Neuropathology of tuberous sclerosis

Identification of the Tuberous Sclerosis Gene <i>TSC1</i> on Chromosome 9q34

Slegtenhorst, M. V., Hoogt, R. D., Hermans, C., Nellist, M., Janssen, B., Verhoef, S., Lindhout, D., Ouweland, A. V. D., Halley, D., Young, J., et al. (1997) · Science · doi:10.1126/science.277.5327.805 · Cited by 1,648 · see citing works

Identification and characterization of the tuberous sclerosis gene on chromosome 16

(1993) · Cell · doi:10.1016/0092-8674(93)90618-z · Cited by 1,645 · see citing works

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

van Slegtenhorst, M. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.6.1053 · Cited by 565 · see citing works

Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis

Jones, A. C., Shyamsundar, M. M., Thomas, M. W., Maynard, J. H., Idziaszczyk, S., Tomkins, S. E., Sampson, J. R., & Cheadle, J. P. (1999) · The American Journal of Human Genetics · doi:10.1086/302381 · Cited by 527 · see citing works

EVIDENCE THAT THE GENE FOR TUBEROUS SCLEROSIS IS ON CHROMOSOME 9

Fryer, A. E., Connor, J. M., Povey, S., et al. (1987) · The Lancet · doi:10.1016/s0140-6736(87)90416-8 · Cited by 514 · see citing works

Tsc2+/– mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background

Onda, H., Lueck, A., Marks, P. W., Warren, H. B., & Kwiatkowski, D. J. (1999) · Journal of Clinical Investigation · doi:10.1172/jci7319 · Cited by 391 · see citing works

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients

Green, A., Smith, M., & Yates, J. R. W. (1994) · Nature Genetics · doi:10.1038/ng0294-193 · Cited by 367 · see citing works

Identification of Tuberin, the Tuberous Sclerosis-2 Product. TUBERIN POSSESSES SPECIFIC Rap1GAP ACTIVITY

Wienecke, R., König, A., & DeClue, J. E. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.27.16409 · Cited by 357 · see citing works

The Tuberous Sclerosis 2 Gene Product, Tuberin, Functions as a Rab5 GTPase Activating Protein (GAP) in Modulating Endocytosis

Xiao, G., Shoarinejad, F., Jin, F., Golemis, E. A., & Yeung, R. S. W. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.10.6097 · Cited by 348 · see citing works

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease

Kandt, R. S., Haines, J. L., Smith, M., Northrup, H., Gardner, R. J. M., Short, M. P., Dumars, K., Roach, E. S., Steingold, S., Wall, S. A., et al. (1992) · Nature Genetics · doi:10.1038/ng0992-37 · Cited by 335 · 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

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.

Henske, E. P., Scheithauer, B. W., Short, M. P., Wollmann, R. L., Nahmias, J. A., Hornigold, N., van Slegtenhorst, M., Welsh, C., & Kwiatkowski, D. J. (1996) · PubMed Central · Cited by 324 · see citing works

A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer

Kobayashi, T., Hirayama, Y., Kobayashi, E., Kubo, Y., & Hino, O. (1995) · Nature Genetics · doi:10.1038/ng0195-70 · Cited by 303 · see citing works

Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line Tsc2 mutation in mice.

Kobayashi, T., Minowa, O., Kuno, J., Mitani, H., Hino, O., & Noda, T. (1999) · PubMed · Cited by 275 · see citing works

Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13

Povey, S., Burley, M., ATTWOOD, J., Benham, F., Hunt, D. M., Jeremiah, S. J., FRANKLIN, D., Gillett, G. T., Malas, S., Robson, E. B., et al. (1994) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1994.tb01881.x · Cited by 261 · see citing works

Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles.

Plank, T. L., Yeung, R. S. W., & Henske, E. P. (1998) · PubMed · Cited by 251 · see citing works

AUTISTIC BEHAVIOUR AND ATTENTION DEFICITS IN TUBEROUS SCLEROSIS: A POPULATION‐BASED STUDY

Gillberg, J. C., Gillberg, C., & Ahlsén, G. (1994) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1994.tb11765.x · Cited by 219 · see citing works

Role of the Tuberous Sclerosis Gene-2 Product in Cell Cycle Control

Soucek, T., Pusch, O., Wienecke, R., DeClue, J. E., & Hengstschläger, M. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.46.29301 · Cited by 191 · see citing works

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor

Green, A., Johnson, P. H., & Yates, J. R. W. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.10.1833 · Cited by 188 · see citing works

Characterization of the Cytosolic Tuberin-Hamartin Complex

Nellist, M. D., van Slegtenhorst, M. A., Goedbloed, M., van den Ouweland, A. M. W., Halley, D. J. J., & van der Sluijs, P. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.50.35647 · Cited by 176 · see citing works

Tuberous Sclerosis Complex

(1999) · doi:10.1093/oso/9780195122107.001.0001 · Cited by 175 · see citing works

A Dominant Gene for Renal Adenomas in the Rat

Eker, R., & MOSSIGE, J. C. (1961) · Nature · doi:10.1038/189858b0 · Cited by 154 · see citing works

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene

Carbonara, C., Longa, L., Grosso, E., et al. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.10.1829 · Cited by 145 · 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

The pathology of tuberous sclerosis.

Bender, B. L., & Yunis, E. J. (1982) · PubMed · Cited by 88 · see citing works

Novel Cerebral Lesions in the Eker Rat Model of Tuberous Sclerosis: Cortical Tuber and Anaplastic Ganglioglioma

Mizuguchi, M., Takashima, S., Yamanouchi, H., et al. (2000) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/59.3.188 · Cited by 75 · see citing works

Expression of the TSC2 product tuberin and its target Rap1 in normal human tissues.

Wienecke, R., Maize, J. C., Reed, J. A., et al. (1997) · PubMed · Cited by 72 · see citing works

Co‐Localization of TSC1 and TSC2 Gene Products in Tubers of Patients with Tuberous Sclerosis

Johnson, M. W., Emelin, J. K., Park, S., & Vinters, H. V. (1999) · Brain Pathology · doi:10.1111/j.1750-3639.1999.tb00209.x · Cited by 72 · see citing works

A role of the tuberous sclerosis gene-2 product during neuronal differentiation

Soucek, T., Hölzl, G., BERNASCHEK, G., et al. (1998) · Oncogene · doi:10.1038/sj.onc.1201743 · Cited by 71 · see citing works

The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas.

Plank, T. L., Logginidou, H., Klein–Szanto, A. J., & Henske, E. P. (1999) · PubMed · Cited by 69 · see citing works

Pathology of Tuberous Sclerosis

Richardson, E. P. (1991) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1991.tb37755.x · Cited by 67 · see citing works

Localization of Tuberous Sclerosis 2 mRNA and its Protein Product Tuberin in Normal Human Brain and in Cerebral Lesions of Patients with Tuberous Sclerosis

Kerfoot, C. A., Wienecke, R., Menchine, M. D., Emelin, J. K., Maize, J. C., Welsh, C. T., Norman, M. G., DeClue, J. E., & Vinters, H. V. (1996) · Brain Pathology · doi:10.1111/j.1750-3639.1996.tb00866.x · Cited by 60 · see citing works

Central Nervous System Pathology of Tuberous Sclerosis in Children

Bender, B. L., & Yunis, E. J. (1980) · Ultrastructural Pathology · doi:10.3109/01913128009141432 · Cited by 57 · see citing works

Evidence of abnormal differentiation in giant cells of tuberous sclerosis

Yamanouchi, H., Jay, V., Rutka, J. T., Takashima, S., & Becker, L. E. (1997) · Pediatric Neurology · doi:10.1016/s0887-8994(97)00036-2 · Cited by 56 · see citing works

Phenotypic variation of tuberous sclerosis in a single extended kindred.

Smalley, S. L., Burger, F., & Smith, M. (1994) · Journal of Medical Genetics · doi:10.1136/jmg.31.10.761 · Cited by 55 · see citing works

Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma

Mizuguchi, M., Kato, M., Yamanouchi, H., et al. (1996) · Annals of Neurology · doi:10.1002/ana.410400621 · Cited by 49 · see citing works

Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex

Zhang, H., Nanba, E., Yamamoto, T., et al. (1999) · Journal of Human Genetics · doi:10.1007/s100380050185 · Cited by 42 · see citing works

Tuberin immunohistochemistry in brain, kidneys and heart with or without tuberous sclerosis

Mizuguchi, M., Kato, M., Yamanouchi, H., et al. (1997) · Acta Neuropathologica · doi:10.1007/s004010050746 · Cited by 42 · see citing works

Tissue and cell-type specific expression of the tuberous sclerosis gene, TSC2, in human tissues.

Menchine, M. D., Emelin, J. K., Mischel, P. S., et al. (1996) · PubMed · Cited by 40 · see citing works

Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis

Mizuguchi, M., Ikeda, K., & Takashima, S. (2000) · Acta Neuropathologica · doi:10.1007/s004010051152 · Cited by 39 · see citing works

HMB-45 and tuberin in hamartomas associated with tuberous sclerosis.

Kimura, N., Watanabe, M., Date, F., et al. (1997) · PubMed · Cited by 28 · see citing works

Definition and Criteria for Diagnosis

Gómez (1999) · Medical Entomology and Zoology · Cited by 20 · see citing works

Loss of the TSC2 product tuberin in subependymal giant-cell tumors

Arai, Y., Ackerley, C. A., & Becker, L. E. (1999) · Acta Neuropathologica · doi:10.1007/s004010051074 · Cited by 18 · see citing works

Giant cells in cortical tubers in tuberous sclerosis showing synaptophysin-immunoreactive halos

Yamanouchia, H., Ho, M. Y., Jay, V., et al. (1997) · Brain and Development · doi:10.1016/s0387-7604(96)00079-4 · Cited by 15 · see citing works

Phacomatosis in Japan : epidemiology, clinical picture, and molecular biology

新村眞人, 大塚, 藤., & 樋野, 興. (1999) · Japan Scientific Societies Press , Karger eBooks · Cited by 4 · see citing works

NEUROLOGICAL ASPECTS OF TUBEROUS SCLEROSIS

Mizuguchi, M., Yamanouchi, H., & Takashima, S. (1999) · Gann monograph on cancer research · Cited by 3 · see citing works

The Tuberous Sclerosis Complex

Crino, P. B., Nathanson, K. L., & Henske, E. P. (2006) · New England Journal of Medicine · doi:10.1056/nejmra055323 · Cited by 1,793 · 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

mTOR Signaling in Disease

Dazert, E., & Hall, M. N. (2011) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2011.09.003 · Cited by 460 · see citing works

The Emerging Picture of Autism Spectrum Disorder: Genetics and Pathology

Chen, J. A., Peñagarikano, O., Belgard, T. G., Swarup, V., & Geschwind, D. H. (2015) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-012414-040405 · Cited by 254 · 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

Amplification of human interneuron progenitors promotes brain tumors and neurological defects

Eichmüller, O. L., Corsini, N. S., Vértesy, Á., Morassut, I., Scholl, T., Gruber, V.-E., Peer, A. M., Chu, J., Novatchkova, M., Hainfellner, J. A., et al. (2022) · Science · doi:10.1126/science.abf5546 · Cited by 163 · see citing works

Gene Expression Analysis of Tuberous Sclerosis Complex Cortical Tubers Reveals Increased Expression of Adhesion and Inflammatory Factors

Boer, K., Crino, P. B., Gorter, J. A., Nellist, M., Jansen, F. E., Spliet, W. G. M., Van Rijen, P. C., Wittink, F. R. A., Breit, T. M., Troost, D., et al. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2009.00341.x · Cited by 148 · see citing works

Tuberous Sclerosis Complex as Disease Model for Investigating mTOR-Related Gliopathy During Epileptogenesis

Zimmer, T. S., Broekaart, D. W. M., Gruber, V.-E., van Vliet, E. A., Mühlebner, A., & Aronica, E. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.01028 · Cited by 48 · see citing works

First descriptions of tuberous sclerosis by Désiré‐Magloire Bourneville (1840–1909)

Brigo, F., Lattanzi, S., Trinka, E., Nardone, R., Bragazzi, N. L., Ruggieri, M., Martini, M., & Walusinski, O. (2018) · Neuropathology · doi:10.1111/neup.12515 · Cited by 25 · see citing works

mTORC1 drives cell-autonomous astrocyte reactivity in tuberous sclerosis

Li, T. L., Blair, J. D., Yoo, T., Grant, G. A., Hockemeyer, D., Porter, B. E., & Bateup, H. S. (2026) · Nature · doi:10.1038/s41586-026-11054-w · Cited by 1 · see citing works

Immunohistochemical and microscopic studies on giant cells in tuberous sclerosis.

Jóźwiak, J., Jóźwiak, S., & Skopiński, P. (2005) · PubMed · doi:10.14670/hh-20.1321 · Cited by 26 · see citing works

Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex:

Wheless, J. W., & Klimo, P. D. (2013) · Journal of Child Neurology · doi:10.1177/0883073813501870 · Cited by 24 · see citing works

Pathogenesis of Tuberous Sclerosis Subependymal Giant Cell Astrocytomas: Biallelic Inactivation ofTSC1orTSC2Leads to mTOR Activation

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

Brain Abnormalities in Tuberous Sclerosis Complex

DiMario, F. J. (2004) · Journal of Child Neurology · doi:10.1177/08830738040190090401 · Cited by 165 · see citing works

Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex – Pharmacological Treatment using mTOR Inhibitors

Zitterbart, K. (2014) · Klinicka onkologie · doi:10.14735/amko2014401 · Cited by 2 · see citing works