Dagli AI, Mueller J, Williams CA. Angelman syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, LJH B, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews(R). Seattle (WA):University of Washington; 1993.
Clayton-Smith J. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet. 2003;40(2):87–95.
Article
PubMed
PubMed Central
CAS
Google Scholar
Dan B. Angelman syndrome: current understanding and research prospects. Epilepsia. 2009;50(11):2331–9.
Article
PubMed
Google Scholar
Williams CA. Neurological aspects of the Angelman syndrome. Brain Dev. 2005;27(2):88–94.
Article
PubMed
Google Scholar
Mabb AM, Judson MC, Zylka MJ, Philpot BD. Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes. Trends Neurosci. 2011;34(6):293–303.
Article
PubMed
PubMed Central
CAS
Google Scholar
Steffenburg S, Gillberg CL, Steffenburg U, Kyllerman M. Autism in Angelman syndrome: a population-based study. Pediatr Neurol. 1996;14(2):131–6.
Article
PubMed
CAS
Google Scholar
Dan B. Behavior and neuropsychiatric manifestations in Angelman syndrome. Neuropsychiatr Dis Treat. 2008;4;577.
Vu TH, Hoffman AR. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat Genet. 1997;17(1):12–3.
Article
PubMed
CAS
Google Scholar
Huang HS, Allen JA, Mabb AM, King IF, Miriyala J, Taylor-Blake B, Sciaky N, Dutton JW Jr, Lee HM, Chen X, et al. Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Nature. 2011;481(7380):185–9.
Article
PubMed
PubMed Central
CAS
Google Scholar
Pommier Y, Cushman M. The indenoisoquinoline noncamptothecin topoisomerase I inhibitors: update and perspectives. Mol Cancer Ther. 2009;8(5):1008–14.
Article
PubMed
PubMed Central
CAS
Google Scholar
King IF, Yandava CN, Mabb AM, Hsiao JS, Huang HS, Pearson BL, Calabrese JM, Starmer J, Parker JS, Magnuson T, et al. Topoisomerases facilitate transcription of long genes linked to autism. Nature. 2013;501(7465):58–62.
Article
PubMed
PubMed Central
CAS
Google Scholar
Bomgaars L. The development of camptothecin analogs in childhood cancers. Oncologist. 2001;6(6):506–16.
Article
PubMed
CAS
Google Scholar
Philpot BD, Thompson CE, Franco L, Williams CA. Angelman syndrome: advancing the research frontier of neurodevelopmental disorders. J Neurodev Disord. 2011;3(1):50–6.
Article
PubMed
Google Scholar
Rodriguez-Galindo C, Poquette CA, Marina NM, Head DR, Cain A, Meyer WH, Santana VM, Pappo AS. Hematologic abnormalities and acute myeloid leukemia in children and adolescents administered intensified chemotherapy for the Ewing sarcoma family of tumors. J Pediatr Hematol Oncol. 2000;22(4):321–9.
Article
PubMed
CAS
Google Scholar
Blaney SM, Phillips PC, Packer RJ, Heideman RL, Berg SL, Adamson PC, Allen JC, Sallan SE, Jakacki RI, Lange BJ, et al. Phase II evaluation of topotecan for pediatric central nervous system tumors. Cancer. 1996;78(3):527–31.
Article
PubMed
CAS
Google Scholar
Feun L, Savaraj N. Topoisomerase I inhibitors for the treatment of brain tumors. Expert Rev Anticancer Ther. 2008;8(5):707–16.
Article
PubMed
CAS
Google Scholar
Minturn JE, Janss AJ, Fisher PG, Allen JC, Patti R, Phillips PC, Belasco JB. A phase II study of metronomic oral topotecan for recurrent childhood brain tumors. Pediatr Blood Cancer. 2010;56(1):39–44.
Article
Google Scholar
El-Gizawy SA, Hedaya MA. Comparative brain tissue distribution of camptothecin and topotecan in the rat. Cancer Chemother Pharmacol. 1999;43(5):364–70.
Article
PubMed
CAS
Google Scholar
Motl S, Zhuang Y, Waters CM, Stewart CF. Pharmacokinetic considerations in the treatment of CNS tumours. Clin Pharmacokinet. 2006;45(9):871–903.
Article
PubMed
CAS
Google Scholar
Houghton PJ, Cheshire PJ, Hallman JD, Lutz L, Friedman HS, Danks MK, Houghton JA. Efficacy of topoisomerase I inhibitors, topotecan and irinotecan, administered at low dose levels in protracted schedules to mice bearing xenografts of human tumors. Cancer Chemother Pharmacol. 1995;36(5):393–403.
Article
PubMed
CAS
Google Scholar
Stone JB, DeAngelis LM. Cancer-treatment-induced neurotoxicity--focus on newer treatments. Nat Rev Clin Oncol. 2016;13(2):92–105.
Article
PubMed
CAS
Google Scholar
Soffietti R, Trevisan E, Ruda R. Neurologic complications of chemotherapy and other newer and experimental approaches. Handb Clin Neurol. 2014;121:1199–218.
Article
PubMed
Google Scholar
Ioanoviciu A, Antony S, Pommier Y, Staker BL, Stewart L, Cushman M. Synthesis and mechanism of action studies of a series of norindenoisoquinoline topoisomerase I poisons reveal an inhibitor with a flipped orientation in the ternary DNA−enzyme−inhibitor complex as determined by X-ray crystallographic analysis. J Med Chem. 2005;48(15):4803–14.
Article
PubMed
CAS
Google Scholar
Marchand C, Antony S, Kohn KW, Cushman M, Ioanoviciu A, Staker BL, Burgin AB, Stewart L, Pommier Y. A novel norindenoisoquinoline structure reveals a common interfacial inhibitor paradigm for ternary trapping of the topoisomerase I-DNA covalent complex. Mol Cancer Ther. 2006;5(2):287–95.
Article
PubMed
PubMed Central
CAS
Google Scholar
Staker BL, Feese MD, Cushman M, Pommier Y, Zembower D, Stewart L, Burgin AB. Structures of three classes of anticancer agents bound to the human topoisomerase I−DNA covalent complex. J Med Chem. 2005;48(7):2336–45.
Article
PubMed
CAS
Google Scholar
Mabb AM, Simon JM, King IF, Lee HM, An LK, Philpot BD, Zylka MJ. Topoisomerase 1 regulates gene expression in neurons through cleavage complex-dependent and -independent mechanisms. PLoS One. 2016;11(5):e0156439.
Article
PubMed
PubMed Central
CAS
Google Scholar
Antony S, Kohlhagen G, Agama K, Jayaraman M, Cao S, Durrani FA, Rustum YM, Cushman M, Pommier Y. Cellular topoisomerase I inhibition and antiproliferative activity by MJ-III-65 (NSC 706744), an indenoisoquinoline topoisomerase I poison. Mol Pharmacol. 2005;67(2):523–30.
Article
PubMed
CAS
Google Scholar
Cushman M, Jayaraman M, Vroman JA, Fukunaga AK, Fox BM, Kohlhagen G, Strumberg D, Pommier Y. Synthesis of new Indeno[1, 2-c]isoquinolines: cytotoxic con-camptothecin topoisomerase I inhibitors. J Med Chem. 2000;43(20):3688–98.
Article
PubMed
CAS
Google Scholar
Fox BM, Xiao X, Antony S, Kohlhagen G, Pommier Y, Staker BL, Stewart L, Cushman M. Design, synthesis, and biological evaluation of cytotoxic 11-alkenylindenoisoquinoline topoisomerase I inhibitors and indenoisoquinoline−camptothecin hybrids. J Med Chem. 2003;46(15):3275–82.
Article
PubMed
CAS
Google Scholar
Strumberg D, Pommier Y, Paull K, Jayaraman M, Nagafuji P, Cushman M. Synthesis of cytotoxic indenoisoquinoline topoisomerase I poisons. J Med Chem. 1999;42(3):446–57.
Article
PubMed
CAS
Google Scholar
Kinders RJ, Hollingshead M, Lawrence S, Ji J, Tabb B, Bonner WM, Pommier Y, Rubinstein L, Evrard YA, Parchment RE, et al. Development of a validated immunofluorescence assay for gammaH2AX as a pharmacodynamic marker of topoisomerase I inhibitor activity. Clinical cancer research : an official journal of the American Association for Cancer Research. 2010;16(22):5447–57.
Article
CAS
Google Scholar
Antony S, Agama KK, Miao ZH, Takagi K, Wright MH, Robles AI, Varticovski L, Nagarajan M, Morrell A, Cushman M, et al. Novel indenoisoquinolines NSC 725776 and NSC 724998 produce persistent topoisomerase I cleavage complexes and overcome multidrug resistance. Cancer Res. 2007;67(21):10397–405.
Article
PubMed
CAS
Google Scholar
Nagarajan M, Morrell A, Ioanoviciu A, Antony S, Kohlhagen G, Agama K, Hollingshead M, Pommier Y, Cushman M. Synthesis and evaluation of indenoisoquinoline topoisomerase I inhibitors substituted with nitrogen heterocycles. J Med Chem. 2006;49(21):6283–9.
Article
PubMed
PubMed Central
CAS
Google Scholar
Kummar S, Chen A, Gutierrez M, Pfister TD, Wang L, Redon C, Bonner WM, Yutzy W, Zhang Y, Kinders RJ, et al. Clinical and pharmacologic evaluation of two dosing schedules of indotecan (LMP400), a novel indenoisoquinoline, in patients with advanced solid tumors. Cancer Chemother Pharmacol. 2016;78(1):73–81.
Article
PubMed
PubMed Central
CAS
Google Scholar
Jiang YH, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, Sweatt JD, Beaudet AL. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron. 1998;21(4):799–811.
Article
PubMed
CAS
Google Scholar
Dindot SV, Antalffy BA, Bhattacharjee MB, Beaudet AL. The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum Mol Genet. 2008;17(1):111–8.
Article
PubMed
CAS
Google Scholar
Beck DE, Agama K, Marchand C, Chergui A, Pommier Y, Cushman M. Synthesis and biological evaluation of new carbohydrate-substituted indenoisoquinoline topoisomerase I inhibitors and improved syntheses of the experimental anticancer agents indotecan (LMP400) and indimitecan (LMP776). J Med Chem. 2014;57(4):1495–512.
Article
PubMed
PubMed Central
CAS
Google Scholar
Kim Y, Lee HM, Xiong Y, Sciaky N, Hulbert SW, Cao X, Everitt JI, Jin J, Roth BL, Jiang YH. Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader-Willi syndrome. Nat Med. 2017;23(2):213–22.
Article
PubMed
CAS
Google Scholar
Carpenter AE, Jones TR, Lamprecht MR, Clarke C, Kang IH, Friman O, Guertin DA, Chang JH, Lindquist RA, Moffat J, et al. CellProfiler: image analysis software for identifying and quantifying cell phenotypes. Genome Biol. 2006;7(10):R100.
Article
PubMed
PubMed Central
CAS
Google Scholar
Guo J, Holleran J, Schmitz JC, Czambel K, Beumer JH, Eiseman JL: Pharmacokinetics and pharmacodynamics of indenoisoquinoline LMP400 (indotecan) in BALB/c female mice bearing CT-26 colon tumors. [abstract]. Proceedings of the 106th Annual Meeting of the American Association for. Cancer Research 2015.
Google Scholar
Pommier Y. Topoisomerase I inhibitors: camptothecins and beyond. Nat Rev Cancer. 2006;6(10):789–802.
Article
PubMed
CAS
Google Scholar
Pommier Y, Sun Y, Huang SN, Nitiss JL. Roles of eukaryotic topoisomerases in transcription, replication and genomic stability. Nat Rev Mol Cell Biol. 2016;17(November 2016):703–21.
Article
PubMed
CAS
Google Scholar
Garst J. Safety of topotecan in the treatment of recurrent small-cell lung cancer and ovarian cancer. Expert Opin Drug Saf. 2007;6(1):53–62.
Article
PubMed
CAS
Google Scholar
Fuchs C, Mitchell EP, Hoff PM. Irinotecan in the treatment of colorectal cancer. Cancer Treat Rev. 2006;32(7):491–503.
Article
PubMed
CAS
Google Scholar
Antony S, Jayaraman M, Laco G, Kohlhagen G, Kohn KW, Cushman M, Pommier Y. Differential induction of topoisomerase I-DNA cleavage complexes by the indenoisoquinoline MJ-III-65 (NSC 706744) and camptothecin: base sequence analysis and activity against camptothecin-resistant topoisomerases I. Cancer Res. 2003;63(21):7428–35.
PubMed
CAS
Google Scholar
Mabb AM, Kullmann PH, Twomey MA, Miriyala J, Philpot BD, Zylka MJ. Topoisomerase 1 inhibition reversibly impairs synaptic function. Proc Natl Acad Sci U S A. 2014;111(48):17290–5.
Article
PubMed
PubMed Central
CAS
Google Scholar
Solier S, Ryan MC, Martin SE, Varma S, Kohn KW, Liu H, Zeeberg BR, Pommier Y. Transcription poisoning by topoisomerase I is controlled by gene length, splice sites, and miR-142-3p. Cancer Res. 2013;73(15):4830–9.
Article
PubMed
CAS
Google Scholar
Nagarajan M, Xiao X, Antony S, Kohlhagen G, Pommier Y, Cushman M. Design, synthesis, and biological evaluation of indenoisoquinoline topoisomerase I inhibitors featuring polyamine side chains on the lactam nitrogen. J Med Chem. 2003;46(26):5712–24.
Article
PubMed
CAS
Google Scholar
Cinelli MA, Reddy PV, Lv PC, Liang JH, Chen L, Agama K, Pommier Y, van Breemen RB, Cushman M. Identification, synthesis, and biological evaluation of metabolites of the experimental cancer treatment drugs indotecan (LMP400) and indimitecan (LMP776) and investigation of isomerically hydroxylated indenoisoquinoline analogues as topoisomerase I poisons. J Med Chem. 2012;55(24):10844–62.
Article
PubMed
PubMed Central
CAS
Google Scholar