The DOI matches its Crossref record; 65 of the 65 references it cites were found in a registry or an index.
Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes
Open accessAbstract
Human genetic studies have identified the neuronal RNA binding protein, Rbfox1, as a candidate gene for autism spectrum disorders. While Rbfox1 functions as a splicing regulator in the nucleus, it is also alternatively spliced to produce cytoplasmic isoforms. To investigate the function of cytoplasmic Rbfox1, we knocked down Rbfox proteins in mouse neurons and rescued with cytoplasmic or nuclear Rbfox1. Transcriptome profiling showed that nuclear Rbfox1 rescued splicing changes, whereas cytoplasmic Rbfox1 rescued changes in mRNA levels. iCLIP-seq of subcellular fractions revealed that Rbfox1 bound predominantly to introns in nascent RNA, while cytoplasmic Rbox1 bound to 3' UTRs. Cytoplasmic Rbfox1 binding increased target mRNA stability and translation, and Rbfox1 and miRNA binding sites overlapped significantly. Cytoplasmic Rbfox1 target mRNAs were enriched in genes involved in cortical development and autism. Our results uncover a new Rbfox1 regulatory network and highlight the importance of cytoplasmic RNA metabolism to cortical development and disease.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“We also find significant enrichment of splicing changes in targets of two RNA binding proteins that regulate synaptic transmission and whose targets are implicated in both ASD and SCZ, the neuronal splicing regulator RBFOX1 (FDR=5.16×10−11) (32) and the fragile X mental retardation protein (FMRP) (FDR=3.10×10−21) (33).”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [32]
In the citing paper
“Experiments in mouse indicate that RBFOX1 has distinct nuclear and cytoplasmic isoforms with differing functions, the nuclear isoform primarily regulating pre-mRNA alternative splicing, and the cytoplasmic isoform binding to the 3’ UTR to stabilize target transcripts involved in regulation of neuronal excitability (28, 32, 58, 60).”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [32]
In the citing paper
“Here, we find that isoM17 shows greater enrichment for nuclear RBFOX1 targets (Fig 6C), whereas isoM2 shows stronger overlap with cytoplasmic targets (32).”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [32]
In the citing paper
“the protein encoded by RBFOX1 regulates the expression of 15 of the top 40 ranked genes (the probability of this event is p = 3.4e−05) [70].”
From An integrated analysis of genes and functional pathways for aggression in human and rodent models (2019) · cites this paper as [70]
In the citing paper
“many RNA-binding proteins controlling splicing choices also affect the choice of poly-A site and can also be found in the cytoplasm, where they control the translation or stability of target transcripts through binding in 3′ UTRs197”
From The neurogenetics of alternative splicing (2016) · cites this paper as [197]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing
Benjamini, Y., & Hochberg, Y. (1995) · Journal of the Royal Statistical Society Series B: Statistical Methodology · doi:10.1111/j.2517-6161.1995.tb02031.x · Cited by 109,482
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome.
Langmead, B., Trapnell, C., Pop, M., & Salzberg, S. L. (2009) · Genome Biology · doi:10.1186/gb-2009-10-3-r25 · Cited by 21,849
MicroRNAs: Target Recognition and Regulatory Functions
Bartel, D. P. (2009) · Cell · doi:10.1016/j.cell.2009.01.002 · Cited by 20,068
Trapnell, C., Williams, B. A., Pertea, G., Mortazavi, A., Kwan, G., van Baren, M. J., Salzberg, S. L., Wold, B. J., & Pachter, L. (2010) · Nature Biotechnology · doi:10.1038/nbt.1621 · Cited by 15,556
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
Self-citationFMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Darnell, J. C., Van Driesche, S. J., Zhang, C., Hung, K. Y. S., Mele, A., Fraser, C. E., Stone, E. F., Chen, C., Fak, J. J., Chi, S. W., et al. (2011) · Cell · doi:10.1016/j.cell.2011.06.013 · Cited by 2,072
Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology
Voineagu, I., Wang, X., Johnston, P., Lowe, J. K., Tian, Y., Horvath, S., Mill, J., Cantor, R. M., Blencowe, B. J., & Geschwind, D. H. (2011) · Nature · doi:10.1038/nature10110 · Cited by 1,874 · cited 24×
“Three of these coexpression modules, devM13, devM16, and devM17, were enriched for the GO term of synaptic transmission, as well as ASD susceptibility genes (Parikshak et al., 2013).”
BackgroundResultInfluentialSelf-citationXie, X., Lu, J., Kulbokas, E. J., Golub, T. R., Mootha, V., Lindblad-Toh, K., Lander, E. S., & Kellis, M. (2005) · Nature · doi:10.1038/nature03441 · Cited by 1,872
The molecular basis of CaMKII function in synaptic and behavioural memory
Lisman, J., Schulman, H., & Cline, H. (2002) · Nature Reviews Neuroscience · doi:10.1038/nrn753 · Cited by 1,860
Argonaute HITS-CLIP decodes microRNA–mRNA interaction maps
Chi, S. W., Zang, J. B., Mele, A., & Darnell, R. B. (2009) · Nature · doi:10.1038/nature08170 · Cited by 1,791
Cited by
Sorted by citations
eQTLGen, Wray, N. R., 23andMe, the Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Ripke, S., Mattheisen, M., Trzaskowski, M., Byrne, E. M., Abdellaoui, A., Adams, M. J., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0090-3 · Cited by 3,005
Alternative splicing as a regulator of development and tissue identity
Baralle, F. E., & Giudice, J. (2017) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2017.27 · Cited by 1,333
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
Gandal, M. J., Zhang, P., Hadjimichael, E., Walker, R. L., Chen, C., Liu, S., Won, H., van Bakel, H., Varghese, M., Wang, Y., et al. (2018) · Science · doi:10.1126/science.aat8127 · Cited by 1,247
Self-citationHuman Gut Microbiota from Autism Spectrum Disorder Promote Behavioral Symptoms in Mice
Sharon, G., Cruz, N. J., Kang, D.-W., Gandal, M. J., Wang, B., Kim, Y.-M., Zink, E. M., Casey, C. P., Taylor, B. C., Lane, C. J., et al. (2019) · Cell · doi:10.1016/j.cell.2019.05.004 · Cited by 1,182
Self-citationTardáguila, M., de la Fuente, L., Martí, C., Pereira, C., Pardo-Palacios, F. J., del Risco, H., Ferrell, M., Mellado-López, M., Macchietto, M. G., Verheggen, K., et al. (2018) · Genome Research · doi:10.1101/gr.222976.117 · Cited by 458
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
Genovese, G., Fromer, M., Stahl, E. A., Ruderfer, D. M., Chambert, K., Landén, M., Moran, J. L., Purcell, S. M., Sklar, P., Sullivan, P. F., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4402 · Cited by 444
RNA-binding proteins in tumor progression
Qin, H., Ni, H., Liu, Y., Yuan, Y., Xi, T., Li, X., & Zheng, L. (2020) · Journal of Hematology & Oncology · doi:10.1186/s13045-020-00927-w · Cited by 387
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
Self-citationPhase Separation as a Missing Mechanism for Interpretation of Disease Mutations
Tsang, B., Pritišanac, I., Scherer, S. W., Moses, A. M., & Forman-Kay, J. D. (2020) · Cell · doi:10.1016/j.cell.2020.11.050 · Cited by 281
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 271
Neurobiological bases of autism–epilepsy comorbidity: a focus on excitation/inhibition imbalance
Bozzi, Y., Provenzano, G., & Casarosa, S. (2018) · European Journal of Neuroscience · doi:10.1111/ejn.13595 · Cited by 250
Germline Chd8 haploinsufficiency alters brain development in mouse
Gompers, A. L., Su-Feher, L., Ellegood, J., Copping, N. A., Riyadh, M. A., Stradleigh, T. W., Pride, M. C., Schaffler, M. D., Wade, A. A., Catta-Preta, R., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4592 · Cited by 266
Kunkle, B. W., Schmidt, M. A., Klein, H., Naj, A. C., Hamilton‐Nelson, K. L., Larson, E. B., Evans, D. A., Jager, P. L. D., Crane, P. K., Buxbaum, J. D., et al. (2020) · JAMA Neurology · doi:10.1001/jamaneurol.2020.3536 · Cited by 258
Widespread RNA editing dysregulation in brains from autistic individuals
Tran, S. S., Jun, H.-I., Bahn, J. H., Azghadi, A., Ramaswami, G., Nostrand, E. L. V., Nguyen, T. B., Hsiao, Y.-H. E., Lee, C., Pratt, G. A., et al. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0287-x · Cited by 221
Self-citationRbfox Proteins Regulate Splicing as Part of a Large Multiprotein Complex LASR
Damianov, A., Yi, Y., Lin, C.-H., Lee, J.-A., Tran, D., Vashisht, A. A., Bahrami‐Samani, E., Xing, Y., Martin, K. C., Wohlschlegel, J. A., et al. (2016) · Cell · doi:10.1016/j.cell.2016.03.040 · Cited by 210
Self-citationCell-type specialization is encoded by specific chromatin topologies
Winick‐Ng, W., Kukalev, A., Harabula, I., Zea-Redondo, L., Szabó, D., Meijer, M., Serebreni, L., Zhang, Y., Bianco, S., Chiariello, A. M., et al. (2021) · Nature · doi:10.1038/s41586-021-04081-2 · Cited by 214
Paraoxonases-1, -2 and -3: What are their functions?
Furlong, C. E., Marsillach, J., Jarvik, G. P., & Costa, L. G. (2016) · Chemico-Biological Interactions · doi:10.1016/j.cbi.2016.05.036 · Cited by 211
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
MicroRNA-132 provides neuroprotection for tauopathies via multiple signaling pathways
El Fatimy, R., Li, S., Chen, Z., Mushannen, T., Gongala, S., Wei, Z., Balu, D. T., Rabinovsky, R., Cantlon, A., Elkhal, A., et al. (2018) · Acta Neuropathologica · doi:10.1007/s00401-018-1880-5 · Cited by 161
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 167
Furlanis, E., Traunmüller, L., Fucile, G., & Scheiffele, P. (2019) · Nature Neuroscience · doi:10.1038/s41593-019-0465-5 · Cited by 145
Developmental regulation of RNA processing by Rbfox proteins
Conboy, J. G. (2016) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1398 · Cited by 133
Alternative splicing: the pledge, the turn, and the prestige
Gallego-Paez, L. M., Bordone, M. C., Leote, A. C., Saraiva-Agostinho, N., Ascensão-Ferreira, M., & Barbosa‐Morais, N. L. (2017) · Human Genetics · doi:10.1007/s00439-017-1790-y · Cited by 143
RNA-binding proteins in neurological development and disease
Prashad, S., & Gopal, P. P. (2020) · RNA Biology · doi:10.1080/15476286.2020.1809186 · Cited by 124
Rbfox Splicing Factors Promote Neuronal Maturation and Axon Initial Segment Assembly
Jacko, M., Weyn‐Vanhentenryck, S. M., Smerdon, J. W., Yan, R., Feng, H., Williams, D. J., Pai, J. A., Xu, K., Wichterle, H., & Zhang, C. (2018) · Neuron · doi:10.1016/j.neuron.2018.01.020 · Cited by 131
Gonatopoulos-Pournatzis, T., Niibori, R., Salter, E. W., Weatheritt, R. J., Tsang, B., Farhangmehr, S., Liang, X., Braunschweig, U., Roth, J. F., Zhang, S., et al. (2020) · Molecular Cell · doi:10.1016/j.molcel.2020.01.006 · Cited by 120
Dysregulation of mRNA Localization and Translation in Genetic Disease
Wang, E. T., Taliaferro, J. M., Lee, J.-A., Sudhakaran, I. P., Rossoll, W., Groß, C., Moss, K. R., & Bassell, G. J. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.2352-16.2016 · Cited by 114
Self-citationAlkallas, R., Fish, L., Goodarzi, H., & Najafabadi, H. S. (2017) · Nature Communications · doi:10.1038/s41467-017-00867-z · Cited by 112
Splicing Activation by Rbfox Requires Self-Aggregation through Its Tyrosine-Rich Domain
Yi, Y., Wang, X., Vuong, C. K., Lin, C.-H., Damianov, A., & Black, D. L. (2017) · Cell · doi:10.1016/j.cell.2017.06.022 · Cited by 109
Self-citationRbfox1 Regulates Synaptic Transmission through the Inhibitory Neuron-Specific vSNARE Vamp1
Vuong, C. K., Wei, W., Lee, J.-A., Lin, C.-H., Damianov, A., de la Torre-Ubieta, L., Halabi, R., Otis, K. O., Martin, K. C., O’Dell, T. J., et al. (2018) · Neuron · doi:10.1016/j.neuron.2018.03.008 · Cited by 102
Self-citationA microRNA‐129‐5p/Rbfox crosstalk coordinates homeostatic downscaling of excitatory synapses
Rajman, M., Metge, F., Fiore, R., Khudayberdiev, S., Aksoy‐Aksel, A., Bicker, S., Ruedell Reschke, C., Raoof, R., Brennan, G. P., Delanty, N., et al. (2017) · The EMBO Journal · doi:10.15252/embj.201695748 · Cited by 99
RNA-binding proteins balance brain function in health and disease
Schieweck, R., Ninkovic, J., & Kiebler, M. A. (2020) · Physiological Reviews · doi:10.1152/physrev.00047.2019 · Cited by 111
Hamada, N., Ito, H., Nishijo, T., Iwamoto, I., Morishita, R., Tabata, H., Momiyama, T., & Nagata, K.-I. (2016) · Scientific Reports · doi:10.1038/srep30805 · Cited by 86
Jourdon, A., Wu, F., Mariani, J., Capauto, D., Norton, S., Tomasini, L., Amiri, A., Šuvakov, M., Schreiner, J. D., Jang, Y., et al. (2023) · Nature Neuroscience · doi:10.1038/s41593-023-01399-0 · Cited by 106
Rbfox1 Mediates Cell-type-Specific Splicing in Cortical Interneurons
Wamsley, B., Jaglin, X. H., Favuzzi, E., Quattrocolo, G., Nigro, M. J., Yusuf, N., Khodadadi‐Jamayran, A., Rudy, B., & Fishell, G. (2018) · Neuron · doi:10.1016/j.neuron.2018.09.026 · Cited by 101
An integrated analysis of genes and functional pathways for aggression in human and rodent models
Zhang-James, Y., Fernàndez-Castillo, N., Hess, J. L., Malki, K., Glatt, S. J., Cormand, B., & Faraone, S. V. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0068-7 · Cited by 98
Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies
Li, D., McIntosh, C. S., Mastaglia, F. L., Wilton, S. D., & Aung-Htut, M. T. (2021) · Translational Neurodegeneration · doi:10.1186/s40035-021-00240-7 · Cited by 98
Raghavan, N. S., Dumitrescu, L. C., Mormino, E. C., Mahoney, E. R., Lee, A., Gao, Y., Bilgel, M., Goldstein, D. B., Harrison, T. M., Engelman, C. D., et al. (2020) · JAMA Neurology · doi:10.1001/jamaneurol.2020.1760 · Cited by 91
Shah, S., Molinaro, G., Liu, B., Wang, R., Huber, K. M., & Richter, J. D. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.02.076 · Cited by 95
Repression of Pumilio Protein Expression by Rbfox1 Promotes Germ Cell Differentiation
Carreira-Rosario, A., Bhargava, V., Hillebrand, J., Kollipara, R. K., Ramaswami, M., & Buszczak, M. (2016) · Developmental Cell · doi:10.1016/j.devcel.2016.02.010 · Cited by 89
Satellite-like cells contribute to pax7-dependent skeletal muscle repair in adult zebrafish
Berberoglu, M. A., Gallagher, T. L., Morrow, Z. T., Talbot, J. C., Hromowyk, K. J., Tenente, I. M., Langenau, D. M., & Amacher, S. L. (2017) · Developmental Biology · doi:10.1016/j.ydbio.2017.03.004 · Cited by 85
Berto, S., Usui, N., Konopka, G., & Fogel, B. L. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw110 · Cited by 80
Sellier, C., Cerro-Herreros, E., Blatter, M., Freyermuth, F., Gaucherot, A., Ruffenach, F., Sarkar, P. S., Puymirat, J., Udd, B., Day, J., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04370-x · Cited by 84
Li, R., Ren, X., Ding, Q., Bi, Y. F., Xie, D., & Zhao, Z. (2020) · Genome Research · doi:10.1101/gr.251512.119 · Cited by 67
RNA Modifications and RNA Metabolism in Neurological Disease Pathogenesis
Chatterjee, B., Shen, C.-K. J., & Majumder, P. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222111870 · Cited by 68
Chromatin-mediated alternative splicing regulates cocaine-reward behavior
Xu, S.-J., Lombroso, S. I., Fischer, D. K., Carpenter, M. D., Marchione, D. M., Hamilton, P. J., Lim, C. J., Neve, R. L., Garcia, B. A., Wimmer, M. E., et al. (2021) · Neuron · doi:10.1016/j.neuron.2021.08.008 · Cited by 63
Coleman, J. R. I., Bryois, J., Gaspar, H. A., Jansen, P. R., Savage, J. E., Skene, N., Plomin, R., Muñoz-Manchado, A. B., Linnarsson, S., Crawford, G., et al. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0040-6 · Cited by 66
Postsynaptic autism spectrum disorder genes and synaptic dysfunction
Bonsi, P., Jaco, A. D., Fasano, L., & Gubellini, P. (2021) · Neurobiology of Disease · doi:10.1016/j.nbd.2021.105564 · Cited by 68
RBFOX1, encoding a splicing regulator, is a candidate gene for aggressive behavior
Fernàndez‐Castillo, N., Gan, G., van Donkelaar, M. M. J., Vaht, M., Weber, H., Retz, W., Meyer‐Lindenberg, A., Franke, B., Harro, J., Reif, A., et al. (2017) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2017.11.012 · Cited by 65
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
Ancient antagonism between CELF and RBFOX families tunes mRNA splicing outcomesPreprint
Gazzara, M. R., Mallory, M. J., Roytenberg, R., Lindberg, J., Jha, A., Lynch, K. W., & Barash, Y. (2017) · Genome Research · doi:10.1101/gr.220517.117 · Cited by 61
Nisar, S., & Haris, M. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02060-9 · Cited by 67
Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts
Verma, S. K., Deshmukh, V., Nutter, C. A., Jaworski, E. A., Jin, W., Wadhwa, L., Abata, J., Ricci, M., Lincoln, J., Martin, J. F., et al. (2016) · Scientific Reports · doi:10.1038/srep30896 · Cited by 56
Rbfox2 dissociation from stress granules suppresses cancer progression
Choi, S., Sa, M., Cho, N., Kim, K. K., & Park, S. (2019) · Experimental & Molecular Medicine · doi:10.1038/s12276-019-0246-y · Cited by 58
O’Leary, A., Fernàndez‐Castillo, N., Gan, G., Yang, Y., Yotova, A. Y., Kranz, T. M., Grünewald, L., Freudenberg, F., Antón-Galindo, E., Cabana‐Domínguez, J., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01722-4 · Cited by 51
Concentration-dependent splicing is enabled by Rbfox motifs of intermediate affinity
Begg, B. E., Jens, M., Wang, P. Y., Minor, C. M., & Burge, C. B. (2020) · Nature Structural & Molecular Biology · doi:10.1038/s41594-020-0475-8 · Cited by 60
Kucherenko, M. M., & Shcherbata, H. R. (2018) · Journal of Cell Science · doi:10.1242/jcs.202002 · Cited by 55
Tomassoni‐Ardori, F., Fulgenzi, G., Becker, J., Barrick, C. A., Palko, M. E., Kuhn, S. A., Kopardé, V. N., Cam, M. C., Yanpallewar, S. U., Oberdoerffer, S., et al. (2019) · eLife · doi:10.7554/elife.49673 · Cited by 55
Qiao, L., Xu, L., Yu, L., Wynn, J., Hernan, R., Zhou, X., Farkouh‐Karoleski, C., Krishnan, U., Khlevner, J., De, A., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.08.011 · Cited by 48
Fagg, W. S., Liu, N., Fair, J. H., Shiue, L., Katzman, S. J., Donohue, J. P., & Ares, M. (2017) · Genes & Development · doi:10.1101/gad.302059.117 · Cited by 48
A systematic variant annotation approach for ranking genes associated with autism spectrum disorders
Larsen, E., Menashe, I., Ziats, M. N., Pereanu, W., Packer, A. I., & Banerjee‐Basu, S. (2016) · Molecular Autism · doi:10.1186/s13229-016-0103-y · Cited by 50
Stress Granules Contain Rbfox2 with Cell Cycle-related mRNAs
Park, C., Choi, S., Kim, Y.-E., Lee, S., Park, S.-H., Adelstein, R. S., Kawamoto, S., & Kim, K. K. (2017) · Scientific Reports · doi:10.1038/s41598-017-11651-w · Cited by 49
Blake, D., & Lynch, K. W. (2021) · Immunological Reviews · doi:10.1111/imr.13018 · Cited by 49
Murphy, P. A., Butty, V. L., Boutz, P. L., Begum, S., Kimble, A. L., Sharp, P. A., Burge, C. B., & Hynes, R. O. (2018) · eLife · doi:10.7554/elife.29494 · Cited by 43
Regulatory genes and pathways disrupted in autism spectrum disorders
Ayhan, F., & Konopka, G. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2018.08.017 · Cited by 46
Chen, Y., Chang, Y., & Huang, Y. (2018) · Developmental Neurobiology · doi:10.1002/dneu.22653 · Cited by 42
Lo, L. H.-Y., & Lai, K. (2020) · Molecular Autism · doi:10.1186/s13229-020-00349-y · Cited by 47
mRNA Metabolism in Cardiac Development and Disease: Life After Transcription
Gao, C., & Wang, Y. (2019) · Physiological Reviews · doi:10.1152/physrev.00007.2019 · Cited by 44
Mechanisms of sex determination and X-chromosome dosage compensation
Meyer, B. J. (2022) · Genetics · doi:10.1093/genetics/iyab197 · Cited by 39
Cibi, D. M., Mia, M. M., Shekeran, S. G., Yun, L. S., Sandireddy, R., Gupta, P. S., Hota, M., Sun, L., Ghosh, S., & Singh, M. K. (2019) · eLife · doi:10.7554/elife.45418 · Cited by 46
Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome
Boitnott, A., García-Forn, M., Ung, D. C., Niblo, K., Mendonca, D., Park, Y., Flores, M., Maxwell, S., Ellegood, J., Qiu, L. R., et al. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.05.027 · Cited by 43
Wang, F., Tan, P., Zhang, P., Ren, Y., Zhou, J. R., Li, Y., Hou, S., Li, S., Zhang, L., Ma, Y., et al. (2022) · Science Advances · doi:10.1126/sciadv.abg5369 · Cited by 41
Kucherenko, M. M., & Shcherbata, H. R. (2018) · Nature Communications · doi:10.1038/s41467-017-02757-w · Cited by 39
Sakers, K., Liu, Y., Llaci, L., Lee, S. M., Vasek, M. J., Rieger, M. A., Brophy, S., Tycksen, E., Lewis, R. M., Maloney, S. E., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-21703-5 · Cited by 39
Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex
Salamon, I., Park, Y., Miškić, T., Kopić, J., Matteson, P. G., Page, N. F., Roque, A., McAuliffe, G., Favate, J. S., García-Forn, M., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-41730-8 · Cited by 40
Donlin-Asp, P., Rossoll, W., & Bassell, G. J. (2017) · FEBS Letters · doi:10.1002/1873-3468.12621 · Cited by 38
Pan-cancer analysis of mRNA stability for decoding tumour post-transcriptional programs
Perron, G., Jandaghi, P., Moslemi, E., Nishimura, T., Rajaee, M., Alkallas, R., Lu, T., Riazalhosseini, Y., & Najafabadi, H. S. (2022) · Communications Biology · doi:10.1038/s42003-022-03796-w · Cited by 35
Shen, F., Xu, X. M., Yu, Z., Li, H., Shen, H., Li, X., Shen, M., & Chen, G. (2020) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1177/0271678x20916860 · Cited by 33
Linking Autism Risk Genes to Disruption of Cortical Development
García-Forn, M., Boitnott, A., Akpinar, Z., & Rubeis, S. D. (2020) · Cells · doi:10.3390/cells9112500 · Cited by 35
Contextual fear conditioning induces differential alternative splicing
Poplawski, S. G., Peixoto, L., Porcari, G. S., Wimmer, M. E., McNally, A. G., Mizuno, K., Giese, K.-P., Chatterjee, S., Koberstein, J. N., Risso, D., et al. (2016) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2016.07.018 · Cited by 31
RNA Secondary Structure Modulates FMRP’s Bi-Functional Role in the MicroRNA Pathway
Kenny, P., & Ceman, S. (2016) · International Journal of Molecular Sciences · doi:10.3390/ijms17060985 · Cited by 31
Wen, Y., Hu, L., Li, J., Geng, Y., Yang, Y., Wang, J., Chen, X., Yu, L., Tang, H., Han, T., et al. (2022) · Journal of Nanobiotechnology · doi:10.1186/s12951-022-01313-z · Cited by 28
A gut reaction? The role of the microbiome in aggression
Uzan-Yulzari, A., Turjeman, S. C., Moadi, L., Getselter, D., Sharon, E., Rautava, S., Isolauri, E., Khatib, S., Elliott, E., & Koren, O. (2024) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2024.08.011 · Cited by 27
Matalkah, F. K., Jeong, B., Sheridan, M., Horstick, E. J., Ramamurthy, V., & Stoilov, P. (2022) · Communications Biology · doi:10.1038/s42003-022-03990-w · Cited by 28
MECP2-related pathways are dysregulated in a cortical organoid model of myotonic dystrophy
Morelli, K. H., Jin, W., Sathe, S., Madrigal, A. A., Jones, K. L., Schwartz, J. L., Bridges, T., Mueller, J. R., Shankar, A., Chaim, I. A., et al. (2022) · Science Translational Medicine · doi:10.1126/scitranslmed.abn2375 · Cited by 28
RNA and neuronal function: the importance of post-transcriptional regulation
Bhat, V. D., Jayaraj, J., & Babu, K. (2022) · Oxford Open Neuroscience · doi:10.1093/oons/kvac011 · Cited by 26
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
Chaves, T. F., Baretto, N., de Oliveira, L. F., Ocampos, M., Barbato, I. T., Anselmi, M., de Luca, G. R., Filho, J. H. B., Pinto, L. L. D. C., Bernardi, P., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-54347-z · Cited by 24
Evolution and transition of expression trajectory during human brain development
Li, M., Tang, H., Shao, Y., Wang, M., Xu, H., Wang, S., Irwin, D. M., Adeola, A. C., Zeng, T., Chen, L., et al. (2020) · BMC Evolutionary Biology · doi:10.1186/s12862-020-01633-4 · Cited by 24
Tiek, D. M., Khatib, S. A., Trepicchio, C. J., Heckler, M. M., Divekar, S. D., Sarkaria, J. N., Glasgow, E. F., & Riggins, R. B. (2019) · The FASEB Journal · doi:10.1096/fj.201901075r · Cited by 24
Neurogenesis: Regulation by Alternative Splicing and Related Posttranscriptional Processes
Lara‐Pezzi, E., Desco, M., Gatto, A., & Gómez‐Gaviro, M. V. (2016) · The Neuroscientist · doi:10.1177/1073858416678604 · Cited by 24
A matter of space and time: Emerging roles of disease-associated proteins in neural development
Panagiotakos, G., & Pașca, S. P. (2021) · Neuron · doi:10.1016/j.neuron.2021.10.035 · Cited by 25
Ischemic heart injury leads to HIF1-dependent differential splicing of CaMK2γ
Williams, A. L., Walton, C. B., Pinell, B., Khadka, V. S., Dunn, B. S., Lee, K., Anagaran, M. C. T., Avelar, A., & Shohet, R. V. (2021) · Scientific Reports · doi:10.1038/s41598-021-92426-2 · Cited by 22
Downregulation of splicing regulator RBFOX1 compromises visual depth perception
Gu, L., Bok, D., Yu, F., Caprioli, J., & Piri, N. (2018) · PLoS ONE · doi:10.1371/journal.pone.0200417 · Cited by 22
Feuer, K. L., Peng, X., Yovo, C., & Avramopoulos, D. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02186-w · Cited by 20
Altered mRNA Splicing in SMN-Depleted Motor Neuron-Like Cells
Custer, S. K., Gilson, T. D., Li, H., Todd, A. G., Astroski, J. W., Lin, H., Liu, Y., & Androphy, E. J. (2016) · PLoS ONE · doi:10.1371/journal.pone.0163954 · Cited by 21
Yang, Y., & Carstens, R. P. (2017) · Scientific Reports · doi:10.1038/s41598-017-03180-3 · Cited by 22
Posttranscriptional Gene Regulation of the GABA Receptor to Control Neuronal Inhibition
Schieweck, R., & Kiebler, M. A. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2019.00152 · Cited by 20
Kim, Y., Kim, J. O., Park, K.-S., Won, M., Kim, K. E., & Kim, K. K. (2016) · Molecules and Cells · doi:10.14348/molcells.2016.0150 · Cited by 20
Metadata
- Authors
- Lee, J.-A., Damianov, A., Lin, C.-H., Fontes, M., Parikshak, N. N., Anderson, E. S., Geschwind, D. H., Black, D. L., & Martin, K. C.
- Affiliations
- University of California, Los Angeles (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Martin, Kelsey C.
- ORCID
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 2016-01
- Volume
- 89
- Issue
- 1
- Pages
- 113-128
- ISSN
- 0896-6273 (ISSN-L)
- PMC
- PMC4858412
- OpenAlex
- W2190411440
- Cited by
- 232
- References
- 65
- Citations by year
- 2026: 10 · 2025: 17 · 2024: 26 · 2023: 22 · 2022: 24 · 2021: 18 · 2020: 31 · 2019: 20 · 2018: 27 · 2017: 19 · 2016: 18
- FWCI
- 9.26
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Neuron (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health (4f30ag033993-03)
- National Institute on Aging (F30 AG033993, 4F30AG033993)
- National Institute of Mental Health (F30MH099886, R21MH101684)
- National Institute of General Medical Sciences (R01GM084317)
- National Institute of Neurological Disorders and Stroke (R01NS045324)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD055784)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA regulation and disease
- Keywords
- RBFOX1, autism spectrum disorder, synaptic genes, alternative splicing, RNA-binding proteins, mRNA stability, translation (biology), 3' untranslated region, microRNA binding sites, cortical development, gene expression profiling
- MeSH terms
- RNA Splicing Factors, Animals, Autistic Disorder, Brain, Cytoplasm, Estriol, Humans, Mice, Inbred C57BL, Neurons, RNA, Messenger, RNA-Binding Proteins, Alternative Splicing, Gene Expression Profiling
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
