A Mouse Model of Tuberous Sclerosis: Neuronal Loss of Tsc1 Causes Dysplastic and Ectopic Neurons, Reduced Myelination, Seizure Activity, and Limited Survival
Open accessAbstract
Tuberous sclerosis (TSC) is a hamartoma syndrome caused by mutations in TSC1 or TSC2 in which cerebral cortical tubers and seizures are major clinical issues. We have engineered mice in which most cortical neurons lose Tsc1 expression during embryonic development. These Tsc1 mutant mice display several neurological abnormalities beginning at postnatal day 5 with subsequent failure to thrive and median survival of 35 d. The mice also display clinical and electrographic seizures both spontaneously and with physical stimulation, and some seizures end in a fatal tonic phase. Many cortical and hippocampal neurons are enlarged and/or dysplastic in the Tsc1 mutant mice, strongly express phospho-S6, and are ectopic in multiple sites in the cortex and hippocampus. There is a striking delay in myelination in the mutant mice, which appears to be caused by an inductive neuronal defect. This new TSC brain model replicates several features of human TSC brain lesions and implicates an important function of Tsc1/Tsc2 in neuronal development.
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
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?
TSC1-TSC2 loss affects neuronal development and properties.
“In addition, whereas this work highlights astrocytes, we also observed transcriptomic changes in neurons, and considerable previous work has shown that TSC1–TSC2 loss affects neuronal development and properties11,13,35,55,56,57.”
From mTORC1 drives cell-autonomous astrocyte reactivity in tuberous sclerosis (2026) · cites this paper as [11]
mTOR hyperactivation accompanies epileptic activity across animal models of temporal lobe epilepsy, post-traumatic epilepsy, focal cortical dysplasia II, Dravet syndrome, autism spectrum disorder, and tuberous sclerosis complex.
“Furthermore, mTOR hyperactivation accompanies epileptic activity across different seizure models including animal models of TLE, PTE, FCDII, Dravet syndrome, ASD, and TSC (Meikle et al., 2007; Zeng et al., 2008; Sha et al., 2012; Guo et al., 2013; Gheyara et al., 2014; Butler et al., 2015; Marsan and Baulac, 2018; Tai et al., 2020; Shao et al., 2022).”
From Tauopathy and Epilepsy Comorbidities and Underlying Mechanisms (2022) · cites this paper as Meikle et al., 2007
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Liang, H., Liang, P., Xu, Y., Wu, J., Liang, T., & Xu, X. (2009) · Journal of Neurotrauma · doi:10.1089/neu.2008.0850 · Cited by 1,743 · see citing works
Growing roles for the mTOR pathway
Sarbassov, D. D., Ali, S. M., & Sabatini, D. M. (2005) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2005.09.009 · Cited by 1,556 · see citing works
GAP-43: an intrinsic determinant of neuronal development and plasticity
Benowitz, L. I., & Routtenberg, A. (1997) · Trends in Neurosciences · doi:10.1016/s0166-2236(96)10072-2 · Cited by 1,332 · see citing works
Hypothalamic mTOR Signaling Regulates Food Intake
Cota, D., Proulx, K., Smith, K. A. B., Kozma, S. C., Thomas, G., Woods, S. C., & Seeley, R. J. (2006) · Science · doi:10.1126/science.1124147 · Cited by 1,278 · see citing works
Holz, M. K., Ballif, B. A., Gygi, S. P., & Blenis, J. (2005) · Cell · doi:10.1016/j.cell.2005.10.024 · Cited by 1,262 · see citing works
Dysregulation of the TSC-mTOR pathway in human disease
Inoki, K., Corradetti, M. N., & Guan, K. (2004) · Nature Genetics · doi:10.1038/ng1494 · Cited by 970 · see citing works
Kwiatkowski, D. J. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.5.525 · Cited by 667 · see citing works
Self-citationFluoro-Jade C results in ultra high resolution and contrast labeling of degenerating neurons
Schmued, L. C., Stowers, C. C., Scallet, A. C., & Xu, L. (2005) · Brain Research · doi:10.1016/j.brainres.2004.11.054 · Cited by 633 · see citing works
Zhu, Y., Romero‐Ortega, M. I., Ghosh, P., Ye, Z., Charnay, P., Rushing, E. J., Marth, J. D., & Parada, L. F. (2001) · Genes & Development · doi:10.1101/gad.862101 · Cited by 606 · see citing works
Smalley, S. L., Tanguay, P. E., Smith, M., & Gutierrez, G. (1992) · Journal of Autism and Developmental Disorders · doi:10.1007/bf01048239 · Cited by 518 · see citing works
Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2
Tavazoie, S. F., Alvarez, V. A., Ridenour, D. A., Kwiatkowski, D. J., & Sabatini, B. L. (2005) · Nature Neuroscience · doi:10.1038/nn1566 · Cited by 497 · see citing works
Self-citationTuberin Regulates p70 S6 Kinase Activation and Ribosomal Protein S6 Phosphorylation
Goncharova, E., Goncharov, D. A., Eszterhas, A., Hunter, D., Glassberg, M., Yeung, R. S., Walker, C., Noonan, D., Kwiatkowski, D., Chou, M. M., et al. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m202678200 · Cited by 433 · see citing works
Self-citationLocal translation of RhoA regulates growth cone collapse
Wu, K. Y., Hengst, U., Cox, L. J., Macosko, E. Z., Jeromin, A., Urquhart, E. R., & Jaffrey, S. R. (2005) · Nature · doi:10.1038/nature03885 · Cited by 423 · see citing works
Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways
Kwiatkowski, D. J., & Manning, B. D. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi260 · Cited by 395 · see citing works
Self-citationUhlmann, E. J., Wong, M., Baldwin, R. L., Bajenaru, M. L., Onda, H., Kwiatkowski, D. J., Yamada, K., & Gutmann, D. H. (2002) · Annals of Neurology · doi:10.1002/ana.10283 · Cited by 372 · see citing works
Self-citationAxonal Control of Oligodendrocyte Development
Barres, B. A., & Raff, M. C. (1999) · The Journal of Cell Biology · doi:10.1083/jcb.147.6.1123 · Cited by 360 · see citing works
Molecular genetic advances in tuberous sclerosis
Cheadle, J. P., Reeve, M. P., Sampson, J. R., & Kwiatkowski, D. J. (2000) · Human Genetics · doi:10.1007/s004390000348 · Cited by 350 · see citing works
Self-citationTuberous Sclerosis: from Tubers to mTOR
Kwiatkowski, D. J. (2003) · Annals of Human Genetics · doi:10.1046/j.1469-1809.2003.00012.x · Cited by 340 · see citing works
Self-citationImproved reporter strain for monitoring Cre recombinase-mediated DNA excisions in mice
Mao, X., Fujiwara, Y., & Orkin, S. H. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.9.5037 · Cited by 332 · see citing works
The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho
Lamb, R. F., Roy, C., Diefenbach, T. J., Vinters, H. V., Johnson, M. W., Jay, D. G., & Hall, A. (2000) · Nature Cell Biology · doi:10.1038/35010550 · Cited by 326 · see citing works
mTOR, translational control and human disease
Tee, A. R., & Blenis, J. (2005) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2004.11.005 · Cited by 320 · see citing works
Chan, J. A.-W., Zhang, H., Roberts, P. S., Jóźwiak, S., Grajkowska, W., Lewin‐Kowalik, J., Kotulska, K., & Kwiatkowski, D. J. (2004) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/63.12.1236 · Cited by 257 · see citing works
Self-citationmTOR cascade activation distinguishes tubers from focal cortical dysplasia
Baybis, M., Yu, J., Lee, A., Golden, J. A., Weiner, H. L., McKhann, G. M., Aronica, E., & Crino, P. B. (2004) · Annals of Neurology · doi:10.1002/ana.20211 · Cited by 255 · see citing works
Benvenuto, G., Li, S., Brown, S. J., Braverman, R., Vass, W. C., Cheadle, J. P., Halley, D. J. J., Sampson, J. R., Wienecke, R., & DeClue, J. E. (2000) · Oncogene · doi:10.1038/sj.onc.1204009 · Cited by 253 · see citing works
Talos, D. M., Follett, P. L., Folkerth, R. D., Fishman, R. E., Trachtenberg, F. L., Volpe, J. J., & Jensen, F. E. (2006) · The Journal of Comparative Neurology · doi:10.1002/cne.20978 · Cited by 243 · see citing works
Self-citationTSC1 Stabilizes TSC2 by Inhibiting the Interaction between TSC2 and the HERC1 Ubiquitin Ligase
Chong-Kopera, H., Inoki, K., Li, Y., Zhu, T., Garcia-Gonzalo, F. R., Rosa, J. L., & Guan, K.-L. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.c500451200 · Cited by 234 · see citing works
Polito, A., & Reynolds, R. (2005) · Journal of Anatomy · doi:10.1111/j.1469-7580.2005.00454.x · Cited by 231 · see citing works
Managing Epilepsy in Tuberous Sclerosis Complex
Thiele, E. A. (2004) · Journal of Child Neurology · doi:10.1177/08830738040190090801 · Cited by 222 · see citing works
Neuron-glia communication in the control of oligodendrocyte function and myelin biogenesis
Simons, M., & Trajković, K. (2006) · Journal of Cell Science · doi:10.1242/jcs.03242 · Cited by 218 · see citing works
Wiznitzer, M. (2004) · Journal of Child Neurology · doi:10.1177/08830738040190090701 · Cited by 214 · see citing works
Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease
Astrinidis, A., & Henske, E. P. (2005) · Oncogene · doi:10.1038/sj.onc.1209090 · Cited by 209 · see citing works
Niida, Y., Stemmer-Rachamimov, A. O., Logrip, M. L., Tapon, D., Perez, R., Kwiatkowski, D. J., Sims, K. B., MacCollin, M., Louis, D. N., & Ramesh, V. (2001) · The American Journal of Human Genetics · doi:10.1086/321972 · Cited by 205 · see citing works
Self-citationImpaired glial glutamate transport in a mouse tuberous sclerosis epilepsy model
Wong, M. L., Ess, K. C., Uhlmann, E. J., Jansen, L. A., Li, W., Crino, P. B., Mennerick, S. J., Yamada, K. A., & Gutmann, D. H. (2003) · Annals of Neurology · doi:10.1002/ana.10648 · Cited by 199 · see citing works
El-Hashemite, N., Zhang, H., Henske, E. P., & Kwiatkowski, D. J. (2003) · The Lancet · doi:10.1016/s0140-6736(03)13044-9 · Cited by 196 · see citing works
Self-citationKapfhammer, J. P., & Schwab, M. E. (1994) · The Journal of Comparative Neurology · doi:10.1002/cne.903400206 · Cited by 194 · see citing works
(1999) · doi:10.1093/oso/9780195122107.001.0001 · Cited by 175 · see citing works
Brain Abnormalities in Tuberous Sclerosis Complex
DiMario, F. J. (2004) · Journal of Child Neurology · doi:10.1177/08830738040190090401 · Cited by 165 · see citing works
Insulin signaling pathways in cortical dysplasia and TSC‐tubers: Tissue microarray analysis
Miyata, H., Chiang, A., & Vinters, H. V. (2004) · Annals of Neurology · doi:10.1002/ana.20234 · Cited by 152 · see citing works
Hsieh, S. H. ‐., Ferraro, G. B., & Fournier, A. E. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.2806-05.2006 · Cited by 151 · see citing works
Astrinidis, A., Cash, T. P., Hunter, D., Walker, C. L., Chernoff, J., & Henske, E. P. (2002) · Oncogene · doi:10.1038/sj.onc.1205962 · Cited by 151 · see citing works
Talos, D. M., Fishman, R. E., Park, H., Folkerth, R. D., Follett, P. L., Volpe, J. J., & Jensen, F. E. (2006) · The Journal of Comparative Neurology · doi:10.1002/cne.20972 · Cited by 145 · see citing works
Self-citationHirose, T., Scheithauer, B. W., Lopes, M. B. S., Gerber, H., Altermatt, H. J., Hukee, M. J., VandenBerg, S. R., & Charlesworth, J. C. (1995) · Acta Neuropathologica · doi:10.1007/bf00315012 · Cited by 144 · see citing works
Wang, Y., Greenwood, J. S. F., Calcagnotto, M. E., Kirsch, H. E., Barbaro, N., & Baraban, S. (2007) · Annals of Neurology · doi:10.1002/ana.21058 · Cited by 141 · see citing works
Disruption of Interneuron Development
Levitt, P. R. (2005) · Epilepsia · doi:10.1111/j.1528-1167.2005.00305.x · Cited by 128 · see citing works
Onda, H. (2002) · Molecular and Cellular Neuroscience · doi:10.1006/mcne.2002.1184 · Cited by 126 · see citing works
Self-citationTSC2 modulates actin cytoskeleton and focal adhesion through TSC1-binding domain and the Rac1 GTPase
Goncharova, E. A., Goncharov, D. A., Noonan, D. J., & Krymskaya, V. P. (2004) · The Journal of Cell Biology · doi:10.1083/jcb.200405130 · Cited by 114 · see citing works
de Vries, P., Humphrey, A., McCartney, D. L., Prather, P. A., Bolton, P., & Hunt, A. L. (2005) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-005-0443-1 · Cited by 105 · see citing works
Ulfig, N., Nickel, J., & Böhl, J. (1998) · Cell and Tissue Research · doi:10.1007/s004410051013 · Cited by 103 · see citing works
Molecular Pathogenesis of Tuber Formation in Tuberous Sclerosis Complex
Crino, P. B. (2004) · Journal of Child Neurology · doi:10.1177/08830738040190091301 · Cited by 100 · see citing works
Subependymal astrocytic hamartomas in the Eker rat model of tuberous sclerosis.
Yeung, R. S. W., Katsetos, C. D., & Klein–Szanto, A. J. (1997) · Europe PMC (PubMed Central) · Cited by 93 · see citing works
Han, S., Santos, T. M., Puga, A. C., Roy, J., Thiele, E. A., McCollin, M., Stemmer-Rachamimov, A. O., & Ramesh, V. (2004) · Cancer Research · doi:10.1158/0008-5472.can-03-3277 · Cited by 84 · see citing works
Widespread anatomical abnormalities of grey and white matter structure in tuberous sclerosis
Ridler, K., Bullmore, E. T., de Vries, P. J., John Suckling, A., Barker, G. J., Meara, S. J. P., Williams, S., & Bolton, P. (2001) · Psychological Medicine · doi:10.1017/s0033291701004561 · Cited by 84 · see citing works
A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes
Meikle, L. M., McMullen, J. R., Sherwood, M. C., Lader, A. S., Walker, V., Chan, J. A.-W., & Kwiatkowski, D. J. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddi039 · Cited by 77 · see citing works
Self-citationFine structure of cortical tubers in tuberous sclerosis: A Golgi study
Huttenlocher, P. R., & Heydemann, P. T. (1984) · Annals of Neurology · doi:10.1002/ana.410160511 · Cited by 74 · see citing works
Erzurumlu, R. S., Jhaveri, S., & Benowitz, L. I. (1990) · The Journal of Comparative Neurology · doi:10.1002/cne.902920310 · Cited by 73 · see citing works
New Chronic EEG Electrode for Critical/Intensive Care Unit Monitoring
Ives, J. R. (2005) · Journal of Clinical Neurophysiology · doi:10.1097/01.wnp.0000152659.30753.47 · Cited by 69 · see citing works
Pathogenesis of hereditary tumors: beyond the “two‐hit” hypothesis
Tucker, T. E., & Friedman, J. M. (2002) · Clinical Genetics · doi:10.1034/j.1399-0004.2002.620501.x · Cited by 66 · see citing works
Tuberous Sclerosis Complex: from basic science to clinical phenotypes
Curatolo, P. (2007) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.2005.tb01114.x · Cited by 65 · see citing works
Morphology of cerebral lesions in the Eker rat model of tuberous sclerosis
Wenzel, H. J., Patel, L. S., Robbins, C. A., Emmi, A., Yeung, R. S., & Schwartzkroin, P. A. (2004) · Acta Neuropathologica · doi:10.1007/s00401-004-0865-8 · Cited by 64 · see citing works
Dr., N. L. P., & Levine, C. C. (2004) · Springer eBooks · doi:10.1007/3-540-29668-9_2766 · Cited by 59 · see citing works
Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex
Ess, K. C., Kamp, C. A., Tu, B. P., & Gutmann, D. H. (2005) · Neurology · doi:10.1212/01.wnl.0000158653.81008.49 · Cited by 59 · see citing works
Boggs, J. M., Wang, H., Gao, W., Arvanitis, D. N., Gong, Y., & Min, W. (2004) · Glycoconjugate Journal · doi:10.1023/b:glyc.0000044842.34958.f8 · Cited by 43 · see citing works
Ess, K. C., Uhlmann, E. J., Li, W., Li, H., DeClue, J. E., Crino, P. B., & Gutmann, D. H. (2004) · Glia · doi:10.1002/glia.10324 · Cited by 40 · see citing works
Fine structure of atypical cells in tuberous sclerosis
Arseni, C., Alexianu, M., Horvat, L., Alexianu, D., & Petrovici, A. (1972) · Acta Neuropathologica · doi:10.1007/bf00688497 · Cited by 38 · see citing works
Myelin under construction—teamwork required
Boiko, T., & Winckler, B. (2006) · The Journal of Cell Biology · doi:10.1083/jcb.200602101 · Cited by 28 · see citing works
da Silva, A. V., Regondi, M. C., Cavalheiro, É. A., & Spreafico, R. (2005) · Epilepsia · doi:10.1111/j.1528-1167.2005.01003.x · Cited by 23 · see citing works
Magnetization transfer ratio measurements of the brain in children with tuberous sclerosis complex
Zikou, A. K., Ioannidou, M.-C., Tzoufi, M. S., Astrakas, L. G., & Argyropoulou, M. I. (2005) · Pediatric Radiology · doi:10.1007/s00247-005-1539-y · Cited by 15 · see citing works
Scheithauer, B. W., & Reagan, T. J. (1999) · doi:10.1093/oso/9780195122107.003.0009 · Cited by 11 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- Gomez M, Sampson J, Whittemore V (1999) The tuberous sclerosis com- plex. Oxford: Oxford UP.
Cited by
Sorted by citations
Promoting Axon Regeneration in the Adult CNS by Modulation of the PTEN/mTOR Pathway
Park, K. K., Liu, K., Hu, Y., Smith, P. D., Wang, C., Cai, B., Xu, B., Connolly, L., Kramvis, I., Sahin, M., et al. (2008) · Science · doi:10.1126/science.1161566 · Cited by 1,686 · see citing works
Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
Tsai, P. T., Hull, C., Chu, Y., Greene-Colozzi, E., Sadowski, A. R., Leech, J. M., Steinberg, J., Crawley, J. N., Regehr, W. G., & Sahin, M. (2012) · Nature · doi:10.1038/nature11310 · Cited by 888 · see citing works
Postsynaptic BDNF‐TrkB signaling in synapse maturation, plasticity, and disease
Yoshii, A., & Constantine‐Paton, M. (2010) · Developmental Neurobiology · doi:10.1002/dneu.20765 · Cited by 744 · see citing works
Lipton, J. O., & Şahin, M. (2014) · Neuron · doi:10.1016/j.neuron.2014.09.034 · Cited by 732 · see citing works
Disentangling the heterogeneity of autism spectrum disorder through genetic findings
Jeste, S. S., & Geschwind, D. H. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2013.278 · Cited by 644 · 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
Autism spectrum disorder: neuropathology and animal models
Varghese, M., Keshav, N., Jacot-Descombes, S., Warda, T., Wicinski, B., Dickstein, D. L., Harony-Nicolas, H., De Rubeis, S., Drapeau, E., Buxbaum, J. D., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1736-4 · Cited by 536 · see citing works
Gao, R., & Penzes, P. (2015) · Current Molecular Medicine · doi:10.2174/1566524015666150303003028 · Cited by 516 · see citing works
Meikle, L. M., Pollizzi, K. N., Egnor, A., Kramvis, I., Lane, H. A., Şahin, M., & Kwiatkowski, D. J. (2008) · Journal of Neuroscience · doi:10.1523/jneurosci.0955-08.2008 · Cited by 500 · see citing works
Self-citationZhou, J., Blundell, J., Ogawa, S., Kwon, C.-H., Zhang, W., Sinton, C., Powell, C. M., & Parada, L. F. (2009) · The Journal of Neuroscience · doi:10.1523/jneurosci.5685-08.2009 · Cited by 441 · see citing works
Everolimus treatment of refractory epilepsy in tuberous sclerosis complex
Krueger, D. A., Wilfong, A. A., Holland‐Bouley, K. D., Anderson, A. E., Agricola, K. D., Tudor, C., Mays, M., Lopez, C., Kim, M., & Franz, D. N. (2013) · Annals of Neurology · doi:10.1002/ana.23960 · Cited by 389 · see citing works
Bateup, H. S., Johnson, C. A., Denefrio, C. L., Saulnier, J. L., Kornacker, K., & Sabatini, B. L. (2013) · Neuron · doi:10.1016/j.neuron.2013.03.017 · Cited by 327 · see citing works
D’Gama, A. M., Woodworth, M. B., Hossain, A. A., Bizzotto, S., Hatem, N. E., LaCoursiere, C. M., Najm, I., Ying, Z., Yang, E., Barkovich, A. J., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.11.106 · Cited by 330 · see citing works
Self-citationAkt Signals through the Mammalian Target of Rapamycin Pathway to Regulate CNS Myelination
Narayanan, S. P., Flores, A. I., Wang, F., & Macklin, W. B. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.0232-09.2009 · Cited by 326 · see citing works
Molecular Profiling of Activated Neurons by Phosphorylated Ribosome Capture
Knight, Z. A., Tan, K., Birsoy, K., Schmidt, S. F., Garrison, J. L., Wysocki, R. W., Emiliano, A. B., Ekstrand, M. I., & Friedman, J. M. (2012) · Cell · doi:10.1016/j.cell.2012.10.039 · Cited by 312 · see citing works
Human cerebral organoids — a new tool for clinical neurology research
Eichmüller, O. L., & Knoblich, J. A. (2022) · Nature Reviews Neurology · doi:10.1038/s41582-022-00723-9 · Cited by 260 · see citing works
Tuberous sclerosis complex proteins control axon formationPreprint
Choi, Y.-J., Nardo, A. D., Kramvis, I., Meikle, L. M., Kwiatkowski, D. J., Şahin, M., & He, X. (2008) · Genes & Development · doi:10.1101/gad.1685008 · Cited by 258 · see citing works
Self-citationMagri, L., Cambiaghi, M., Cominelli, M., Alfaro‐Cervelló, C., Cursi, M., Pala, M., Bulfone, A., García‐Verdugo, J. M., Leocani, L., Minicucci, F., et al. (2011) · Cell stem cell · doi:10.1016/j.stem.2011.09.008 · Cited by 255 · see citing works
Cognitive deficits in Tsc1+/−mice in the absence of cerebral lesions and seizures
Goorden, S. M. I., van Woerden, G. M., van der Weerd, L., Cheadle, J. P., & Elgersma, Y. (2007) · Annals of Neurology · doi:10.1002/ana.21317 · Cited by 247 · see citing works
mTOR: A pathogenic signaling pathway in developmental brain malformations
Crino, P. B. (2011) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2011.07.008 · Cited by 266 · see citing works
Buckmaster, P. S., & Lew, F. H. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.4852-10.2011 · Cited by 236 · see citing works
Meredith, R. M. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.12.001 · Cited by 237 · see citing works
Zeng, L.-H., Rensing, N. R., Zhang, B., Gutmann, D. H., Gambello, M. J., & Wong, M. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq491 · Cited by 231 · see citing works
Protein interactome reveals converging molecular pathways among autism disorders
Sakai, Y., Shaw, C. A., Dawson, B. C., Dugas, D. V., Al-Mohtaseb, Z., Hill, D. E., & Zoghbi, H. Y. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002166 · Cited by 226 · see citing works
Abnormal mTOR Activation in Autism
Winden, K. D., Ebrahimi‐Fakhari, D., & Şahin, M. (2018) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-080317-061747 · Cited by 222 · see citing works
Ribosomal Protein S6 Phosphorylation in the Nervous System: From Regulation to Function
Biever, A., Valjent, E., & Puighermanal, E. (2015) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2015.00075 · Cited by 214 · see citing works
Rapamycin for treating Tuberous Sclerosis and Autism Spectrum Disorders
Ehninger, D., & Silva, A. J. (2010) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2010.10.002 · Cited by 220 · see citing works
Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex
Numis, A. L., Major, P., Montenegro, M. A., Muzykewicz, D. A., Pulsifer, M. B., & Thiele, E. A. (2011) · Neurology · doi:10.1212/wnl.0b013e3182104347 · Cited by 214 · see citing works
Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse
Way, S. W., McKenna, J., Mietzsch, U., Reith, R. M., Wu, H. C., & Gambello, M. J. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp025 · Cited by 211 · see citing works
Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex
Liang, N., Zhang, C., Dill, P., Panasyuk, G., Pion, D., Koka, V., Gallazzini, M., Olson, E. N., Lam, H., Henske, E. P., et al. (2014) · Journal of Experimental Medicine · doi:10.1084/jem.20140341 · Cited by 205 · see citing works
Self-citationGenetically engineered human cortical spheroid models of tuberous sclerosis
Blair, J. D., Hockemeyer, D. F., & Bateup, H. S. (2018) · Nature Medicine · doi:10.1038/s41591-018-0139-y · Cited by 207 · see citing works
Loss of Tsc1 In Vivo Impairs Hippocampal mGluR-LTD and Increases Excitatory Synaptic Function
Bateup, H. S., Takasaki, K. T., Saulnier, J. L., Denefrio, C. L., & Sabatini, B. L. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.1617-11.2011 · Cited by 204 · see citing works
Advances in behavioral genetics: mouse models of autism
Moy, S. S., & Nadler, J. J. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4002082 · Cited by 197 · see citing works
Reversing Neurodevelopmental Disorders in Adults
Ehninger, D., Li, W., Fox, K., Stryker, M. P., & Silva, A. J. (2008) · Neuron · doi:10.1016/j.neuron.2008.12.007 · Cited by 196 · see citing works
Reith, R. M., McKenna, J., Wu, H. C., Hashmi, S. S., Cho, S., Dash, P. K., & Gambello, M. J. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2012.10.014 · Cited by 191 · see citing works
PTEN signaling in autism spectrum disorders
Zhou, J., & Parada, L. F. (2012) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2012.05.004 · Cited by 188 · see citing works
Balanced mTORC1 Activity in Oligodendrocytes Is Required for Accurate CNS Myelination
Lebrun-Julien, F., Bachmann, L., Norrmén, C., Trötzmüller, M., Köfeler, H., Rüegg, M., Hall, M., & Suter, U. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.1105-14.2014 · Cited by 174 · see citing works
Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy
Marsan, E., & Baulac, S. (2018) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12463 · Cited by 162 · see citing works
LaSarge, C. L., & Danzer, S. C. (2014) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2014.00018 · Cited by 193 · see citing works
Viral vectors for therapy of neurologic diseases
Choudhury, S. R., Hudry, E., Maguire, C. A., Sena-Esteves, M., Breakefield, X. O., & Grandi, P. (2017) · Neuropharmacology · doi:10.1016/j.neuropharm.2016.02.013 · Cited by 190 · see citing works
Critical Role for Hypothalamic mTOR Activity in Energy Balance
Mori, H., Inoki, K., Münzberg, H., Opland, D. M., Faouzi, M., Villanueva, E. C., Ikenoue, T., Kwiatkowski, D. J., MacDougald, O. A., Myers, M. G., et al. (2009) · Cell Metabolism · doi:10.1016/j.cmet.2009.03.005 · Cited by 188 · see citing works
Self-citationmTOR Signaling in Epilepsy: Insights from Malformations of Cortical DevelopmentPreprint
Crino, P. B. (2015) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a022442 · Cited by 184 · see citing works
Chronic Activation of mTOR Complex 1 Is Sufficient to Cause Hepatocellular Carcinoma in Mice
Menon, S., Yecies, J. L., Zhang, H., Howell, J. J., Nicholatos, J. W., Harputlugil, E., Bronson, R. T., Kwiatkowski, D. J., & Manning, B. D. (2012) · Science Signaling · doi:10.1126/scisignal.2002739 · Cited by 183 · see citing works
Self-citationWong, M. L. (2007) · Epilepsia · doi:10.1111/j.1528-1167.2007.01270.x · Cited by 182 · see citing works
Peters, J. M., Taquet, M., Vega, C., Jeste, S., Fernández, I. S., Tan, J., Nelson, C. A., Şahin, M., & Warfield, S. K. (2013) · BMC Medicine · doi:10.1186/1741-7015-11-54 · Cited by 181 · see citing works
Talos, D. M., Sun, H., Zhou, X., Fitzgerald, E. C., Jackson, M. C., Klein, P., Lan, V. J., Joseph, A., & Jensen, F. E. (2012) · PLoS ONE · doi:10.1371/journal.pone.0035885 · Cited by 182 · see citing works
Self-citationGoto, J., Talos, D. M., Klein, P., Qin, W., Chekaluk, Y. I., Anderl, S., Malinowska, I. A., Nardo, A. D., Bronson, R. T., Chan, J. A.-W., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1106454108 · Cited by 179 · see citing works
Self-citationProgress report on new antiepileptic drugs: A summary of the Twelfth Eilat Conference (EILAT XII)
Bialer, M., Johannessen, S. I., Levy, R. H., Perucca, E., Tomson, T., & White, H. S. (2015) · Epilepsy Research · doi:10.1016/j.eplepsyres.2015.01.001 · Cited by 174 · see citing works
Feliciano, D. M., Su, T. Y., López, J. M., Platel, J., & Bordey, A. (2011) · Journal of Clinical Investigation · doi:10.1172/jci44909 · Cited by 172 · see citing works
Translational Mouse Models of Autism: Advancing Toward Pharmacological Therapeutics
Kazdoba, T. M., Leach, P. T., Yang, M., Silverman, J. L., Solomon, M., & Crawley, J. N. (2015) · Current topics in behavioral neurosciences · doi:10.1007/7854_2015_5003 · Cited by 172 · see citing works
Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin
Carson, R. P., Van Nielen, D. L., Winzenburger, P. A., & Ess, K. C. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.08.024 · Cited by 165 · see citing works
Di Nardo, A., Kramvis, I., Cho, N., Sadowski, A., Meikle, L., Kwiatkowski, D. J., & Sahin, M. (2009) · The Journal of Neuroscience · doi:10.1523/jneurosci.0778-09.2009 · Cited by 165 · see citing works
Self-citationmTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis
Citraro, R., Leo, A., Constanti, A., Russo, E., & Sarro, G. D. (2016) · Pharmacological Research · doi:10.1016/j.phrs.2016.03.039 · Cited by 164 · see citing works
Behavioral profiles of mouse models for autism spectrum disorders
Ey, E., Leblond, C. S., & Bourgeron, T. (2011) · Autism Research · doi:10.1002/aur.175 · Cited by 158 · see citing works
Bøttger, P., Tracz‐Gaszewska, Z., Heuck, A., Nissen, P., Romero‐Ramos, M., & Lykke‐Hartmann, K. (2010) · The Journal of Comparative Neurology · doi:10.1002/cne.22524 · Cited by 160 · see citing works
Differential response of skeletal muscles to mTORC1 signaling during atrophy and hypertrophy
Bentzinger, C. F., Lin, S., Romanino, K., Castets, P., Guridi, M., Summermatter, S., Handschin, C., Tintignac, L. A., Hall, M. N., & Rüegg, M. A. (2013) · Skeletal Muscle · doi:10.1186/2044-5040-3-6 · Cited by 153 · see citing works
Hepatic mTORC1 controls locomotor activity, body temperature, and lipid metabolism through FGF21
Cornu, M., Oppliger, W., Albert, V., Robitaille, A. M., Trapani, F., Quagliata, L., Fuhrer, T., Sauer, U., Terracciano, L., & Hall, M. N. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1412047111 · Cited by 148 · see citing works
Biallelic <i>TSC</i> gene inactivation in tuberous sclerosis complex
Crino, P. B., Aronica, E., Baltuch, G., & Nathanson, K. L. (2010) · Neurology · doi:10.1212/wnl.0b013e3181e04325 · Cited by 153 · see citing works
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex
Salussolia, C. L., Klonowska, K., Kwiatkowski, D. J., & Sahin, M. (2019) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083118-015354 · Cited by 163 · see citing works
Self-citationBhandari, R., Paliwal, J. K., & Kuhad, A. (2020) · Advances in neurobiology · doi:10.1007/978-3-030-30402-7_4 · Cited by 156 · see citing works
Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex
Ebrahimi-Fakhari, D., Saffari, A., Wahlster, L., Di Nardo, A., Turner, D., Lewis, T. L., Conrad, C., Rothberg, J. M., Lipton, J. O., Kölker, S., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.09.054 · Cited by 146 · see citing works
Recent advances in neurobiology of Tuberous Sclerosis Complex
Napolioni, V., Moavero, R., & Curatolo, P. (2008) · Brain and Development · doi:10.1016/j.braindev.2008.09.013 · Cited by 147 · see citing works
Ozkan, E. D., Creson, T. K., Kramár, E. A., Rojas, C., Seese, R. R., Babyan, A. H., Shi, Y., Lucero, R., Xu, X., Noebels, J. L., et al. (2014) · Neuron · doi:10.1016/j.neuron.2014.05.015 · Cited by 137 · see citing works
Talos, D. M., Kwiatkowski, D. J., Cordero, K., Black, P. M., & Jensen, F. E. (2008) · Annals of Neurology · doi:10.1002/ana.21342 · Cited by 156 · see citing works
Self-citationEvolving neurobiology of tuberous sclerosis complex
Crino, P. B. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1085-x · Cited by 139 · see citing works
Behavioral and Neuroanatomical Phenotypes in Mouse Models of Autism
Ellegood, J., & Crawley, J. N. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0360-z · Cited by 132 · see citing works
Huang, W.-C., Chen, Y., & Page, D. T. (2016) · Nature Communications · doi:10.1038/ncomms13421 · Cited by 130 · see citing works
Mechanistic Target of Rapamycin (mTOR) in Tuberous Sclerosis Complex-Associated Epilepsy
Curatolo, P. (2014) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2014.10.028 · Cited by 132 · see citing works
Rheb1 Is Required for mTORC1 and Myelination in Postnatal Brain Development
Zou, J., Zhou, L., Du, X.-X., Ji, Y.-F., Xu, J., Tian, J., Jiang, W., Zou, Y., Yu, S., Gan, L., et al. (2011) · Developmental Cell · doi:10.1016/j.devcel.2010.11.020 · Cited by 127 · see citing works
Lozovaya, N., Gataullina, S., Tsintsadze, T. S., Tsintsadze, V., Pallesi‐Pocachard, E., Minlebaev, M., Goriounova, N. A., Buhler, E., Watrin, F., Shityakov, S., et al. (2014) · Nature Communications · doi:10.1038/ncomms5563 · Cited by 123 · see citing works
Role of the mTOR signaling pathway in epilepsy.
Meng, X.-F., Yu, J.-T., Song, J.-H., Chi, S., & Tan, L. (2013) · Journal of Neurological Sciences · doi:10.1016/j.jns.2013.05.029 · Cited by 117 · see citing works
Peters, J. M., Şahin, M., Vogel‐Farley, V. K., Jeste, S., Nelson, C. A., Gregas, M. C., Prabhu, S. P., Scherrer, B., & Warfield, S. K. (2011) · Academic Radiology · doi:10.1016/j.acra.2011.08.016 · Cited by 124 · see citing works
Weston, M. C., Chen, H., & Swann, J. W. (2014) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2014.00001 · Cited by 123 · see citing works
Role of Oligodendrocytes and Myelin in the Pathophysiology of Autism Spectrum Disorder
Gálvez‐Contreras, A. Y., Zárate-López, D., Torres-Chávez, A. L., & González-Pérez, Ó. (2020) · Brain Sciences · doi:10.3390/brainsci10120951 · Cited by 125 · see citing works
GABAergic Interneuron Development and Function Is Modulated by the Tsc1 Gene
Fu, C., Cawthon, B., Clinkscales, W. B., Bruce, A., Winzenburger, P. A., & Ess, K. C. (2011) · Cerebral Cortex · doi:10.1093/cercor/bhr300 · Cited by 123 · see citing works
Ehninger, D., De Vries, P. J., & Silva, A. J. (2009) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2009.01208.x · Cited by 120 · see citing works
Sunnen, C. N., Brewster, A. L., Lugo, J. N., Vanegas, F., Turcios, E., Mukhi, S., Parghi, D., D’Arcangelo, G., & Anderson, A. E. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2011.03280.x · Cited by 121 · 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
Curing epilepsy: Progress and future directions
Jacobs, M. P., Leblanc, G. G., Brooks‐Kayal, A. R., Jensen, F. E., Lowenstein, D. H., Noebels, J. L., Spencer, D. D., & Swann, J. W. (2009) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2009.02.036 · Cited by 121 · see citing works
Self-citationWeston, M. C., Chen, H., & Swann, J. W. (2012) · Journal of Neuroscience · doi:10.1523/jneurosci.1283-12.2012 · Cited by 121 · see citing works
Rakhade, S. N., Klein, P., Huynh, T., Hilario‐Gomez, C., Kosaras, B., Rotenberg, A., & Jensen, F. E. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2011.02992.x · Cited by 120 · see citing works
Self-citationCosta, V., Aigner, S., Vukcevic, M., Sauter, E. J., Behr, K., Ebeling, M., Dunkley, T. P. J., Friedlein, A., Zoffmann, S., Meyer, C. A., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.02.090 · Cited by 112 · see citing works
Sundberg, M., Tochitsky, I., Buchholz, D. E., Winden, K. D., Kujala, V. J., Kapur, K., Cataltepe, D., Turner, D., Han, M., Woolf, C. J., et al. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0018-4 · Cited by 120 · see citing works
Santini, E., & Klann, E. (2014) · Science Signaling · doi:10.1126/scisignal.2005832 · Cited by 118 · see citing works
Fetal Brain mTOR Signaling Activation in Tuberous Sclerosis Complex
Tsai, V., Parker, W. E., Orlova, K. A., Baybis, M., Chi, A. W. S., Berg, B. D., Birnbaum, J. F., Estevez, J., Okochi, K., Sarnat, H. B., et al. (2012) · Cerebral Cortex · doi:10.1093/cercor/bhs310 · Cited by 116 · see citing works
Malformations of Cortical Development
Aronica, E., Becker, A. J., & Spreafico, R. (2012) · Brain Pathology · doi:10.1111/j.1750-3639.2012.00581.x · Cited by 114 · see citing works
STRADα deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice
Orlova, K. A., Parker, W. E., Heuer, G. G., Tsai, V., Yoon, J. T., Baybis, M., Fenning, R. S., Strauss, K. A., & Crino, P. B. (2010) · Journal of Clinical Investigation · doi:10.1172/jci41592 · Cited by 112 · see citing works
Yuskaitis, C. J., Jones, B. M., Wolfson, R. L., Super, C. E., Dhamne, S., Rotenberg, A., Sabatini, D., Şahin, M., & Poduri, A. (2017) · Neurobiology of Disease · doi:10.1016/j.nbd.2017.12.010 · Cited by 92 · see citing works
Self-citationZhou, J., Shrikhande, G., Xu, J., McKay, R. M., Burns, D. K., Johnson, J. E. B., & Parada, L. F. (2011) · Genes & Development · doi:10.1101/gad.16750211 · Cited by 113 · see citing works
Drug discovery for autism spectrum disorder: challenges and opportunities
Ghosh, A., Michalon, A., Lindemann, L., Fontoura, P., & Santarelli, L. (2013) · Nature Reviews Drug Discovery · doi:10.1038/nrd4102 · Cited by 108 · see citing works
Ruppe, V., Dilsiz, P., Reiss, C. S., Carlson, C., Devinsky, O., Zagzag, D., Weiner, H. L., & Talos, D. M. (2014) · Epilepsia · doi:10.1111/epi.12545 · Cited by 108 · see citing works
Self-citationKassai, H., Sugaya, Y., Noda, S., Nakao, K., Maeda, T., Kano, M., & Aiba, A. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.04.048 · Cited by 107 · see citing works
TSC1/TSC2 signaling in the CNS
Han, J. M., & Sahin, M. (2011) · FEBS Letters · doi:10.1016/j.febslet.2011.02.001 · Cited by 105 · see citing works
Chapleau, C. A., Larimore, J. L., Theibert, A. B., & Pozzo‐Miller, L. D. (2009) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-009-9027-6 · Cited by 104 · see citing works
New directions in clinical imaging of cortical dysplasias
Madan, N., & Grant, P. E. (2009) · Epilepsia · doi:10.1111/j.1528-1167.2009.02292.x · Cited by 104 · see citing works
Depdc5 knockout rat: A novel model of mTORopathy.
Marsan, E., Ishida, S., Schramm, A. E., Weckhuysen, S., Muraca, G., Lecas, S., Liang, N., Treins, C., Pende, M., Roussel, D., et al. (2016) · Neurobiology of Disease · doi:10.1016/j.nbd.2016.02.010 · Cited by 95 · see citing works
Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex
Ercan-Herbst, E., Han, J. M., Nardo, A. D., Winden, K. D., Han, M., Hoyo, L., Saffari, A., Leask, A., Geschwind, D. H., & Şahin, M. (2017) · The Journal of Experimental Medicine · doi:10.1084/jem.20160446 · Cited by 99 · see citing works
Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment
Inoki, K., & Guan, K. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp032 · Cited by 98 · see citing works
Focal malformations of cortical development: New vistas for molecular pathogenesis
Lim, K., & Crino, P. B. (2013) · Neuroscience · doi:10.1016/j.neuroscience.2013.07.037 · Cited by 95 · see citing works
Neural Mechanisms Underlying Repetitive Behaviors in Rodent Models of Autism Spectrum Disorders
Gandhi, T., & Lee, C. C. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2020.592710 · Cited by 94 · see citing works
- Authors
- Meikle, L., Talos, D. M., Onda, H., Pollizzi, K., Rotenberg, A., Sahin, M., Jensen, F. E., & Kwiatkowski, D. J.
- Affiliations
- Brigham and Women's Hospital (US)
- Boston Children's Hospital (US)
- Corresponding author
- Jensen, Frances E.
- Venue
- The Journal of Neuroscience
- Publisher
- Society for Neuroscience
- Published
- 2007-05-23
- Volume
- 27
- Issue
- 21
- Pages
- 5546-5558
- ISSN
- 0270-6474 (ISSN-L)
- 1529-2401
- PMC
- PMC6672762
- OpenAlex
- W2024191529
- Cited by
- 462
- References
- 68
- Citations by year
- 2026: 9 · 2025: 17 · 2024: 14 · 2023: 14 · 2022: 20 · 2021: 27 · 2020: 23 · 2019: 22 · 2018: 29 · 2017: 23 · 2016: 25 · 2015: 37 · 2014: 31 · 2013: 35 · 2012: 50
- FWCI
- 12.30
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Neuroscience (publishedVersion, cc-by-nc-sa)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Tuberous Sclerosis Alliance
- National Institutes of Health (DP1OD003347, NS31718, NS24279)
- National Institute of Neurological Disorders and Stroke (NS31718, R01NS031718, R56NS031718, P01NS024279, NS 24279)
- Topics
- Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › PI3K/AKT/mTOR signaling in cancer
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Keywords
- tuberous sclerosis complex, TSC1, TSC2, mouse model, cortical tubers, neuronal loss, ectopic neurons, seizures, hippocampus, phospho-S6, neuronal development, survival
- MeSH terms
- Tuberous Sclerosis Complex 1 Protein, Animals, Demyelinating Diseases, Disease Models, Animal, Female, Male, Mice, Inbred CBA, Mice, Inbred C57BL, Mice, Transgenic, Neurons, Seizures, Tuberous Sclerosis, Survival Rate, Tumor Suppressor Proteins, Mice
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
