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Directed differentiation of embryonic stem cells into motor neurons.

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CLIP Identifies Nova-Regulated RNA Networks in the Brain

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Paraneoplastic Syndromes Involving the Nervous System

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

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

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

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

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Control of ACh sensitivity by muscle activity in the rat

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Function of alternative splicing

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RNA processing and its regulation: global insights into biological networks

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Function of alternative splicing

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Functional consequences of developmentally regulated alternative splicing

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To build a synapse: signaling pathways in neuromuscular junction assembly

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

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

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

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The neurogenetics of alternative splicing

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

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Disruption of RNA Metabolism in Neurological Diseases and Emerging Therapeutic Interventions

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

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

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

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

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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

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Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy

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

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

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RNA Protein Interaction in Neurons

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

Paraneoplastic encephalomyelopathies: pathology and mechanisms

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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

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

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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

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

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

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 122

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

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 116

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 126

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

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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 94

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

Neural antigen‐specific autoimmune disorders

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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 82

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

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

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 78

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 76

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

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

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

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 70

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

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 70

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

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 65

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

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

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

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 51

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

Aberrant splicing in neurological diseases

Feng, D., & Xie, J. (2013) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1184 · Cited by 44

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

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

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 40

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

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 40

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 37

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

Alternative splicing programming of axon formation

Zheng, S. (2020) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1585 · Cited by 36

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 34

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 34

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

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

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 29

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

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 28

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

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

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

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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

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

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

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 22

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

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

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

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 20

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

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

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

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

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 12

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

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

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Cholinergic regulation of striatal Nova mRNAs

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

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

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Neurodevelopmental disorders: 2022 update

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

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Alternative Splicing and CaV ‐Associated Channelopathies

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

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

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RNA biology: Alternative splicing hits synaptic function and behavior

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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

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

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

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NMJ-related diseases beyond the congenital myasthenic syndromes

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Regulating mRNA complexity in the mammalian brain

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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

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

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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

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Defective neuromuscular synaptogenesis in agrin-deficient mutant mice.

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