메뉴 건너뛰기




Volumn 12, Issue 3, 2012, Pages 294-301

Molecular therapies for tuberous sclerosis and neurofibromatosis

Author keywords

Everolimus Molecular therapies; MTOR inhibition; Neurofibromatosis; Rapamycin; Tuberous sclerosis complex

Indexed keywords

EVEROLIMUS; HAMARTIN; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 1; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 2; MAMMALIAN TARGET OF RAPAMYCIN INHIBITOR; NEUROFIBROMIN; RAPAMYCIN; TUBERIN;

EID: 84861229141     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-012-0269-4     Document Type: Review
Times cited : (38)

References (90)
  • 1
    • 30444437486 scopus 로고    scopus 로고
    • Treatment of acute lymphoblastic leukemia
    • DOI 10.1056/NEJMra052603
    • Pui CH, Evans WE. Treatment of acute lymphoblastic leukemia. N Engl J Med. 2006;354(2):166-78. (Pubitemid 43076714)
    • (2006) New England Journal of Medicine , vol.354 , Issue.2 , pp. 166-178
    • Pui, C.-H.1    Evans, W.E.2
  • 2
    • 0034525989 scopus 로고    scopus 로고
    • Children's cancer group trials in childhood acute lymphoblastic leukemia: 1983-1995
    • DOI 10.1038/sj.leu.2401939
    • Gaynon PS, Trigg ME, Heerema NA, Sensel MG, Sather HN, Hammond GD, et al. Children's Cancer Group trials in childhood acute lymphoblastic leukemia: 1983-1995. Leukemia. 2000;14 (12):2223-33. (Pubitemid 32042263)
    • (2000) Leukemia , vol.14 , Issue.12 , pp. 2223-2233
    • Gaynon, P.S.1    Trigg, M.E.2    Heerema, N.A.3    Sensel, M.G.4    Sather, H.N.5    Hammond, G.D.6    Bleyer, W.A.7
  • 3
    • 84861227040 scopus 로고    scopus 로고
    • Increased survival of children with solid tumours: How did we get there and how to keep the success going?
    • Rechnitzer C. Increased survival of children with solid tumours: how did we get there and how to keep the success going? Canc Imag. 2011;11:865-9.
    • (2011) Canc Imag , vol.11 , pp. 865-869
    • Rechnitzer, C.1
  • 5
    • 0033944214 scopus 로고    scopus 로고
    • The role of the preBCR, the interleukin-7 receptor, and homotypic interactions during B-cell development
    • DOI 10.1034/j.1600-065X.2000.017511.x
    • Stoddart A, Fleming HE, Paige CJ. The role of the preBCR, the interleukin-7 receptor, and homotypic interactions during B-cell development. Immunol Rev. 2000;175:47-58. (Pubitemid 30427155)
    • (2000) Immunological Reviews , vol.175 , pp. 47-58
    • Stoddart, A.1    Fleming, H.E.2    Paige, C.J.3
  • 7
    • 16844375160 scopus 로고    scopus 로고
    • Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1-associated human and mouse brain tumors
    • DOI 10.1158/0008-5472.CAN-04-4058
    • Dasgupta B, Yi Y, Chen DY, Weber JD, Gutmann DH. Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1-associated human and mouse brain tumors. Cancer Res. 2005;65(7):2755-60. (Pubitemid 40490077)
    • (2005) Cancer Research , vol.65 , Issue.7 , pp. 2755-2760
    • Dasgupta, B.1    Yi, Y.2    Chen, D.Y.3    Weber, J.D.4    Gutmann, D.H.5
  • 9
    • 0036632368 scopus 로고    scopus 로고
    • The phosphatidylinositol 3-kinase-AKT pathway in human cancer
    • Vivanco I, Sawyers CL. The phosphatidylinositol 3-Kinase AKT pathway in human cancer. Nat Rev Cancer. 2002;2(7):489-501. (Pubitemid 37328931)
    • (2002) Nature Reviews Cancer , vol.2 , Issue.7 , pp. 489-501
    • Vivanco, I.1    Sawyers, C.L.2
  • 10
    • 65949088837 scopus 로고    scopus 로고
    • Dual inhibition of class IA phosphatidylinositol 3-kinase and mammalian target of rapamycin as a new therapeutic option for T-cell acute lymphoblastic leukemia
    • Chiarini F, Fala F, Tazzari PL, Ricci F, Astolfi A, Pession A, et al. Dual inhibition of class IA phosphatidylinositol 3-kinase and mammalian target of rapamycin as a new therapeutic option for T-cell acute lymphoblastic leukemia. Cancer Res. 2009;69 (8):3520-8.
    • (2009) Cancer Res , vol.69 , Issue.8 , pp. 3520-3528
    • Chiarini, F.1    Fala, F.2    Tazzari, P.L.3    Ricci, F.4    Astolfi, A.5    Pession, A.6
  • 12
    • 2342559981 scopus 로고    scopus 로고
    • The TOR pathway: A target for cancer therapy
    • Bjornsti MA, Houghton PJ. The TOR pathway: a target for cancer therapy. Nat Rev Cancer. 2004;4(5):335-48. (Pubitemid 38579480)
    • (2004) Nature Reviews Cancer , vol.4 , Issue.5 , pp. 335-348
    • Bjornsti, M.-A.1    Houghton, P.J.2
  • 13
    • 34047095297 scopus 로고    scopus 로고
    • The two TORCs and Akt
    • DOI 10.1016/j.devcel.2007.03.020, PII S1534580707001207
    • Bhaskar PT, Hay N. The two TORCs and Akt. Developmental Cell. 2007;12(4):487-502. (Pubitemid 46523652)
    • (2007) Developmental Cell , vol.12 , Issue.4 , pp. 487-502
    • Bhaskar, P.T.1    Hay, N.2
  • 14
    • 13844312400 scopus 로고    scopus 로고
    • Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex
    • DOI 10.1126/science.1106148
    • Sarbassov DD, Guertin DA, Ali SM, Sabatini DM. Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex. Science. 2005;307(5712):1098- 101. (Pubitemid 40262113)
    • (2005) Science , vol.307 , Issue.5712 , pp. 1098-1101
    • Sarbassov, D.D.1    Guertin, D.A.2    Ali, S.M.3    Sabatini, D.M.4
  • 15
    • 0033674591 scopus 로고    scopus 로고
    • Malignancy in neurofibromatosis type 1
    • Korf BR. Malignancy in neurofibromatosis type 1. Oncologist. 2000;5(6):477-85.
    • (2000) Oncologist , vol.5 , Issue.6 , pp. 477-485
    • Korf, B.R.1
  • 16
    • 0034081412 scopus 로고    scopus 로고
    • Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
    • DOI 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N
    • Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van RN, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat. 2000;15 (6):541-55. (Pubitemid 30368440)
    • (2000) Human Mutation , vol.15 , Issue.6 , pp. 541-555
    • Messiaen, L.M.1    Callens, T.2    Mortier, G.3    Beysen, D.4    Vandenbroucke, I.5    Van Roy, N.6    Speleman, F.7    De Paepe, A.8
  • 17
    • 0023652654 scopus 로고
    • US Department of Health and Human Services, National Institutes of Health. NIH Consens Statement Online Jul 13-15
    • US Department of Health and Human Services, National Institutes of Health. Neurofibromatosis. NIH Consens Statement Online 1987 Jul 13-15;6(12):1-19.
    • (1987) Neurofibromatosis , vol.6 , Issue.12 , pp. 1-19
  • 19
    • 33644667931 scopus 로고    scopus 로고
    • Pediatric malignant peripheral nerve sheath tumor: The Italian and German soft tissue sarcoma cooperative group
    • Carli M, Ferrari A, Mattke A, et al. Pediatric malignant peripheral nerve sheath tumor: The Italian and German soft tissue sarcoma cooperative group. J Clin Oncol. 2005;23:8422-30.
    • (2005) J Clin Oncol , vol.23 , pp. 8422-8430
    • Carli, M.1    Ferrari, A.2    Mattke, A.3
  • 22
    • 0024205878 scopus 로고
    • Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales
    • Huson SM, Harper PS, Compston DA. Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain. 1988;111(Pt 6):1355-81. (Pubitemid 19028458)
    • (1988) Brain , vol.111 , Issue.6 , pp. 1355-1381
    • Huson, S.M.1    Harper, P.S.2    Compston, D.A.S.3
  • 24
    • 0035025409 scopus 로고    scopus 로고
    • Mortality in neurofibromatosis 1: An analysis using U.S. death certificates
    • DOI 10.1086/320121
    • Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001;68(5):1110-8. (Pubitemid 32424410)
    • (2001) American Journal of Human Genetics , vol.68 , Issue.5 , pp. 1110-1118
    • Rasmussen, S.A.1    Yang, Q.2    Friedman, J.M.3
  • 25
    • 3042793769 scopus 로고    scopus 로고
    • Automated detection and volume measurement of plexiform neurofibromas in neurofibromatosis 1 using magnetic resonance imaging
    • DOI 10.1016/j.compmedimag.2004.03.002, PII S0895611104000370
    • Solomon J, Warren K, Dombi E, et al. Automated detection and volume measurement of plexiform neurofibromas in neurofibromatosis 1 using magnetic resonance imaging. Comput Med Imag Graph. 2004;28:257-65. (Pubitemid 38891818)
    • (2004) Computerized Medical Imaging and Graphics , vol.28 , Issue.5 , pp. 257-265
    • Solomon, J.1    Warren, K.2    Dombi, E.3    Patronas, N.4    Widemann, B.5
  • 26
    • 0037435522 scopus 로고    scopus 로고
    • Phase I study of thalidomide for the treatment of plexiform neurofibroma in neurofibromatosis 1
    • Gupta A, Cohen BH, Ruggieri P, Packer RJ, Phillips PC. Phase I study of thalidomide for the treatment of plexiform neurofibroma in neurofibromatosis 1. Neurology. 2003;60(1):130-2. (Pubitemid 36070662)
    • (2003) Neurology , vol.60 , Issue.1 , pp. 130-132
    • Gupta, A.1    Cohen, B.H.2    Ruggieri, P.3    Packer, R.J.4    Phillips, P.C.5
  • 31
    • 78650987740 scopus 로고    scopus 로고
    • Tuberous sclerosis complex: Neurological, renal and pulmonary manifestations
    • Franz DN, Bissler JJ, McCormack FX. Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics. 2010;41(5):199-208.
    • (2010) Neuropediatrics , vol.41 , Issue.5 , pp. 199-208
    • Franz, D.N.1    Bissler, J.J.2    McCormack, F.X.3
  • 32
    • 48549098902 scopus 로고    scopus 로고
    • The pathogenesis and imaging of the tuberous sclerosis complex
    • Baskin Jr HJ. The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol. 2008;38(9):936-52.
    • (2008) Pediatr Radiol , vol.38 , Issue.9 , pp. 936-952
    • Baskin Jr., H.J.1
  • 36
    • 0032438210 scopus 로고    scopus 로고
    • Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria
    • Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998;13(12):624-8. (Pubitemid 29035481)
    • (1998) Journal of Child Neurology , vol.13 , Issue.12 , pp. 624-628
    • Roach, E.S.1    Gomez, M.R.2    Northrup, H.3
  • 37
    • 79956301399 scopus 로고    scopus 로고
    • Epithelioid angiomyolipoma: A morphologically distinct variant that mimics a variety of intraabdominal neoplasms
    • Mete O, van der Kwast TH. Epithelioid angiomyolipoma: a morphologically distinct variant that mimics a variety of intraabdominal neoplasms. Arch Pathol Lab Med. 2011;135(5):665-70.
    • (2011) Arch Pathol Lab Med , vol.135 , Issue.5 , pp. 665-670
    • Mete, O.1    Van Der Kwast, T.H.2
  • 39
    • 27744588780 scopus 로고    scopus 로고
    • Tuberous sclerosis: A GAP at the crossroads of multiple signaling pathways
    • DOI 10.1093/hmg/ddi260
    • Kwiatkowski DJ, Manning BD. Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Hum Mol Genet. 2005;14(2):R251-8. (Pubitemid 41631882)
    • (2005) Human Molecular Genetics , vol.14 , Issue.SUPPL. 2
    • Kwiatkowski, D.J.1    Manning, B.D.2
  • 40
    • 37549016789 scopus 로고    scopus 로고
    • Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation
    • Wong M. Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. Epilepsia. 2008;49(1):8-21.
    • (2008) Epilepsia , vol.49 , Issue.1 , pp. 8-21
    • Wong, M.1
  • 41
    • 58149250332 scopus 로고    scopus 로고
    • Are cortical tubers epileptogenic? Evidence from electrocorticography
    • Major P, Rakowski S, Simon MV, Cheng ML, Eskandar E, Baron J, et al. Are cortical tubers epileptogenic? Evidence from electrocorticography. Epilepsia. 2009;50(1):147-54.
    • (2009) Epilepsia , vol.50 , Issue.1 , pp. 147-154
    • Major, P.1    Rakowski, S.2    Simon, M.V.3    Cheng, M.L.4    Eskandar, E.5    Baron, J.6
  • 44
    • 7044245656 scopus 로고    scopus 로고
    • Subependymal giant cell tumors in tuberous sclerosis complex
    • Goh S, Butler W, Thiele EA. Subependymal giant cell tumors in tuberous sclerosis complex. Neurology. 2004;63(8):1457-61. (Pubitemid 39426281)
    • (2004) Neurology , vol.63 , Issue.8 , pp. 1457-1461
    • Goh, S.1    Butler, W.2    Thiele, E.A.3
  • 45
    • 65449177228 scopus 로고    scopus 로고
    • Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature
    • Adriaensen ME, Schaefer-Prokop CM, Stijnen T, Duyndam DA, Zonnenberg BA, Prokop M. Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature. Eur J Neurol. 2009;16(6):691-6.
    • (2009) Eur J Neurol , vol.16 , Issue.6 , pp. 691-696
    • Adriaensen, M.E.1    Schaefer-Prokop, C.M.2    Stijnen, T.3    Duyndam, D.A.4    Zonnenberg, B.A.5    Prokop, M.6
  • 46
    • 8844240684 scopus 로고    scopus 로고
    • Behavioral and cognitive aspects of tuberous sclerosis complex
    • Prather P, de Vries PJ. Behavioral and cognitive aspects of tuberous sclerosis complex. J Child Neurol. 2004;19(9):666-74. (Pubitemid 39530075)
    • (2004) Journal of Child Neurology , vol.19 , Issue.9 , pp. 666-674
    • Prather, P.1    De Vries, P.J.2
  • 47
    • 8844285191 scopus 로고    scopus 로고
    • Managing epilepsy in tuberous sclerosis complex
    • Thiele EA. Managing epilepsy in tuberous sclerosis complex. J Child Neurol. 2004;19(9):680-6. (Pubitemid 39530077)
    • (2004) Journal of Child Neurology , vol.19 , Issue.9 , pp. 680-686
    • Thiele, E.A.1
  • 48
    • 70449714191 scopus 로고    scopus 로고
    • Current trends in the treatment of infantile spasms
    • Tsao CY. Current trends in the treatment of infantile spasms. Neuropsychiatric Diseases and Treatment. 2009;5:289-99.
    • (2009) Neuropsychiatric Diseases and Treatment , vol.5 , pp. 289-299
    • Tsao, C.Y.1
  • 49
    • 70350412265 scopus 로고    scopus 로고
    • From mTOR to cognition: Molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis
    • Ehninger D, de Vries PJ, Silva AJ. From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis. J Intellect Disabil Res. 2009;53(10):838-51.
    • (2009) J Intellect Disabil Res , vol.53 , Issue.10 , pp. 838-851
    • Ehninger, D.1    De Vries, P.J.2    Silva, A.J.3
  • 50
    • 74949121901 scopus 로고    scopus 로고
    • Attention-deficit hyperactivity disorder (ADHD) and tuberous sclerosis complex
    • D'Agati E, Moavero R, Cerminara C, Curatolo P. Attention-deficit hyperactivity disorder (ADHD) and tuberous sclerosis complex. J Child Neurol. 2009;24(10):1282-7.
    • (2009) J Child Neurol , vol.24 , Issue.10 , pp. 1282-1287
    • D'Agati, E.1    Moavero, R.2    Cerminara, C.3    Curatolo, P.4
  • 51
    • 33846083243 scopus 로고    scopus 로고
    • Cognitive prognosis of patients with tuberous sclerosis complex
    • DOI 10.1212/01.wnl.0000250330.44291.54, PII 0000611420070102000018
    • Winterkorn EB, Pulsifer MB, Thiele EA. Cognitive prognosis of patients with tuberous sclerosis complex.Neurology. 2007;68(1):62-4. (Pubitemid 46058555)
    • (2007) Neurology , vol.68 , Issue.1 , pp. 62-64
    • Winterkorn, E.B.1    Pulsifer, M.B.2    Thiele, E.A.3
  • 52
    • 33748780944 scopus 로고    scopus 로고
    • Lymphangioleiomyomatosis
    • DOI 10.1183/09031936.06.00113303
    • Johnson SR. Lymphangioleiomyomatosis. Eur Respir J. 2006;27 (5):1056-65. (Pubitemid 44911122)
    • (2006) European Respiratory Journal , vol.27 , Issue.5 , pp. 1056-1065
    • Johnson, S.R.1
  • 53
    • 33749068243 scopus 로고    scopus 로고
    • Tuberous sclerosis
    • DOI 10.1038/sj.ejhg.5201625, PII 5201625
    • Yates JR. Tuberous sclerosis. Eur J Hum Genet. 2006;14 (10):1065-73. (Pubitemid 44463964)
    • (2006) European Journal of Human Genetics , vol.14 , Issue.10 , pp. 1065-1073
    • Yates, J.R.W.1
  • 54
    • 8844236164 scopus 로고    scopus 로고
    • Non-neurologic manifestations of tuberous sclerosis complex
    • Franz DN. Non-neurologic manifestations of tuberous sclerosis complex. J Child Neurol. 2004;19(9):690-8. (Pubitemid 39530079)
    • (2004) Journal of Child Neurology , vol.19 , Issue.9 , pp. 690-698
    • Franz, D.N.1
  • 55
    • 72149109544 scopus 로고    scopus 로고
    • Angiomyolipomata: Challenges, solutions, and future prospects based on over 100 cases treated
    • Sooriakumaran P, Gibbs P, Coughlin G, Attard V, Elmslie F, Kingswood C, et al. Angiomyolipomata: challenges, solutions, and future prospects based on over 100 cases treated. BJU Int. 2010;105(1):101-6.
    • (2010) BJU Int , vol.105 , Issue.1 , pp. 101-106
    • Sooriakumaran, P.1    Gibbs, P.2    Coughlin, G.3    Attard, V.4    Elmslie, F.5    Kingswood, C.6
  • 56
    • 39449100827 scopus 로고    scopus 로고
    • Lymphangioleiomyomatosis: A clinical update
    • DOI 10.1378/chest.07-0898
    • McCormack FX. Lymphangioleiomyomatosis: a clinical update. Chest. 2008;133(2):507-16. (Pubitemid 351272412)
    • (2008) Chest , vol.133 , Issue.2 , pp. 507-516
    • McCormack, F.X.1
  • 57
    • 33644689608 scopus 로고    scopus 로고
    • Molecular activity of sirolimus and its possible application in tuberous sclerosis treatment
    • DOI 10.1002/med.20049
    • Jozwiak J, Jozwiak S, Oldak M. Molecular activity of sirolimus and its possible application in tuberous sclerosis treatment. Med Res Rev. 2006;26(2):160-80. (Pubitemid 43334640)
    • (2006) Medicinal Research Reviews , vol.26 , Issue.2 , pp. 160-180
    • Jozwiak, J.1    Jozwiak, S.2    Oldak, M.3
  • 58
    • 70449428027 scopus 로고    scopus 로고
    • Perinatal (fetal and neonatal) tuberous sclerosis: A review
    • Isaacs H. Perinatal (fetal and neonatal) tuberous sclerosis: a review. Am J Perinatol. 2009;26(10):755-60.
    • (2009) Am J Perinatol , vol.26 , Issue.10 , pp. 755-760
    • Isaacs, H.1
  • 60
    • 60849130177 scopus 로고    scopus 로고
    • Genetics and molecular biology of tuberous sclerosis complex
    • Napolioni V, Curatolo P. Genetics and molecular biology of tuberous sclerosis complex. Curr Genom. 2008;9(7):475-87.
    • (2008) Curr Genom , vol.9 , Issue.7 , pp. 475-487
    • Napolioni, V.1    Curatolo, P.2
  • 63
    • 34547168930 scopus 로고    scopus 로고
    • The tuberous sclerosis complex proteins - A GRIPP on cognition and neurodevelopment
    • DOI 10.1016/j.molmed.2007.06.003, PII S1471491407001086
    • de Vries PJ, Howe CJ. The tuberous sclerosis complex proteins: a GRIPP on cognition and neurodevelopment. Trends Mol Med. 2007;13(8):319-26. (Pubitemid 47126986)
    • (2007) Trends in Molecular Medicine , vol.13 , Issue.8 , pp. 319-326
    • De Vries, P.J.1    Howe, C.J.2
  • 65
    • 34250626014 scopus 로고    scopus 로고
    • A mouse model of tuberous sclerosis: Neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival
    • DOI 10.1523/JNEUROSCI.5540-06.2007
    • Meikle L, Talos DM, Onda H, Pollizzi K, Rotenberg A, Sahin M, et al.Amousemodel of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. J Neurosci. 2007;27(21):5546-58. (Pubitemid 350021088)
    • (2007) Journal of Neuroscience , vol.27 , Issue.21 , pp. 5546-5558
    • Meikle, L.1    Talos, D.M.2    Onda, H.3    Pollizzi, K.4    Rotenberg, A.5    Sahin, M.6    Jensen, F.E.7    Kwiatkowski, D.J.8
  • 66
    • 58249127284 scopus 로고    scopus 로고
    • Recent advances in neurobiology of tuberous sclerosis complex
    • Napolioni V, Moavero R, Curatolo P. Recent advances in neurobiology of tuberous sclerosis complex. Brain Dev. 2009;31(2):104-13.
    • (2009) Brain Dev , vol.31 , Issue.2 , pp. 104-113
    • Napolioni, V.1    Moavero, R.2    Curatolo, P.3
  • 67
    • 38149062059 scopus 로고    scopus 로고
    • Role of mTOR in physiology and pathology of the nervous system
    • Swiech L, Perycz M, Malik A, Jaworski J. Role of mTOR in physiology and pathology of the nervous system. Biochim Biophys Acta. 2008;1784(1):116-32.
    • (2008) Biochim Biophys Acta , vol.1784 , Issue.1 , pp. 116-132
    • Swiech, L.1    Perycz, M.2    Malik, A.3    Jaworski, J.4
  • 68
    • 28044456974 scopus 로고    scopus 로고
    • Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2
    • DOI 10.1038/nn1566, PII N1566
    • Tavazoie SF, Alvarez VA, Ridenour DA, Kwiatkowski DJ, Sabatini BL. Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat Neurosci. 2005;8(12):1727-34. (Pubitemid 41683201)
    • (2005) Nature Neuroscience , vol.8 , Issue.12 , pp. 1727-1734
    • Tavazoie, S.F.1    Alvarez, V.A.2    Ridenour, D.A.3    Kwiatkowski, D.J.4    Sabatini, B.L.5
  • 69
    • 8844224854 scopus 로고    scopus 로고
    • Molecular pathogenesis of tuber formation in tuberous sclerosis complex
    • Crino PB. Molecular pathogenesis of tuber formation in tuberous sclerosis complex. J Child Neurol. 2004;19(9):716-25. (Pubitemid 39530082)
    • (2004) Journal of Child Neurology , vol.19 , Issue.9 , pp. 716-725
    • Crino, P.B.1
  • 70
    • 78649330303 scopus 로고    scopus 로고
    • Epilepsy secondary to tuberous sclerosis: Lessons learned and current challenges
    • Moavero R, Cerminara C, Curatolo P. Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges. Childs Nerv Syst. 2010;26(11):1495-504.
    • (2010) Childs Nerv Syst , vol.26 , Issue.11 , pp. 1495-1504
    • Moavero, R.1    Cerminara, C.2    Curatolo, P.3
  • 71
    • 49149088555 scopus 로고    scopus 로고
    • Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis
    • Ehninger D, Han S, Shilyansky C, Zhou Y, LiW, Kwiatkowski DJ, et al. Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med. 2008;14(8):843-8.
    • (2008) Nat Med , vol.14 , Issue.8 , pp. 843-848
    • Ehninger, D.1    Han, S.2    Shilyansky, C.3    Zhou, Y.4    Liw Kwiatkowski, D.J.5
  • 72
    • 59749096847 scopus 로고    scopus 로고
    • Therapeutic targeting of mTOR in tuberous sclerosis
    • Sampson JR. Therapeutic targeting of mTOR in tuberous sclerosis. Biochem Soc Trans. 2009;37(Pt 1):259-64.
    • (2009) Biochem Soc Trans , vol.37 , Issue.PART 1 , pp. 259-264
    • Sampson, J.R.1
  • 73
    • 76249084241 scopus 로고    scopus 로고
    • Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: From tuberous sclerosis to common acquired epilepsies
    • Wong M. Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: from tuberous sclerosis to common acquired epilepsies. Epilepsia. 2010;51(1):27-36.
    • (2010) Epilepsia , vol.51 , Issue.1 , pp. 27-36
    • Wong, M.1
  • 74
    • 42949140259 scopus 로고    scopus 로고
    • Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex
    • DOI 10.1002/ana.21331
    • Zeng LH, Xu L, Gutmann DH, Wong M. Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. Ann Neurol. 2008;63(4):444-53. (Pubitemid 351614710)
    • (2008) Annals of Neurology , vol.63 , Issue.4 , pp. 444-453
    • Zeng, L.-H.1    Xu, L.2    Gutmann, D.H.3    Wong, M.4
  • 75
    • 68149096799 scopus 로고    scopus 로고
    • The pharmacology of mTOR inhibition
    • Guertin DA, Sabatini DM. The pharmacology of mTOR inhibition. Sci Signal. 2009;2(67):e24.
    • (2009) Sci Signal , vol.2 , Issue.67
    • Guertin, D.A.1    Sabatini, D.M.2
  • 76
    • 61849157793 scopus 로고    scopus 로고
    • Novel molecular and cellular therapeutic targets in acute lymphoblastic leukemia and lymphoproliferative disease
    • Brown VI, Seif AE, Reid GS, Teachey DT, Grupp SA. Novel molecular and cellular therapeutic targets in acute lymphoblastic leukemia and lymphoproliferative disease. Immunol Res. 2008;42 (1-3):84-105.
    • (2008) Immunol Res , vol.42 , Issue.1-3 , pp. 84-105
    • Brown, V.I.1    Seif, A.E.2    Reid, G.S.3    Teachey, D.T.4    Grupp, S.A.5
  • 80
    • 0016713286 scopus 로고
    • Rapamycin (AY-22, 989), a new antifungal antibiotic. II. Fermentation, isolation and characterization
    • Sehgal SN, Baker H, Vezina C. Rapamycin (AY-22,989), a new antifungal antibiotic. II. Fermentation, isolation and characterization. J Antibiot (Tokyo). 1975;28(10):727-32.
    • (1975) J Antibiot (Tokyo) , vol.28 , Issue.10 , pp. 727-732
    • Sehgal, S.N.1    Baker, H.2    Vezina, C.3
  • 81
    • 0035165578 scopus 로고    scopus 로고
    • Rapamycin in transplantation: A review of the evidence
    • DOI 10.1046/j.1523-1755.2001.00460.x
    • Saunders RN, Metcalfe MS, Nicholson ML. Rapamycin in transplantation: a review of the evidence. Kidney Int. 2001;59(1):3-16. (Pubitemid 32055209)
    • (2001) Kidney International , vol.59 , Issue.1 , pp. 3-16
    • Saunders, R.N.1    Metcalfe, M.S.2    Nicholson, M.L.3
  • 83
  • 85
    • 38049169559 scopus 로고    scopus 로고
    • Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis
    • Bissler JJ, McCormack FX, Young LR, Elwing JM, Chuck G, Leonard JM, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med. 2008;358(2):140-51.
    • (2008) N Engl J Med , vol.358 , Issue.2 , pp. 140-151
    • Bissler, J.J.1    McCormack, F.X.2    Young, L.R.3    Elwing, J.M.4    Chuck, G.5    Leonard, J.M.6
  • 87
    • 50649123774 scopus 로고    scopus 로고
    • Current management of tuberous sclerosis complex
    • Krueger DA, Franz DN. Current management of tuberous sclerosis complex. Paediatric Drugs. 2008;10(5):299-313.
    • (2008) Paediatric Drugs , vol.10 , Issue.5 , pp. 299-313
    • Krueger, D.A.1    Franz, D.N.2
  • 88
    • 77949420024 scopus 로고    scopus 로고
    • Tuberous sclerosis complex: A brave new world?
    • Ess KC. Tuberous sclerosis complex: a brave new world? Curr Opin Neurol. 2010;23(2):189-93.
    • (2010) Curr Opin Neurol , vol.23 , Issue.2 , pp. 189-193
    • Ess, K.C.1
  • 89
  • 90
    • 63449100787 scopus 로고    scopus 로고
    • Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities
    • Kotulska K, Larysz-Brysz M, Grajkowska W, Jozwiak J, Wlodarski P, Sahin M, et al. Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities. Pediatr Dev Pathol. 2009;12(2):89-95.
    • (2009) Pediatr Dev Pathol , vol.12 , Issue.2 , pp. 89-95
    • Kotulska, K.1    Larysz-Brysz, M.2    Grajkowska, W.3    Jozwiak, J.4    Wlodarski, P.5    Sahin, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.