia patients

Alkelai, A., Greenbaum, L., Rigbi, A., Kanyas, K., & Lerer, B. (2009) · Psychopharmacology · doi:10.1007/s00213-009-1627-z · Cited by 69 · see citing works

NOVA regulates Dcc alternative splicing during neuronal migration and axon guidance in the spinal cord

Leggere, J. C., Saito, Y., Darnell, R. B., Tessier-Lavigne, M., Junge, H. J., & Chen, Z. (2016) · eLife · doi:10.7554/elife.14264 · Cited by 67 · 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

An RNA-binding protein, Qki5, regulates embryonic neural stem cells through pre-mRNA processing in cell adhesion signalingPreprint

Hayakawa‐Yano, Y., Suyama, S., Nogami, M., Yugami, M., Koya, I., Furukawa, T., Zhou, L., Abe, M., Sakimura, K., Takebayashi, H., et al. (2017) · Genes & Development · doi:10.1101/gad.300822.117 · Cited by 63 · 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

The alternative splicing factor Nova2 regulates vascular development and lumen formation

Giampietro, C., Deflorian, G., Gallo, S., Matteo, A. D., Pradella, D., Bonomi, S., Belloni, E., Nyqvist, D., Quaranta, V., Confalonieri, S., et al. (2015) · Nature Communications · doi:10.1038/ncomms9479 · Cited by 60 · see citing works

Increasing Agrin Function Antagonizes Muscle Atrophy and Motor Impairment in Spinal Muscular Atrophy

Boido, M., Amicis, E. D., Valsecchi, V., Trevisan, M., Ala, U., Rüegg, M. A., Hettwer, S., & Vercelli, A. (2018) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2018.00017 · Cited by 60 · see citing works

Agrin-LRP4-MuSK signaling as a therapeutic target for myasthenia gravis and other neuromuscular disorders

Ohno, K., Ohkawara, B., & Ito, M. (2017) · Expert Opinion on Therapeutic Targets · doi:10.1080/14728222.2017.1369960 · Cited by 56 · see citing works

Understanding neuronal connectivity through the post-transcriptional toolkitPreprint

Loya, C. M., Vactor, D. V., & Fulga, T. A. (2010) · Genes & Development · doi:10.1101/gad.1907710 · Cited by 50 · see citing works

Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice

Kim, J.-K., Caine, C., Awano, T., Herbst, R., & Monani, U. R. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx124 · Cited by 45 · see citing works

Aberrant splicing in neurological diseases

Feng, D., & Xie, J. (2013) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1184 · Cited by 43 · see citing works

Control of a neuronal morphology program by an RNA-binding zinc finger protein, UnkemptPreprint

Murn, J., Zarnack, K., Yang, Y. J., Durak, O., Murphy, E. A., Cheloufi, S., Gonzalez, D. M., Teplova, M., Curk, T., Zuber, J. A., et al. (2015) · Genes & Development · doi:10.1101/gad.258483.115 · Cited by 41 · see citing works

Alternative Splicing by NOVA Factors: From Gene Expression to Cell Physiology and Pathology

Meldolesi, J. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21113941 · Cited by 42 · 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

The Alternative Splicing Regulator Nova2 Constrains Vascular Erk Signaling to Limit Specification of the Lymphatic Lineage

Baek, S., Oh, T. G., Secker, G. A., Sutton, D. L., Okuda, K. S., Paterson, S., Bower, N. I., Toubia, J., Koltowska, K., Capon, S. J., et al. (2019) · Developmental Cell · doi:10.1016/j.devcel.2019.03.017 · Cited by 39 · see citing works

Pre-mRNA splicing order is predetermined and maintains splicing fidelity across multi-intronic transcripts

Choquet, K., Baxter‐Koenigs, A. R., Dülk, S.-L., Smalec, B. M., Rouskin, S., & Churchman, L. S. (2023) · Nature Structural & Molecular Biology · doi:10.1038/s41594-023-01035-2 · Cited by 39 · 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

The Onconeural Antigen cdr2 Is a Novel APC/C Target that Acts in Mitosis to Regulate C-Myc Target Genes in Mammalian Tumor Cells

O’Donovan, K. J., Diedler, J., Couture, G. C., Fak, J. J., & Darnell, R. B. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010045 · Cited by 38 · see citing works

Alternative splicing programming of axon formation

Zheng, S. (2020) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1585 · Cited by 34 · see citing works

The role of RNA processing in the pathogenesis of motor neuron degeneration

Bäumer, D., Ansorge, O., Almeida, M., & Talbot, K. (2010) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399410001523 · Cited by 33 · see citing works

CLIPing the brain: Studies of protein–RNA interactions important for neurodegenerative disorders

Modic, M., Ule, J., & Sibley, C. R. (2013) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2013.04.002 · Cited by 33 · see citing works

Emerging mechanisms and consequences of calcium regulation of alternative splicing in neurons and endocrine cells

Razanau, A., & Xie, J. (2013) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-013-1390-5 · Cited by 32 · see citing works

Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells

Boone, N., Bergon, A., Loriod, B., Devèze, A., Nguyen, C., Axelrod, F. B., & Ibrahim, E. C. (2011) · Human Mutation · doi:10.1002/humu.22010 · Cited by 30 · see citing works

RNA binding proteins in senescence: A potential common linker for age-related diseases?

Varesi, A., Campagnoli, L. I. M., Barbieri, A., Rossi, L., Ricevuti, G., Esposito, C., Chirumbolo, S., Marchesi, N., & Pascale, A. (2023) · Ageing Research Reviews · doi:10.1016/j.arr.2023.101958 · Cited by 28 · see citing works

Splicing Regulation of Pro-Inflammatory Cytokines and Chemokines: At the Interface of the Neuroendocrine and Immune Systems

Shakola, F., Suri, P., & Ruggiu, M. (2015) · Biomolecules · doi:10.3390/biom5032073 · Cited by 28 · see citing works

Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction

Ohno, K., Rahman, M. A., Nazim, M., Nasrin, F., Lin, Y., Takeda, J., & Masuda, A. (2017) · Journal of Neurochemistry · doi:10.1111/jnc.13954 · Cited by 27 · see citing works

Cytoplasmic pool of U1 spliceosome protein SNRNP70 shapes the axonal transcriptome and regulates motor connectivity

Nikolaou, N., Gordon, P. M., Hamid, F., Taylor, R., Lloyd-Jones, J., Makeyev, E. V., & Houart, C. (2022) · Current Biology · doi:10.1016/j.cub.2022.10.048 · Cited by 26 · see citing works

Alternative Pre-mRNA Splicing

Wagner, S. D., & Berglund, J. A. (2014) · Methods in molecular biology · doi:10.1007/978-1-62703-980-2_4 · Cited by 24 · see citing works

Sevoflurane inhibits neuronal migration and axon growth in the developing mouse cerebral cortex

Chai, D., Yan, J., Li, C., Sun, Y., & Jiang, H. (2020) · Aging · doi:10.18632/aging.103041 · Cited by 23 · see citing works

Peptide matching between Epstein-Barr virus and human proteins

Capone, G., Calabrò, M., Lucchese, G., Fasano, C., Girardi, B., Polimeno, L., & Kanduc, D. (2013) · Pathogens and Disease · doi:10.1111/2049-632x.12066 · Cited by 23 · see citing works

MicroRNA‐193a‐5p exerts a tumor suppressor role in glioblastoma via modulating NOVA1

Jin, L., Li, H., Wang, J., Lin, D., Yin, K., Lin, L., Lin, Z., Lin, G., Wang, H., Ying, X., et al. (2018) · Journal of Cellular Biochemistry · doi:10.1002/jcb.27906 · Cited by 22 · see citing works

Cell type-specific CLIP reveals that NOVA regulates cytoskeleton interactions in motoneurons

Yuan, Y., Xie, S., Darnell, J. C., Darnell, A., Saito, Y., Phatnani, H. P., Murphy, E. A., Zhang, C., Maniatis, T., & Darnell, R. B. (2018) · Genome biology · doi:10.1186/s13059-018-1493-2 · Cited by 21 · 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

MicroRNA screening identifies a link between NOVA1 expression and low level of IKAP/ELP1 in Familial dysautonomia

Hervé, M., & Ibrahim, E. C. (2016) · Disease Models & Mechanisms · doi:10.1242/dmm.025841 · Cited by 19 · see citing works

Dietary supplementation with bovine-derived milk fat globule membrane lipids promotes neuromuscular development in growing rats

Markworth, J. F., Durainayagam, B. R., Figueiredo, V. C., Liu, K., Guan, J., MacGibbon, A. K. H., Fong, B., Fanning, A. C., Rowan, A., McJarrow, P., et al. (2017) · Nutrition & Metabolism · doi:10.1186/s12986-017-0161-y · Cited by 18 · see citing works

An RNA Switch of a Large Exon of Ninein Is Regulated by the Neural Stem Cell Specific-RNA Binding Protein, Qki5

Hayakawa‐Yano, Y., & Yano, M. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20051010 · Cited by 18 · see citing works

RNA-binding protein research with transcriptome-wide technologies in neural development

Yano, M., Ohtsuka, T., & Okano, H. (2014) · Cell and Tissue Research · doi:10.1007/s00441-014-1923-8 · Cited by 16 · 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

Quantitative analysis of cryptic splicing associated with TDP-43 depletionPreprint

Humphrey, J., Emmett, W., Fratta, P., Isaacs, A. M., & Plagnol, V. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/076117 · Cited by 15 · see citing works

Single-cell long-read mRNA isoform regulation is pervasive across mammalian brain regions, cell types, and developmentPreprint

Joglekar, A., Hu, W., Zhang, B., Narykov, O., Diekhans, M., Balacco, J., Ndhlovu, L. C., Milner, T. A., Fedrigo, O. D., Jarvis, E. D., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.04.02.535281 · Cited by 13 · see citing works

Post-transcriptional regulation of the transcriptional apparatus in neuronal development

Nazim, M. (2024) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2024.1483901 · Cited by 11 · see citing works

Alternative splicing in aging and Alzheimer's disease: Highlighting the role of tau and estrogen receptor α isoforms in the hypothalamus

Ishunina, T. A. (2021) · Handbook of clinical neurology · doi:10.1016/b978-0-12-819973-2.00012-5 · Cited by 11 · see citing works

Mapping of In Vivo RNA-Binding Sites by Ultraviolet (UV)-Cross-Linking Immunoprecipitation (CLIP)Preprint

Darnell, J. C., Mele, A., Hung, K. Y. S., & Darnell, R. B. (2018) · Cold Spring Harbor Protocols · doi:10.1101/pdb.top097931 · Cited by 12 · see citing works

Cholinergic regulation of striatal Nova mRNAs

Jelen, N., Ule, J., & Živin, M. (2010) · Neuroscience · doi:10.1016/j.neuroscience.2010.05.013 · Cited by 10 · 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

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

Neurodevelopmental disorders: 2022 update

Sabariego-Navarro, M., Fernández‐Blanco, Á., Sierra, C., & Dierssen, M. (2022) · Free Neuropathology · doi:10.17879/freeneuropathology-2022-3801 · Cited by 7 · see citing works

Cytoplasmic pool of spliceosome protein SNRNP70 regulates the axonal transcriptome and development of motor connectivityPreprint

Nikolaou, N., Gordon, P. M., Hamid, F., Taylor, R., Makeyev, E. V., & Houart, C. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.05.25.097444 · 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

NOVA1 promotes SMN2 exon 7 splicing by binding the UCAC motif and increases SMN protein expression

Du, L., Sun, J., Chen, Z., Shao, Y., & Chen, Z. (2022) · Neural Regeneration Research · doi:10.4103/1673-5374.339005 · Cited by 4 · see citing works

Radiolabeled Semi-quantitative RT-PCR Assay for the Analysis of Alternative Splicing of Interleukin Genes

Shakola, F., Byrne, S., Javed, K., & Ruggiu, M. (2014) · Methods in molecular biology · doi:10.1007/978-1-4939-0928-5_31 · Cited by 4 · see citing works

RNA biology: Alternative splicing hits synaptic function and behavior

Kiebler, M. A., & Ninkovic, J. (2022) · Current Biology · doi:10.1016/j.cub.2022.10.060 · Cited by 3 · see citing works

Nova1 or Bim Deficiency in Pancreatic β-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice

Brahma, M. K., Xiao, P., Popa, M. O., Negueruela, J., Vandenbempt, V., Demine, S., Cardozo, A. K., & Gurzov, E. N. (2022) · Nutrients · doi:10.3390/nu14183866 · Cited by 3 · see citing works

Agrin at the crossroads of aging: A pleiotropic regulator in age-related diseases

Yuan, J., Zhang, S., Han, D., & Dong, X. (2026) · Pharmacological Research · doi:10.1016/j.phrs.2026.108131 · Cited by 2 · see citing works

Neural Isoforms of Agrin Are Generated by Reduced PTBP1−RNA Interaction Network Spanning the Neuron−Specific Splicing Regions in AGRN

Bushra, S., Lin, Y., Joudaki, A., Ito, M., Ohkawara, B., Ohno, K., & Masuda, A. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24087420 · Cited by 2 · see citing works

NMJ-related diseases beyond the congenital myasthenic syndromes

Navarro-Martínez, A., Vicente‐García, C., & Carvajal, J. J. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1216726 · Cited by 2 · see citing works

Regulating mRNA complexity in the mammalian brain

Cooper, T. A. (2011) · Nature Genetics · doi:10.1038/ng.867 · Cited by 2 · see citing works

Neuron-specific Agrin splicing by Nova RNA-binding proteins regulates conserved neuromuscular junction development in chordates

Hossain, M. F., Popsuj, S., Vitrinel, B., Kaplan, N., Stolfi, A., Christiaen, L., & Ruggiu, M. (2025) · PLoS Biology · doi:10.1371/journal.pbio.3003392 · Cited by 1 · see citing works

Dissecting the Molecular Determinants that Mediate Protein/RNA Interactions at the Synapse

Mirkovic, J., Hossain, M. F., Stolfi, A., Wang, R., Stitzel, H., Christiaen, L., & Ruggiu, M. (2018) · The FASEB Journal · doi:10.1096/fasebj.2018.32.1_supplement.790.3

A conserved RNA switch for acetylcholine receptor clustering at neuromuscular junctions in chordatesPreprint

Hossain, M. F., Popsuj, S., Vitrinel, B., Kaplan, N., Stolfi, A., Christiaen, L., & Ruggiu, M. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.07.05.602308

Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice

Kim, J.-K., Caine, C., Awano, T., Herbst, R., & Monani, U. R. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx124 · Cited by 45 · see citing works

Defective Neuromuscular Synaptogenesis in Agrin-Deficient Mutant Mice

Gautam, M., Noakes, P. G., Moscoso, L. M., Rupp, F., Scheller, R. H., Merlie, J. P., & Sanes, J. R. (1996) · Cell · doi:10.1016/s0092-8674(00)81253-2 · Cited by 933 · see citing works