Dendritic Anomalies in Disorders Associated with Mental Retardation

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Petrif, F., Giles, R. H., Dauwerse, H. G., Saris, J. J., Hennekam, R. C. M., Masuno, M., Tommerup, N., van Ommen, G.-J. B., Goodman, R. H., Peters, D. J. M., et al. (1995) · Nature · doi:10.1038/376348a0 · Cited by 1,217

Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits

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Histoanatomic observations of the brain in early infantile autism

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Analysis of neocortex in three males with the Fragile X syndrome

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Hippocampus in autism: a Golgi analysis

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Adult fragile X syndrome: Clinico-neuropathologic findings

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Structural abnormalities of the cerebral cortex in human chromosomal aberrations: a Golgi study

Marin-Padilla, M. (1972) · Brain Research · doi:10.1016/0006-8993(72)90324-1 · Cited by 290

Pyramidal cell abnormalities in the motor cortex of a child with Down's syndrome. A Golgi study

Marin‐Padilla, M. (1976) · Journal of Comparative Neurology · doi:10.1002/cne.901670105 · Cited by 285

Dendritic atrophy in children with down’s syndrome.

Becker, L. E., Armstrong, D. L., & Chan, F. (1986) · Annals of Neurology · doi:10.1002/ana.410200413 · Cited by 279

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

Dendritic spine pathology in neuropsychiatric disorders

Penzes, P., Cahill, M. E., Jones, K. A., VanLeeuwen, J.-E., & Woolfrey, K. M. (2011) · Nature Neuroscience · doi:10.1038/nn.2741 · Cited by 1,523

The Story of Rett Syndrome: From Clinic to Neurobiology

Chahrour, M., & Zoghbi, H. Y. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.001 · Cited by 1,265

Synaptic Targeting by Alzheimer's-Related Amyloid β Oligomers

Lacor, P. N., Buniel, M. C., Chang, L., Fernandez, S. J., Gong, Y., Viola, K. L., Lambert, M. P., Velasco, P. T., Bigio, E. H., Finch, C. E., et al. (2004) · The Journal of Neuroscience · doi:10.1523/jneurosci.3432-04.2004 · Cited by 954

Dendritic Spine Pathology: Cause or Consequence of Neurological Disorders?

Fiala, J. C., Spacek, J., & Harris, K. M. (2002) · Brain Research Reviews · doi:10.1016/s0165-0173(02)00158-3 · Cited by 811

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

Gilman, S. R., Iossifov, I., Levy, D., Ronemus, M., Wigler, M., & Vitkup, D. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.021 · Cited by 701

Branching out: mechanisms of dendritic arborization

Jan, Y.-N., & Jan, L. Y. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2836 · Cited by 693

Dynamic microtubules regulate dendritic spine morphology and synaptic plasticity

Jaworski, J., Kapitein, L. C., Gouveia, S. M., Dortland, B. R., Wulf, P. S., Grigoriev, I., Camera, P., Spangler, S. A., Di Stefano, P., Demmers, J., et al. (2009) · Neuron · doi:10.1016/j.neuron.2008.11.013 · Cited by 643

Experience and the developing prefrontal cortex

Kolb, B., Mychasiuk, R., Muhammad, A., Li, Y., Frost, D. O., & Gibb, R. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1121251109 · Cited by 564

Control of hippocampal dendritic spine morphology through ephrin-A3/EphA4 signaling

Murai, K. K., Nguyen, L. N., Irie, F., Yamaguchi, Y., & Pasquale, E. B. (2003) · Nature Neuroscience · doi:10.1038/nn994 · Cited by 516

Dendritic arbor development and synaptogenesis

Cline, H. T. (2001) · Current Opinion in Neurobiology · doi:10.1016/s0959-4388(00)00182-3 · Cited by 499

Cognitive deficits and associated neurological complications in individuals with Down's syndrome

Lott, I. T., & Dierssen, M. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70112-5 · Cited by 484

Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model

Bilousova, T. V., Dansie, L., Ngo, M., Aye, J., Charles, J. R., Ethell, D. W., & Ethell, I. M. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.061796 · Cited by 465

Dendritic structural plasticity and neuropsychiatric disease

Forrest, M. P., Parnell, E., & Penzes, P. (2018) · Nature Reviews Neuroscience · doi:10.1038/nrn.2018.16 · Cited by 464

Epigenetic mechanisms in neurological disease

Jakovcevski, M., & Akbarian, S. (2012) · Nature Medicine · doi:10.1038/nm.2828 · Cited by 450

The dendritic tree and brain disorders

Kulkarni, V. A., & Firestein, B. L. (2012) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2012.03.005 · Cited by 390

Reelin promotes hippocampal dendrite development through the VLDLR/ApoER2-Dab1 pathway

Niu, S., Renfro, A., Quattrocchi, C. C., Sheldon, M., & D'Arcangelo, G. (2004) · Neuron · doi:10.1016/s0896-6273(03)00819-5 · Cited by 375

Rho proteins, mental retardation and the cellular basis of cognition

Ramakers, G. J. A. (2002) · Trends in Neurosciences · doi:10.1016/s0166-2236(00)02118-4 · Cited by 374

Kalirin-7 Controls Activity-Dependent Structural and Functional Plasticity of Dendritic Spines

Xie, Z., Srivastava, D. P., Photowala, H., Kai, L., Cahill, M. E., Woolfrey, K. M., Shum, C. Y., Surmeier, D. J., & Penzes, P. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.005 · Cited by 373

Smaller Dendritic Spines, Weaker Synaptic Transmission, but Enhanced Spatial Learning in Mice Lacking Shank1

Hung, A. Y., Futai, K., Sala, C., Valtschanoff, J. G., Ryu, J., Woodworth, M. A., Kidd, F. L., Sung, C. C., Miyakawa, T., Bear, M. F., et al. (2008) · The Journal of Neuroscience · doi:10.1523/jneurosci.3032-07.2008 · Cited by 350

Rho GTPases, dendritic structure, and mental retardation

Newey, S. E., Velamoor, V., Govek, E., & Van Aelst, L. (2005) · Journal of Neurobiology · doi:10.1002/neu.20153 · Cited by 351

Delayed Stabilization of Dendritic Spines in Fragile X Mice

Cruz-Martin, A., Crespo, M., & Portera-Cailliau, C. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.0577-10.2010 · Cited by 321

The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis

Govek, E.-E., Newey, S. E., Akerman, C. J., Cross, J. R., Van der Veken, L., & Van Aelst, L. (2004) · Nature Neuroscience · doi:10.1038/nn1210 · Cited by 293

Dendritic spine formation and stabilization

Yoshihara, Y., De Roo, M., & Muller, D. (2009) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2009.05.013 · Cited by 292

Widespread changes in dendritic and axonal morphology in Mecp2‐mutant mouse models of rett syndrome: Evidence for disruption of neuronal networks

Belichenko, P. V., Wright, E. E., Belichenko, N. P., Masliah, E., Li, H. H., Mobley, W. C., & Francke, U. (2009) · Journal of Comparative Neurology · doi:10.1002/cne.22009 · Cited by 272

WNT signaling in neuronal maturation and synaptogenesis

Rosso, S. B., & Inestrosa, N. C. (2013) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2013.00103 · Cited by 272

Control of synapse development and plasticity by Rho GTPase regulatory proteins

Tolias, K. F., Duman, J. G., & Um, K. (2011) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2011.04.011 · Cited by 261

Mecp2 deficiency leads to delayed maturation and altered gene expression in hippocampal neurons

Smrt, R. D., Eaves-Egenes, J., Barkho, B. Z., Santistevan, N. J., Zhao, C., Aimone, J. B., Gage, F. H., & Zhao, X. (2007) · Neurobiology of Disease · doi:10.1016/j.nbd.2007.04.005 · Cited by 239

Control of Dendritic Branching and Tiling by the Tricornered-Kinase/Furry Signaling Pathway in Drosophila Sensory Neurons

Emoto, K., He, Y., Ye, B., Grueber, W. B., Adler, P. N., Jan, L. Y., & Jan, Y.-N. (2004) · Cell · doi:10.1016/j.cell.2004.09.036 · Cited by 235

A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

Hussman, J. P., Chung, R.-H., Griswold, A. J., Jaworski, J. M., Salyakina, D., Ma, D., Konidari, I., Whitehead, P. L., Vance, J. M., Martin, E. R., et al. (2011) · Molecular Autism · doi:10.1186/2040-2392-2-1 · Cited by 231

Open-label add-on treatment trial of minocycline in fragile X syndrome.

Paribello, C., Tao, L., Folino, A., Berry-Kravis, E., Tranfaglia, M., Ethell, I. M., & Ethell, D. W. (2010) · BMC Neurology · doi:10.1186/1471-2377-10-91 · Cited by 223

Delayed Maturation of Neuronal Architecture and Synaptogenesis in Cerebral Cortex of Mecp2-Deficient Mice

Fukuda, T., Itoh, M., Ichikawa, T., Washiyama, K., & Goto, Y.-I. (2005) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/64.6.537 · Cited by 221

Developmental origins of brain disorders: roles for dopamine

Money, K. M., & Stanwood, G. D. (2013) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2013.00260 · Cited by 221

What happens to your brain on the way to Mars

Parihar, V. K., Allen, B., Tran, K. K., Macaraeg, T. G., Chu, E. M., Kwok, S. F., Chmielewski, N. N., Craver, B. M., Baulch, J. E., Acharya, M. M., et al. (2015) · Science Advances · doi:10.1126/sciadv.1400256 · Cited by 217

MNB/DYRK1A as a multiple regulator of neuronal development

Tejedor, F. J., & Hämmerle, B. (2011) · The FEBS Journal · doi:10.1111/j.1742-4658.2010.07954.x · Cited by 214

Rett syndrome: a neurological disorder with metabolic components

Kyle, S. M., Vashi, N., & Justice, M. J. (2018) · Open Biology · doi:10.1098/rsob.170216 · Cited by 213

The tumour suppressor Hippo acts with the NDR kinases in dendritic tiling and maintenance.

Emoto, K., Parrish, J. Z., Jan, L. Y., & Jan, Y.-N. (2006) · Nature · doi:10.1038/nature05090 · Cited by 194

Human Models Are Needed for Studying Human Neurodevelopmental Disorders

Zhao, X., & Bhattacharyya, A. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.10.009 · Cited by 192

Fragile X mental retardation protein induces synapse loss through acute postsynaptic translational regulation

Pfeiffer, B. E., & Huber, K. M. (2007) · The Journal of Neuroscience · doi:10.1523/jneurosci.0054-07.2007 · Cited by 189

Disruption of Arp2/3 Results in Asymmetric Structural Plasticity of Dendritic Spines and Progressive Synaptic and Behavioral Abnormalities

Kim, I. H., Racz, B., Wang, H., Burianek, L., Weinberg, R., Yasuda, R., Wetsel, W. C., & Soderling, S. H. (2013) · The Journal of Neuroscience · doi:10.1523/jneurosci.0035-13.2013 · Cited by 172

Astrocytes prevent abnormal neuronal development in the fragile X mouse.

Jacobs, S., & Doering, L. C. (2010) · The Journal of Neuroscience · doi:10.1523/jneurosci.5027-09.2010 · Cited by 170

Remodeling of axo-spinous synapses in the pathophysiology and treatment of depression

Licznerski, P., & Duman, R. S. (2013) · Neuroscience · doi:10.1016/j.neuroscience.2012.09.057 · Cited by 157

Therapeutic implications of the mGluR theory of fragile X mental retardation

Bear, M. F. (2005) · Genes, Brain and Behavior · doi:10.1111/j.1601-183x.2005.00135.x · Cited by 137

Fetal Down Syndrome Brains Exhibit Aberrant Levels of Neurotransmitters Critical for Normal Brain Development

Whittle, N., Sartori, S. B., Dierssen, M., Lubec, G., & Singewald, N. (2007) · Pediatrics · doi:10.1542/peds.2006-3448 · Cited by 127

A Role for Thrombospondin-1 Deficits in Astrocyte-Mediated Spine and Synaptic Pathology in Down's Syndrome

Garcia, O., Torres, M., Helguera, P., Coskun, P., & Busciglio, J. (2010) · PLoS ONE · doi:10.1371/journal.pone.0014200 · Cited by 122

Reversal of Fragile X Phenotypes by Manipulation of AβPP/Aβ Levels in Fmr1KO Mice

Westmark, C. J., Westmark, P. R., O'Riordan, K. J., Ray, B. C., Hervey, C. M., Salamat, M. S., Abozeid, S. H., Stein, K. M., Stodola, L. A., Tranfaglia, M., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0026549 · Cited by 110

Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice

Gantois, I., Pop, A. S., de Esch, C. E. F., Buijsen, R. A. M., Pooters, T., Gomez-Mancilla, B., Gasparini, F., Oostra, B. A., D’Hooge, R., & Willemsen, R. (2013) · Behavioural Brain Research · doi:10.1016/j.bbr.2012.10.059 · Cited by 100

The psychoses: Cluster 3 of the proposed meta-structure for DSM-V and ICD-11: Paper 4 of 7 of the thematic section: ‘A proposal for a meta-structure for DSM-V and ICD-11’

Carpenter, W. T., Bustillo, J. R., Thaker, G. K., van Os, J., Krueger, R. F., & Green, M. J. (2009) · Psychological Medicine · doi:10.1017/s0033291709990286 · Cited by 99

Matrix metalloproteinase‐7 disrupts dendritic spines in hippocampal neurons through NMDA receptor activation

Bilousova, T. V., Rusakov, D. A., Ethell, D. W., & Ethell, I. M. (2006) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2006.03701.x · Cited by 98

Neurodevelopmental disorders: Cluster 2 of the proposed meta-structure for DSM-V and ICD-11: Paper 3 of 7 of the thematic section: ‘A proposal for a meta-structure for DSM-V and ICD-11’

Andrews, G., Pine, D. S., Hobbs, M. J., Anderson, T. M., & Sunderland, M. (2009) · Psychological Medicine · doi:10.1017/s0033291709990274 · Cited by 94

Long-lasting effects of minocycline on behavior in young but not adult Fragile X mice.

Dansie, L. E., Phommahaxay, K., Okusanya, A. G., Uwadia, J., Huang, M., Rotschafer, S. E., Razak, K. A., Ethell, D. W., & Ethell, I. M. (2013) · Neuroscience · doi:10.1016/j.neuroscience.2013.04.058 · Cited by 95

Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant

Pop, A. S., Levenga, J., de Esch, C. E. F., Buijsen, R. A. M., Nieuwenhuizen, I. M., Li, T., Isaacs, A., Gasparini, F., Oostra, B. A., & Willemsen, R. (2014) · Psychopharmacology · doi:10.1007/s00213-012-2947-y · Cited by 93

Altered behavioral performance and live imaging of circuit-specific neural deficiencies in a zebrafish model for psychomotor retardation

Zada, D., Tovin, A., Lerer-Goldshtein, T., Vatine, G. D., & Appelbaum, L. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004615 · Cited by 92

δ-Catenin Is Required for the Maintenance of Neural Structure and Function in Mature Cortex In Vivo

Matter, C., Pribadi, M., Liu, X., & Trachtenberg, J. T. (2009) · Neuron · doi:10.1016/j.neuron.2009.09.026 · Cited by 89

Dynamics and pathology of dendritic spines

Halpain, S., Spencer, K., & Graber, S. (2005) · Progress in Brain Research · doi:10.1016/s0079-6123(04)47003-4 · Cited by 88

Alteration of inhibitory circuits in the somatosensory cortex of Ts65Dn mice, a model for down’s syndrome.

Pérez-Cremades, D., Hernández, S., Blasco-Ibáñez, J. M., Crespo, C., Nacher, J., & Varea, E. (2010) · Journal of Neural Transmission · doi:10.1007/s00702-010-0376-9 · Cited by 85

Astrocyte-secreted thrombospondin-1 modulates synapse and spine defects in the fragile X mouse model.

Cheng, C., Lau, S. K. M., & Doering, L. C. (2016) · Molecular Brain · doi:10.1186/s13041-016-0256-9 · Cited by 84

Synaptically released matrix metalloproteinase activity in control of structural plasticity and the cell surface distribution of GluA1-AMPA receptors

Szepesi, Z., Hosy, E., Ruszczycki, B., Bijata, M., Pyskaty, M., Bikbaev, A., Heine, M., Choquet, D., Kaczmarek, L., & Wlodarczyk, J. (2014) · PLoS ONE · doi:10.1371/journal.pone.0098274 · Cited by 83

The spatio‐temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development

Hämmerle, B., Elizalde, C., & Tejedor, F. J. (2008) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2008.06092.x · Cited by 82

Early continuous inhibition of group 1 mGlu signaling partially rescues dendritic spine abnormalities in the Fmr1 knockout mouse model for fragile X syndrome

Su, T., Fan, H.-X., Jiang, T., Sun, W.-W., Den, W.-Y., Gao, M.-M., Chen, S.-Q., Zhao, Q.-H., & Yi, Y.-H. (2011) · Psychopharmacology · doi:10.1007/s00213-010-2130-2 · Cited by 76

Modulation of actin dynamics by Rac1 to target cognitive function

Tejada‐Simon, M. V. (2015) · Journal of Neurochemistry · doi:10.1111/jnc.13100 · Cited by 76

SNAP-25 regulates spine formation through postsynaptic binding to p140Cap

Tomasoni, R., Repetto, D., Morini, R., Elia, C., Gardoni, F., Di Luca, M., Turco, E., Defilippi, P., & Matteoli, M. (2013) · Nature Communications · doi:10.1038/ncomms3136 · Cited by 71

DSCAM Contributes to Dendrite Arborization and Spine Formation in the Developing Cerebral Cortex

Maynard, K. R., & Stein, E. (2012) · The Journal of Neuroscience · doi:10.1523/jneurosci.2811-12.2012 · Cited by 67

Dendritic Spine Initiation in Brain Development, Learning and Diseases and Impact of BAR-Domain Proteins

Khanal, P., & Hotulainen, P. (2021) · Cells · doi:10.3390/cells10092392 · Cited by 60

Differential translation and fragile X syndrome

Vanderklish, P. W., & Edelman, G. M. (2005) · Genes, Brain and Behavior · doi:10.1111/j.1601-183x.2005.00134.x · Cited by 59

Kalirin loss results in cortical morphological alterations

Xie, Z., Cahill, M. E., & Penzes, P. (2010) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2009.09.006 · Cited by 56

ANAVEX®2-73 (blarcamesine), a Sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of Rett syndrome

Kaufmann, W. E., Sprouse, J., Rebowe, N., Hanania, T., Klamer, D., & Missling, C. U. (2019) · Pharmacology Biochemistry and Behavior · doi:10.1016/j.pbb.2019.172796 · Cited by 54

Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome

Segatto, M., Tonini, C., Pfrieger, F. W., Trezza, V., & Pallottini, V. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20133317 · Cited by 51

Neuronal nucleus and cytoplasm volume deficit in children with autism and volume increase in adolescents and adults

Wegiel, J., Flory, M., Kuchna, I., Nowicki, K., Ma, S. Y., Imaki, H., Wegiel, J., Frackowiak, J., Kolecka, B. M., Wierzba-Bobrowicz, T., et al. (2015) · Acta Neuropathologica Communications · doi:10.1186/s40478-015-0183-5 · Cited by 47

Role of MeCP2, DNA methylation, and HDACs in regulating synapse function

Kavalali, E. T., Nelson, E. D., & Monteggia, L. M. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9078-3 · Cited by 46

The histone demethylase PHF8 is essential for cytoskeleton dynamics

Asensio-Juan, E., Gallego, C., & Martínez-Balbás, M. A. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks716 · Cited by 46

Phospholipid Homeostasis Regulates Dendrite Morphogenesis in Drosophila Sensory Neurons

Meltzer, S., Bagley, J. A., Perez, G. L., O’Brien, C. E., DeVault, L., Guo, Y., Jan, L. Y., & Jan, Y.-N. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.09.089 · Cited by 45

Intense and specialized dendritic localization of the fragile X mental retardation protein in binaural brainstem neurons: a comparative study in the alligator, chicken, gerbil, and human

Wang, Y., Sakano, H., Beebe, K., Brown, M. R., de Laat, R., Bothwell, M., Kulesza, R. J., & Rubel, E. W. (2014) · Journal of Comparative Neurology · doi:10.1002/cne.23520 · Cited by 40

Synaptic actin stabilization protein loss in Down syndrome and Alzheimer disease

Lauterborn, J. C., Cox, C. D., Chan, S. W., Vanderklish, P. W., Lynch, G., & Gall, C. M. (2020) · Brain Pathology · doi:10.1111/bpa.12779 · Cited by 43

Bisphenol-A impairs synaptic formation and function by RGS4-mediated regulation of BDNF signaling in the cerebral cortex

Hyun, S.-A., Ko, M. Y., Jang, S., Lee, B.-S., Rho, J., Kim, K. K., Kim, W.-Y., & Ka, M. (2022) · Disease Models & Mechanisms · doi:10.1242/dmm.049177 · Cited by 40

Neuropathology of Schizophrenia

Harrison, P. J., Lewis, D. A., & Kleinman, J. E. (2010) · Schizophrenia · doi:10.1002/9781444327298.ch18 · Cited by 26

Basal Dendritic Morphology of Cortical Pyramidal Neurons in Williams Syndrome: Prefrontal Cortex and Beyond

Hrvoj-Mihic, B., Hanson, K. L., Lew, C. H., Stefanacci, L., Jacobs, B., Bellugi, U., & Semendeferi, K. (2017) · Frontiers in Neuroscience · doi:10.3389/fnins.2017.00419 · Cited by 21