Defects in translational regulation contributing to human cognitive and behavioral disease

Systematic Evolution of Ligands by Exponential Enrichment: RNA Ligands to Bacteriophage T4 DNA Polymerase

Tuerk, C., & Gold, L. (1990) · Science · doi:10.1126/science.2200121 · Cited by 10,421 · see citing works

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481 · see citing works

Regulated Translation Initiation Controls Stress-Induced Gene Expression in Mammalian Cells

Harding, H. P., Novoa, I., Zhang, Y., Zeng, H., Wek, R. C., Schapira, M., & Ron, D. (2000) · Molecular Cell · doi:10.1016/s1097-2765(00)00108-8 · Cited by 3,281 · see citing works

FMRP 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 · see citing works

Neuroligins and neurexins link synaptic function to cognitive disease

Südhof, T. C. (2008) · Nature · doi:10.1038/nature07456 · Cited by 1,849 · see citing works

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 · see citing works

Reinitiation involving upstream ORFs regulates <i>ATF4</i> mRNA translation in mammalian cells

Vattem, K. M., & Wek, R. C. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0400541101 · Cited by 1,696 · see citing works

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1933 · Cited by 1,602 · see citing works

The mGluR theory of fragile X mental retardation

Bear, M. F., Huber, K. M., & Warren, S. T. (2004) · Trends in Neurosciences · doi:10.1016/j.tins.2004.04.009 · Cited by 1,580 · see citing works

Absence of expression of the FMR-1 gene in fragile X syndrome

Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476 · 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

Altered synaptic plasticity in a mouse model of fragile X mental retardation

Huber, K. M., Gallagher, S. M., Warren, S. T., & Bear, M. F. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.122205699 · Cited by 1,349 · see citing works

UBE3A/E6-AP mutations cause Angelman syndrome

Kishino, T., Lalande, M., & Wagstaff, J. E. (1997) · Nature Genetics · doi:10.1038/ng0197-70 · Cited by 1,304 · see citing works

Copy number variation in human health, disease, and evolution

Zhang, F., Gu, W., Hurles, M. E., & Lupski, J. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164217 · Cited by 1,207 · see citing works

mTOR signaling: At the crossroads of plasticity, memory and disease

Hoeffer, C. A., & Klann, E. (2010) · Trends in Neurosciences · doi:10.1016/j.tins.2009.11.003 · Cited by 1,128 · see citing works

Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome

Brown, V., Jin, P., Ceman, S., Darnell, J. C., O'Donnell, W. T., Tenenbaum, S. A., Jin, X., Feng, Y., Wilkinson, K. D., Keene, J. D., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00568-2 · Cited by 1,109 · see citing works

Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function

Bassell, G. J., & Warren, S. T. (2008) · Neuron · doi:10.1016/j.neuron.2008.10.004 · Cited by 1,051 · see citing works

Role for rapid dendritic protein synthesis in hippocampal mGluR-dependent long-term depression.

Huber, K., Kayser, M., & Bear, M. (2000) · Science · doi:10.1126/science.288.5469.1254 · Cited by 1,015 · see citing works

Shank, a Novel Family of Postsynaptic Density Proteins that Binds to the NMDA Receptor/PSD-95/GKAP Complex and Cortactin

Naisbitt, S., Kim, E., Tu, J. C., Xiao, B., Sala, C., Valtschanoff, J., Weinberg, R. J., Worley, P. F., & Sheng, M. (1999) · Neuron · doi:10.1016/s0896-6273(00)80809-0 · Cited by 1,009 · see citing works

Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function

Darnell, J. C., Jensen, K. B., Jin, P., Brown, V., Warren, S. T., & Darnell, R. B. (2001) · Cell · doi:10.1016/s0092-8674(01)00566-9 · Cited by 952 · see citing works

Translational control of long-lasting synaptic plasticity and memory

Costa-Mattioli, M., Sossin, W. S., Klann, E., & Sonenberg, N. (2009) · Neuron · doi:10.1016/j.neuron.2008.10.055 · Cited by 944 · see citing works

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

Matsuura, T., Sutcliffe, J. S., Fang, P., Galjaard, R. H., Jiang, Y., Benton, C. S., Rommens, J. M., & Beaudet, A. L. (1997) · Nature Genetics · doi:10.1038/ng0197-74 · Cited by 858 · see citing works

Dosage sensitivity and the evolution of gene families in yeast

Papp, B., Pál, C., & Hurst, L. D. (2003) · Nature · doi:10.1038/nature01771 · Cited by 807 · 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

The Fragile X Syndrome Protein FMRP Associates with BC1 RNA and Regulates the Translation of Specific mRNAs at Synapses

Zalfa, F., Giorgi, M., Primerano, B., Moro, A., Di Penta, A., Reis, S., Oostra, B., & Bagni, C. (2003) · Cell · doi:10.1016/s0092-8674(03)00079-5 · Cited by 676 · see citing works

Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation

Weiler, I. J., Irwin, S. A., Klintsova, A. Y., Spencer, C. M., Brazelton, A. D., Miyashiro, K., Comery, T. A., Patel, B., Eberwine, J., & Greenough, W. T. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.10.5395 · Cited by 644 · cited 1× · see citing works

Drosophila Fragile X-Related Gene Regulates the MAP1B Homolog Futsch to Control Synaptic Structure and Function

Zhang, Y., Bailey, A. M., Matthies, H. J. G., Renden, R., Smith, M. A., Speese, S. D., Rubin, G. M., & Broadie, K. S. (2001) · Cell · doi:10.1016/s0092-8674(01)00589-x · Cited by 641 · see citing works

The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein.

Siomi, H., Siomi, M. C., Nussbaum, R. L., & Dreyfuss, G. (1993) · Cell · doi:10.1016/0092-8674(93)90420-u · Cited by 641 · see citing works

A point mutation in the FMR-1 gene associated with fragile X mental retardation

Boulle, K. D., Verkerk, A. J. M. H., Reyniers, E., Vits, L., Hendrickx, J., Roy, B. V., Bos, F. V. D., de Graaff, E., Oostra, B. A., & Willems, P. J. (1993) · Nature Genetics · doi:10.1038/ng0193-31 · Cited by 624 · see citing works

The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP

Napoli, I., Mercaldo, V., Boyl, P. P., Eleuteri, B., Zalfa, F., De Rubeis, S., Di Marino, D., Mohr, E., Massimi, M., Falconi, M., et al. (2008) · Cell · doi:10.1016/j.cell.2008.07.031 · Cited by 609 · see citing works

The Autistic Neuron: Troubled Translation?

Kelleher, R. J., & Bear, M. F. (2008) · Cell · doi:10.1016/j.cell.2008.10.017 · Cited by 598 · see citing works

Translational Regulatory Mechanisms in Persistent Forms of Synaptic Plasticity

Kelleher, R. J., Govindarajan, A., & Tonegawa, S. (2004) · Neuron · doi:10.1016/j.neuron.2004.09.013 · Cited by 592 · see citing works

Evidence that fragile X mental retardation protein is a negative regulator of translation

Laggerbauer, B. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.4.329 · Cited by 571 · see citing works

Fragile X mental retardation protein: Nucleocytoplasmic shuttling and association with somatodendritic ribosomes.

Feng, Y., Gutekunst, C.-A., Eberhart, D. E., Yi, H., Warren, S. T., & Hersch, S. M. (1997) · The Journal of Neuroscience · doi:10.1523/jneurosci.17-05-01539.1997 · Cited by 532 · see citing works

Imbalance of Neocortical Excitation and Inhibition and Altered UP States Reflect Network Hyperexcitability in the Mouse Model of Fragile X Syndrome

Gibson, J. R., Bartley, A. F., Hays, S. A., & Huber, K. M. (2008) · Journal of Neurophysiology · doi:10.1152/jn.90752.2008 · Cited by 529 · 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

Elongation Factor 2 and Fragile X Mental Retardation Protein Control the Dynamic Translation of Arc/Arg3.1 Essential for mGluR-LTD

Park, S., Park, J. M., Kim, S., Kim, J.-A., Shepherd, J. D., Smith-Hicks, C. L., Chowdhury, S., Kaufmann, W., Kuhl, D., Ryazanov, A. G., et al. (2008) · Neuron · doi:10.1016/j.neuron.2008.05.023 · Cited by 516 · see citing works

FMRP Associates with Polyribosomes as an mRNP, and the I304N Mutation of Severe Fragile X Syndrome Abolishes This Association

Feng, Y., Absher, D., Eberhart, D. E., Brown, V., Malter, H. E., & Warren, S. T. (1997) · Molecular Cell · doi:10.1016/s1097-2765(00)80012-x · Cited by 511 · see citing works

The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif

Schaeffer, C., Bardoni, B., Mandel, J., Ehresmann, B., Ehresmann, C., & Moine, H. (2001) · The EMBO Journal · doi:10.1093/emboj/20.17.4803 · Cited by 471 · see citing works

Dynamic Translational and Proteasomal Regulation of Fragile X Mental Retardation Protein Controls mGluR-Dependent Long-Term Depression

Hou, L., Antion, M. D., Hu, D., Spencer, C. M., Paylor, R., & Klann, E. (2006) · Neuron · doi:10.1016/j.neuron.2006.07.005 · Cited by 469 · see citing works

The fragile X mental retardation protein inhibits translation via interacting with mRNA

Li, Z. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.11.2276 · Cited by 448 · see citing works

Assembling the Presynaptic Active Zone

Zhai, R. G., Vardinon-Friedman, H., Cases-Langhoff, C., Becker, B., Gundelfinger, E. D., Ziv, N. E., & Garner, C. C. (2001) · Neuron · doi:10.1016/s0896-6273(01)00185-4 · Cited by 424 · see citing works

Biochemical mechanisms for translational regulation in synaptic plasticity

Klann, E., & Dever, T. E. (2004) · Nature reviews. Neuroscience · doi:10.1038/nrn1557 · Cited by 422 · see citing works

Dysregulated Metabotropic Glutamate Receptor-Dependent Translation of AMPA Receptor and Postsynaptic Density-95 mRNAs at Synapses in a Mouse Model of Fragile X Syndrome

Muddashetty, R. S., Kelić, S., Gross, C., Xu, M., & Bassell, G. J. (2007) · The Journal of Neuroscience · doi:10.1523/jneurosci.0937-07.2007 · Cited by 421 · see citing works

NMDA receptor-mediated control of protein synthesis at developing synapses

Scheetz, A., Nairn, A., & Constantine-Paton, M. (2000) · Nature Neuroscience · doi:10.1038/72915 · Cited by 382 · see citing works

Compartmentalized Synthesis and Degradation of Proteins in Neurons

Steward, O., & Schuman, E. M. (2003) · Neuron · doi:10.1016/s0896-6273(03)00635-4 · Cited by 377 · see citing works

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of <i>SHANK3/PROSAP2</i> in the major neurological symptoms

Wilson, H. L., Wong, A. C. C., Shaw, S. R., Tse, W.-Y., Stapleton, G. A., Phelan, M. C., Hu, S., Marshall, J., & McDermid, H. E. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.8.575 · Cited by 377 · see citing works

Evidence for reassociation of RNA-binding proteins after cell lysis: Implications for the interpretation of immunoprecipitation analyses

Mili, S., & STEITZ, J. A. (2004) · RNA · doi:10.1261/rna.7151404 · Cited by 369 · see citing works

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

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

Dosage-Dependent Gene Regulation in Multicellular Eukaryotes: Implications for Dosage Compensation, Aneuploid Syndromes, and Quantitative Traits

Birchler, J. A., Bhadra, U., Bhadra, M. P., & Auger, D. L. (2001) · Developmental Biology · doi:10.1006/dbio.2001.0262 · Cited by 355 · see citing works

Unitary Assembly of Presynaptic Active Zones from Piccolo-Bassoon Transport Vesicles

Shapira, M., Zhai, R. G., Dresbach, T., Bresler, T., Torres, V. I., Gundelfinger, E. D., Ziv, N. E., & Garner, C. C. (2003) · Neuron · doi:10.1016/s0896-6273(03)00207-1 · Cited by 354 · see citing works

ProSAP/Shank proteins – a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease

Boeckers, T. M., Bockmann, J., Kreutz, M. R., & Gundelfinger, E. D. (2002) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.2002.00931.x · Cited by 349 · see citing works

Making synaptic plasticity and memory last: mechanisms of translational regulationPreprint

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

Phosphorylation influences the translation state of FMRP-associated polyribosomes

Ceman, S., O'Donnell, W. T., Reed, M., Patton, S., Pohl, J., & Warren, S. T. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg350 · Cited by 327 · see citing works

The fragile X protein controls microtubule-associated protein 1B translation and microtubule stability in brain neuron development

Lu, R., Wang, H., Liang, Z., Ku, L., O'Donnell, W. T., Li, W., Warren, S. T., & Feng, Y. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0404995101 · Cited by 322 · see citing works

FMRP Mediates mGluR5-Dependent Translation of Amyloid Precursor Protein

Westmark, C. J., & Malter, J. S. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050052 · Cited by 292 · see citing works

Metabotropic Receptor-Dependent Long-Term Depression Persists in the Absence of Protein Synthesis in the Mouse Model of Fragile X Syndrome

Nosyreva, E. D., & Huber, K. M. (2006) · Journal of Neurophysiology · doi:10.1152/jn.01316.2005 · Cited by 292 · see citing works

Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes

Darnell, J. C., Fraser, C. E., Mostovetsky, O., Stefani, G., Jones, T. A., Eddy, S. R., & Darnell, R. B. (2005) · Genes &amp; Development · doi:10.1101/gad.1276805 · Cited by 287 · see citing works

Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome

Dölen, G., & Bear, M. F. (2008) · The Journal of Physiology · doi:10.1113/jphysiol.2008.150722 · Cited by 278 · see citing works

Postsynaptic Decoding of Neural Activity: eEF2 as a Biochemical Sensor Coupling Miniature Synaptic Transmission to Local Protein Synthesis

Sutton, M. A., Taylor, A. M., Ito, H. T., Pham, A., & Schuman, E. M. (2007) · Neuron · doi:10.1016/j.neuron.2007.07.030 · Cited by 274 · see citing works

Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells

Stefani, G., Fraser, C. E., Darnell, J. C., & Darnell, R. B. (2004) · The Journal of Neuroscience · doi:10.1523/jneurosci.2306-04.2004 · Cited by 274 · see citing works

Two ZBP1 KH domains facilitate β-actin mRNA localization, granule formation, and cytoskeletal attachment

Farina, K. L., Hüttelmaier, S., Musunuru, K., Darnell, R. B., & Singer, R. H. (2002) · The Journal of Cell Biology · doi:10.1083/jcb.200206003 · Cited by 271 · see citing works

Ribonomics: identifying mRNA subsets in mRNP complexes using antibodies to RNA-binding proteins and genomic arrays

Tenenbaum, S. A. (2002) · Methods · doi:10.1016/s1046-2023(02)00022-1 · Cited by 269 · see citing works

Gene Duplication: A Drive for Phenotypic Diversity and Cause of Human Disease

Conrad, B., & Antonarakis, S. E. (2007) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.8.021307.110233 · Cited by 267 · see citing works

Postadolescent Changes in Regional Cerebral Protein Synthesis: An<i>In Vivo</i>Study in the<i>Fmr1</i>Null Mouse

Qin, M., Kang, J., Burlin, T. V., Jiang, C., & Smith, C. B. (2005) · The Journal of Neuroscience · doi:10.1523/jneurosci.0093-05.2005 · Cited by 263 · 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

Local functions for FMRP in axon growth cone motility and activity-dependent regulation of filopodia and spine synapses

Antar, L. N., Li, C., Zhang, H., Carroll, R. C., & Bassell, G. J. (2006) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2006.02.001 · Cited by 259 · see citing works

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Froyen, G., Corbett, M. A., Vandewalle, J., Järvelä, I. E., Lawrence, O., Meldrum, C. J., Bauters, M., Govaerts, K., Vandeleur, L., Esch, H. V., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.11.002 · Cited by 225 · see citing works

The State of Synapses in Fragile X Syndrome

Pfeiffer, B. E., & Huber, K. M. (2009) · The Neuroscientist · doi:10.1177/1073858409333075 · Cited by 214 · see citing works

The FXG: a presynaptic fragile X granule expressed in a subset of developing brain circuits

Christie, S. B., Akins, M. R., Schwob, J. E., & Fallon, J. R. (2009) · The Journal of Neuroscience · doi:10.1523/jneurosci.3937-08.2009 · Cited by 208 · see citing works

Circuit and Plasticity Defects in the Developing Somatosensory Cortex of<i>Fmr1</i>Knock-Out Mice

Bureau, I., Shepherd, G. M. G., & Svoboda, K. (2008) · The Journal of Neuroscience · doi:10.1523/jneurosci.1076-08.2008 · Cited by 201 · see citing works

Excess protein synthesis in Drosophila fragile X mutants impairs long-term memory

Bolduc, F. V., Bell, K., Cox, H., Broadie, K. S., & Tully, T. (2008) · Nature Neuroscience · doi:10.1038/nn.2175 · Cited by 187 · see citing works

Protein homeostasis and synaptic plasticity

Cajigas, I. J., Will, T. J., & Schuman, E. M. (2010) · The EMBO Journal · doi:10.1038/emboj.2010.173 · Cited by 185 · see citing works

Biochemical evidence for the association of fragile X mental retardation protein with brain polyribosomal ribonucleoparticles

Khandjian, E. W., Huot, M.-E., Tremblay, S., Davidovic, L., Mazroui, R., & Bardoni, B. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0405398101 · Cited by 178 · see citing works

In vitro genetics

Szostak, J. W. (1992) · Trends in Biochemical Sciences · doi:10.1016/0968-0004(92)90242-2 · Cited by 163 · see citing works

Defective Neuronal Development in the Mushroom Bodies of Drosophila Fragile X Mental Retardation 1 Mutants

Michel, C. I., Kraft, R., & Restifo, L. L. (2004) · Journal of Neuroscience · doi:10.1523/jneurosci.1102-04.2004 · Cited by 145 · see citing works

Drosophilafragile X mental retardation protein developmentally regulates activity-dependent axon pruning

Tessier, C. R., & Broadie, K. S. (2008) · Development · doi:10.1242/dev.015867 · Cited by 144 · see citing works

A mouse model of the human Fragile X syndrome I304N mutation

Zang, J. B., Nosyreva, E. D., Spencer, C. M., Volk, L. J., Musunuru, K., Zhong, R., Stone, E. F., Yuva-Paylor, L. A., Huber, K. M., Paylor, R., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000758 · Cited by 138 · see citing works

Copy-number variants in neurodevelopmental disorders: promises and challenges

Merikangas, A. K., Corvin, A. P., & Gallagher, L. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.10.006 · Cited by 133 · see citing works

Altered Hippocampal Synaptic Plasticity in the <i>Fmr1</i> Gene Family Knockout Mouse Models

Zhang, J., Hou, L., Klann, E., & Nelson, D. L. (2009) · Journal of Neurophysiology · doi:10.1152/jn.90558.2008 · Cited by 126 · 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

Frequency of new copy number variation in humans

van Ommen, G. B. (2005) · Nature Genetics · doi:10.1038/ng0405-333 · Cited by 116 · see citing works

PresynapticFmr1Genotype Influences the Degree of Synaptic Connectivity in a Mosaic Mouse Model of Fragile X Syndrome

Hanson, J. E., & Madison, D. V. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.4717-06.2007 · Cited by 103 · see citing works

Visual Experience Regulates Transient Expression and Dendritic Localization of Fragile X Mental Retardation Protein

Gabel, L. A., Won, S., Kawai, H. D., McKinney, M., Tartakoff, A. M., & Fallon, J. R. (2004) · Journal of Neuroscience · doi:10.1523/jneurosci.2185-04.2004 · Cited by 103 · see citing works

The Fragile X Mental Retardation Protein FMRP Binds Elongation Factor 1A mRNA and Negatively Regulates Its Translation in Vivo

Sung, Y. J., Dolzhanskaya, N., Nolin, S. L., Brown, T., Currie, J. R., & Denman, R. B. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m211117200 · Cited by 89 · see citing works

Evidence for Altered Fragile-X Mental Retardation Protein Expression in Response to Behavioral Stimulation

Irwin, S. A., Swain, R. A., Christmon, C. A., Chakravarti, A. B., Weiler, I. J., & Greenough, W. T. (2000) · Neurobiology of Learning and Memory · doi:10.1006/nlme.1999.3914 · Cited by 84 · see citing works

Three-way RNA junctions with remote tertiary contacts: A recurrent and highly versatile fold

de la Peña, M., Dufour, D., & Gallego, J. (2009) · RNA · doi:10.1261/rna.1889509 · Cited by 76 · see citing works

N -methyl- d -aspartate receptor activation and visual activity induce elongation factor-2 phosphorylation in amphibian tecta: A role for N -methyl- d -aspartate receptors in controlling protein synthesis

Scheetz, A. J., Nairn, A. C., & Constantine‐Paton, M. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.26.14770 · Cited by 70 · see citing works

Fragile X Mental Retardation Protein is involved in protein synthesis-dependent collapse of growth cones induced by Semaphorin-3A

Li, C. (2009) · Frontiers in Neural Circuits · doi:10.3389/neuro.04.011.2009 · Cited by 67 · see citing works

Whisker stimulation-dependent translation of FMRP in the barrel cortex requires activation of type I metabotropic glutamate receptors

Todd, P. K., Malter, J. S., & Mack, K. J. (2003) · Molecular Brain Research · doi:10.1016/s0169-328x(02)00657-5 · Cited by 55 · see citing works

Fragile X Mental Retardation Protein in Learning-Related Synaptic Plasticity

Mercaldo, V., Descalzi, G., & Zhuo, M. (2009) · Molecules and Cells · doi:10.1007/s10059-009-0193-x · Cited by 44 · see citing works

The Fragile X Mental Retardation Protein in Circadian Rhythmicity and Memory Consolidation

Gatto, C. L., & Broadie, K. S. (2009) · Molecular Neurobiology · doi:10.1007/s12035-009-8057-0 · Cited by 38 · see citing works

A presynaptic role for FMRP during protein synthesis–dependent long-term plasticity in AplysiaPreprint

Till, S. M., Li, H.-L., Miniaci, M. C., Kandel, E. R., & Choi, Y. (2010) · Learning & Memory · doi:10.1101/lm.1958811 · Cited by 29 · see citing works

The contribution of de novo coding mutations to autism spectrum disorder

Iossifov, I., O’Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., et al. (2014) · Nature · doi:10.1038/nature13908 · Cited by 2,585 · see citing works

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L., Thiruvahindrapuram, B., Xu, X., Ziman, R., Wang, Z., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.03.018 · Cited by 969 · see citing works

Aberrant methylation of tRNAs links cellular stress to neuro‐developmental disorders

Blanco, S., Dietmann, S., Flores, J. V., Hussain, S., Kutter, C., Humphreys, P. D., Lukk, M., Lombard, P., Treps, L., Popis, M. C., et al. (2014) · The EMBO Journal · doi:10.15252/embj.201489282 · Cited by 624 · see citing works

Emerging roles of tRNA in adaptive translation, signalling dynamics and disease

Kirchner, S., & Ignatova, Z. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3861 · Cited by 524 · see citing works

The Pathophysiology of Fragile X (and What It Teaches Us about Synapses)

Bhakar, A. L., Dölen, G., & Bear, M. F. (2012) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-060909-153138 · Cited by 370 · see citing works

Integrative analysis of RNA, translation, and protein levels reveals distinct regulatory variation across humans

Cenik, C., Cenik, E. S., Byeon, G. W., Grubert, F., Candille, S. I., Spacek, D., Alsallakh, B., Tilgner, H., Araya, C. L., Tang, H., et al. (2015) · Genome Research · doi:10.1101/gr.193342.115 · Cited by 208 · see citing works

Brain Transcriptional and Epigenetic Associations with Autism

Ginsberg, M. R., Rubin, R. A., Falcone, T., Ting, A. H., & Natowicz, M. R. (2012) · PLoS ONE · doi:10.1371/journal.pone.0044736 · Cited by 164 · see citing works

iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth

Doers, M. E., Musser, M. T., Nichol, R., Berndt, E. R., Baker, M., Gomez, T. M., Zhang, S.-C., Abbeduto, L., & Bhattacharyya, A. (2014) · Stem Cells and Development · doi:10.1089/scd.2014.0030 · Cited by 165 · see citing works

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

Kolevzon, A. L., Angarita, B., Bush, L., Wang, A. T., Frank, Y., Yang, A., Rapaport, R., Saland, J. M., Srivastava, S., Farrell, C., et al. (2014) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-6-39 · Cited by 159 · see citing works

A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome

Kolevzon, A. L., Bush, L., Wang, A. A., Halpern, D. B., Frank, Y., Grodberg, D., Rapaport, R., Tavassoli, T., Chaplin, W. F., Soorya, L. V., et al. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-54 · Cited by 141 · see citing works

Phelan–McDermid Syndrome and SHANK3: Implications for Treatment

Costales, J. L., & Kolevzon, A. L. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0352-z · Cited by 122 · see citing works

ATP Synthase c-Subunit Leak Causes Aberrant Cellular Metabolism in Fragile X Syndrome

Licznerski, P., Park, H., Rolyan, H., Chen, R., Mnatsakanyan, N., Miranda, P., Graham, M. M., Wu, J., Cruz-Reyes, N., Mehta, N. A., et al. (2020) · Cell · doi:10.1016/j.cell.2020.07.008 · Cited by 114 · see citing works

Fragile Mental Retardation Protein Interacts with the RNA-Binding Protein Caprin1 in Neuronal RiboNucleoProtein Complexes

Fatimy, R. E., Tremblay, S., Dury, A. Y., Solomon, S., Koninck, P. D., Schrader, J. W., & Khandjian, É. W. (2012) · PLoS ONE · doi:10.1371/journal.pone.0039338 · Cited by 73 · see citing works

mRNA Localization: An Orchestration of Assembly, Traffic and Synthesis

Xing, L., & Bassell, G. J. (2012) · Traffic · doi:10.1111/tra.12004 · Cited by 61 · see citing works

Neuronal BC RNAs cooperate with eIF4B to mediate activity-dependent translational control

Eom, T., Muslimov, I. A., Tsokas, P., Berardi, V., Zhong, J. W., Sacktor, T. C., & Tiedge, H. (2014) · The Journal of Cell Biology · doi:10.1083/jcb.201401005 · Cited by 61 · see citing works

Nuclear Fragile X Mental Retardation Protein Is localized to Cajal Bodies

Dury, A. Y., Fatimy, R. E., Tremblay, S., Rose, T. M., Côté, J., Koninck, P. D., & Khandjian, É. W. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003890 · Cited by 45 · see citing works

Cell-specific Profiling of Nascent Proteomes Using Orthogonal Enzyme-mediated Puromycin Incorporation

Barrett, R. M., Liu, H.-W., Jin, H., Goodman, R. H., & Cohen, M. S. (2016) · ACS Chemical Biology · doi:10.1021/acschembio.5b01076 · Cited by 46 · see citing works

Regional brain volumes changes in adult male FMR1-KO mouse on the FVB strain

Lai, J., Lerch, J. P., Doering, L. C., Foster, J. A., & Ellegood, J. (2016) · Neuroscience · doi:10.1016/j.neuroscience.2016.01.021 · Cited by 45 · see citing works

Accumulation of Polyribosomes in Dendritic Spine Heads, But Not Bases and Necks, during Memory Consolidation Depends on Cap-Dependent Translation Initiation

Ostroff, L. E., Botsford, B. W., Gindina, S., Cowansage, K. K., LeDoux, J. E., Klann, E., & Hoeffer, C. A. (2017) · Journal of Neuroscience · doi:10.1523/jneurosci.3301-16.2017 · Cited by 36 · see citing works

c entrocortin RNA localization to centrosomes is regulated by FMRP and facilitates error-free mitosis

Ryder, P. V., Fang, J., & Lerit, D. A. (2020) · The Journal of Cell Biology · doi:10.1083/jcb.202004101 · Cited by 33 · see citing works

Crystal structure of a dimerization domain of human Caprin-1: insights into the assembly of an evolutionarily conserved ribonucleoprotein complex consisting of Caprin-1, FMRP and G3BP1

Wu, Y., Zhu, J., Huang, X., & Du, Z. (2016) · Acta Crystallographica Section D Structural Biology · doi:10.1107/s2059798316004903 · Cited by 31 · see citing works

Developmental lead (Pb)-induced deficits in hippocampal protein translation at the synapses are ameliorated by ascorbate supplementation

Ahmad, F., Salahuddin, M., Alsamman, K., AlMulla, A. A., & Salama, K. (2018) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s174083 · Cited by 20 · see citing works

Interactions of noncanonical motifs with hnRNP A2 promote activity-dependent RNA transport in neurons

Muslimov, I. A., Tuzhilin, A., Tang, T. H., Wong, R. K. S., Bianchi, R., & Tiedge, H. (2014) · The Journal of Cell Biology · doi:10.1083/jcb.201310045 · Cited by 21 · see citing works

Increasing our understanding of human cognition through the study of fragile X syndrome

Cook, D., Nuro, E., & Murai, K. K. (2013) · Developmental Neurobiology · doi:10.1002/dneu.22096 · Cited by 20 · see citing works

Etiology of Autism the Complexity of Risk Factors in Autism Spectrum Disorder

Fett‐Conte, A. C., Bossolani-Martins, A. L., & Rosan, D. B. A. (2015) · InTech eBooks · doi:10.5772/59109 · Cited by 21 · see citing works

Upregulation of eIF4E, but not other translation initiation factors, in dendritic spines during memory formation

Gindina, S., Botsford, B., Cowansage, K., LeDoux, J., Klann, E., Hoeffer, C. A., & Ostroff, L. E. (2021) · The Journal of comparative neurology · doi:10.1002/cne.25158 · Cited by 14 · see citing works

Gene expression changes in the MAPK pathway in both Fragile X and Down syndrome human neural progenitor cells.

McMillan, E., Kamps, A. L., Lake, S. S., Svendsen, C. N., & Bhattacharyya, A. (2012) · PubMed Central · Cited by 15 · see citing works

Regulatory BC1 RNA in cognitive controlPreprint

Iacoangeli, A., Dosunmu, A., Eom, T., Stefanov, D. G., & Tiedge, H. (2017) · Learning & Memory · doi:10.1101/lm.045427.117 · Cited by 13 · see citing works

Effect of Fabomotizole on Brain Gene Expression in MR Rats in the Open Field Test

Vakhitova, Y. V., Kuzmina, U. S., Воронин, М. В., Зайнуллина, Л. Ф., & Середенин, С. Б. (2019) · Doklady Biochemistry and Biophysics · doi:10.1134/s1607672919050090 · Cited by 9 · see citing works

Changes in neuronal immunofluorescence in the C- versus N-terminal domains of hnRNP H following D1 dopamine receptor activation

Ruan, Q. T., Yazdani, N., Beierle, J. A., Hixson, K. M., Hokenson, K. E., Apicco, D. J., Luttik, K. P., Zheng, K., Maziuk, B. F., Ash, P. E. A., et al. (2018) · Neuroscience Letters · doi:10.1016/j.neulet.2018.07.015 · Cited by 9 · see citing works

BC RNA Mislocalization in the Fragile X Premutation

Muslimov, I. A., Eom, T., Iacoangeli, A., Chuang, S.-C., Hukema, R. K., Willemsen, R., Stefanov, D. G., Wong, R. K. S., & Tiedge, H. (2018) · eNeuro · doi:10.1523/eneuro.0091-18.2018 · Cited by 8 · see citing works

Correction: Fragile Mental Retardation Protein Interacts with the RNA-Binding Protein Caprin1 in Neuronal RiboNucleoProtein Complexes

Fatimy, R. E., Tremblay, S., Dury, A. Y., Solomon, S., Koninck, P. D., Schrader, J. W., & Khandjian, É. W. (2012) · PLoS ONE · doi:10.1371/annotation/05374d07-34cf-483f-80f4-ec87374cbeb6 · Cited by 7 · see citing works

Autoimmune RNA dysregulation and seizures: therapeutic prospects in neuropsychiatric lupus

Muslimov, I. A., Berardi, V., Stephenson, S. I., Ginzler, E. M., Hanly, J. G., & Tiedge, H. (2022) · Life Science Alliance · doi:10.26508/lsa.202201496 · Cited by 4 · see citing works

Dendritic Targeting and Regulatory RNA Control of Local Neuronal Translation

Eom, T., Muslimov, I. A., Iacoangeli, A., & Tiedge, H. (2018) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780190686307.013.8 · Cited by 4 · see citing works

Computer analysis of the data on gene expression in brain cells obtained by microarray tests and high-throughput sequencing

Medvedeva, I. V., Vishnevsky, O. V., Safronova, N. S., Kozhevnikova, O. S., Александрович, Г. М., Afonnikov, D. A., Kochetov, A. V., & Orlov, Y. L. (2014) · Russian Journal of Genetics Applied Research · doi:10.1134/s2079059714040066 · Cited by 3 · see citing works

tRN-A-RS Acts As Biomarker for Cancer and Other Diseases

Samadder, A., & Mitra, S. (2016) · Journal of Molecular Biomarkers & Diagnosis · doi:10.4172/2155-9929.s2-019 · Cited by 2 · see citing works

The striatal heterogeneous nuclear ribonucleoprotein H mRNA targetome associated with methamphetamine administration and behaviorPreprint

Ruan, Q. T., Lynch, W. B., Cole, R. H., Rieger, M. A., Baskin, B. M., Miracle, S. A., Beierle, J. A., Yao, E. J., Cox, J. W., Kandola, A. K., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.07.06.451358 · Cited by 2 · see citing works

First-Tier Array CGH in Clinically Variable Entity Diagnosis: 22q13.3 Deletion Syndrome

Budișteanu, M., Ţuţulan-Cuniţă, A. C., Focșa, I. O., Papuc, S. M., & Arghir, A. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.89399 · Cited by 1 · see citing works

The fragile X proteins’ enigma: to be or not to be nucleolar

Khandjian, É. W., Moss, T., Rose, T. M., Robert, C., & Davidovic, L. (2024) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2024.1448209 · Cited by 1 · see citing works

Insights into the human Fragile X syndrome gene family using Drosophila melanogaster

Coffee, R. L. (2011) · Cited by 1 · see citing works

Faculty Opinions recommendation of Nuclear Fragile X Mental Retardation Protein is localized to Cajal bodies.

Davidovic, L. (2013) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.718169565.793487178

Investigation of Novel Gene Functions in Yeast Using Functional Genomics

Jagadeesan, S. K. (2023) · doi:10.22215/etd/2023-15665

Aberrant 5-Methylcytosine tRNA Modification Disrupts Proteostasis and Exacerbates Age-Related OsteoporosisPreprint

Peng, Z., Peng, N., Yuan, M., Yan, F., Jiang, T.-J., Ye, M., & Xiao, Y. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.11.04.686482

Translational dysregulation as a mechanistic driver of cognitive, behavioral, and affective phenotypes in FXS and TSC

Lawal, S. A., Mujtaba, M., & Shrestha, P. (2026) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2026.106993

Cytoplasmic RNA-Binding Proteins and the Control of Complex Brain FunctionPreprint

Darnell, J. C., & Richter, J. D. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a012344 · Cited by 124 · see citing works

Binding proteins for mRNA localization and local translation, and their dysfunction in genetic neurological disease

Bassell, G. J., & Kelič, S. (2004) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2004.08.010 · Cited by 89 · see citing works

Implications of mRNA translation dysregulation for neurological disorders

Jishi, A., Qi, X., & Miranda, H. C. (2020) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2020.09.005 · Cited by 37 · see citing works

The fragile X mental retardation protein in the regulation of neuronal mRNA translation and stability

Rubeis, S. D. (2010) · Cineca Institutional Research Information System (Tor Vergata University) · doi:10.58015/de-rubeis-silvia_phd2010-01-14