메뉴 건너뛰기




Volumn 9, Issue 7, 2014, Pages 871-891

Induced pluripotent stem cells for modeling of pediatric neurological disorders

Author keywords

Cell based therapy; Disease modeling; Drug screening; Induced pluripotent stem cells; Pediatric neurological disorders

Indexed keywords

DISEASE CONTROL; GENE TRANSFER; NEURODEGENERATIVE DISEASES; PEDIATRICS; STEM CELLS;

EID: 84903818907     PISSN: 18606768     EISSN: 18607314     Source Type: Journal    
DOI: 10.1002/biot.201400010     Document Type: Review
Times cited : (9)

References (94)
  • 1
    • 80155144126 scopus 로고    scopus 로고
    • Induced pluripotent stem cells (IPSCs) and neurological disease modeling: Progress and promises.
    • Marchetto, M. C., Brennand, K. J., Boyer, L. F., Gage, F. H., Induced pluripotent stem cells (IPSCs) and neurological disease modeling: Progress and promises. Hum. Mol. Genet. 2011, 20, R109-115.
    • (2011) Hum. Mol. Genet. , vol.20
    • Marchetto, M.C.1    Brennand, K.J.2    Boyer, L.F.3    Gage, F.H.4
  • 2
    • 36248966518 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from adult human fibroblasts by defined factors.
    • Takahashi, K., Tanabe, K., Ohnuki, M., Narita, M. et al., Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 2007, 131, 861-872.
    • (2007) Cell , vol.131 , pp. 861-872
    • Takahashi, K.1    Tanabe, K.2    Ohnuki, M.3    Narita, M.4
  • 3
    • 36749043230 scopus 로고    scopus 로고
    • Induced pluripotent stem cell lines derived from human somatic cells.
    • Yu, J., Vodyanik, M. A., Smuga-Otto, K., Antosiewicz-Bourget, J. et al., Induced pluripotent stem cell lines derived from human somatic cells. Science 2007, 318, 1917-1920.
    • (2007) Science , vol.318 , pp. 1917-1920
    • Yu, J.1    Vodyanik, M.A.2    Smuga-Otto, K.3    Antosiewicz-Bourget, J.4
  • 4
    • 77955449906 scopus 로고    scopus 로고
    • Epigenetic memory in induced pluripotent stem cells.
    • Kim, K., Doi, A., Wen, B., Ng, K. et al., Epigenetic memory in induced pluripotent stem cells. Nature 2010, 467, 285-290
    • (2010) Nature , vol.467 , pp. 285-290
    • Kim, K.1    Doi, A.2    Wen, B.3    Ng, K.4
  • 5
    • 55849117368 scopus 로고    scopus 로고
    • Generation of mouse induced pluripotent stem cells without viral vectors.
    • Okita, K., Nakagawa, M., Hyenjong, H., Ichisaka, T., Yamanaka, S., Generation of mouse induced pluripotent stem cells without viral vectors. Science 2008, 322, 949-953.
    • (2008) Science , vol.322 , pp. 949-953
    • Okita, K.1    Nakagawa, M.2    Hyenjong, H.3    Ichisaka, T.4    Yamanaka, S.5
  • 6
    • 64749083939 scopus 로고    scopus 로고
    • Piggybac transposition reprograms fibroblasts to induced pluripotent stem cells.
    • Woltjen, K., Michael, I. P., Mohseni, P., Desai, R. et al., Piggybac transposition reprograms fibroblasts to induced pluripotent stem cells. Nature 2009, 458, 766-770.
    • (2009) Nature , vol.458 , pp. 766-770
    • Woltjen, K.1    Michael, I.P.2    Mohseni, P.3    Desai, R.4
  • 7
    • 77649275936 scopus 로고    scopus 로고
    • A nonviral minicircle vector for deriving human ips cells.
    • Jia, F., Wilson, K. D., Sun, N., Gupta, D. M. et al., A nonviral minicircle vector for deriving human ips cells. Nat. Meth. 2010, 7, 197-199.
    • (2010) Nat. Meth. , vol.7 , pp. 197-199
    • Jia, F.1    Wilson, K.D.2    Sun, N.3    Gupta, D.M.4
  • 8
    • 66049143859 scopus 로고    scopus 로고
    • Generation of human induced pluripotent stem cells by direct delivery of reprogramming proteins.
    • Kim, D., Kim, C. H., Moon, J. I., Chung, Y. G. et al., Generation of human induced pluripotent stem cells by direct delivery of reprogramming proteins. Cell Stem Cell 2009, 4, 472-476.
    • (2009) Cell Stem Cell , vol.4 , pp. 472-476
    • Kim, D.1    Kim, C.H.2    Moon, J.I.3    Chung, Y.G.4
  • 9
    • 80052157957 scopus 로고    scopus 로고
    • Efficient generation of transgene-free human induced pluripotent stem cells (iPSCs) by temperature-sensitive sendai virus vectors.
    • Ban, H., Nishishita, N., Fusaki, N., Tabata, T. et al., Efficient generation of transgene-free human induced pluripotent stem cells (iPSCs) by temperature-sensitive sendai virus vectors. Proc. Nat. Acad. Sci. USA 2011, 108, 14234-14239.
    • (2011) Proc. Nat. Acad. Sci. USA , vol.108 , pp. 14234-14239
    • Ban, H.1    Nishishita, N.2    Fusaki, N.3    Tabata, T.4
  • 10
    • 79955634826 scopus 로고    scopus 로고
    • A more efficient method to generate integration-free human iPS cells.
    • Okita, K., Matsumura, Y., Sato, Y., Okada, A. et al., A more efficient method to generate integration-free human iPS cells. Nat. Meth. 2011, 8, 409-412.
    • (2011) Nat. Meth. , vol.8 , pp. 409-412
    • Okita, K.1    Matsumura, Y.2    Sato, Y.3    Okada, A.4
  • 11
    • 77958536106 scopus 로고    scopus 로고
    • Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA.
    • Warren, L., Manos, P. D., Ahfeldt, T., Loh, Y. H. et al., Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA. Cell Stem Cell 2010, 7, 618-630.
    • (2010) Cell Stem Cell , vol.7 , pp. 618-630
    • Warren, L.1    Manos, P.D.2    Ahfeldt, T.3    Loh, Y.H.4
  • 12
    • 84881256653 scopus 로고    scopus 로고
    • Pluripotent stem cells induced from mouse somatic cells by small-molecule compounds.
    • Hou, P., Li, Y., Zhang, X., Liu, C. et al., Pluripotent stem cells induced from mouse somatic cells by small-molecule compounds. Science 2013, 341, 651-654.
    • (2013) Science , vol.341 , pp. 651-654
    • Hou, P.1    Li, Y.2    Zhang, X.3    Liu, C.4
  • 13
    • 46449094276 scopus 로고    scopus 로고
    • Dissecting direct reprogramming through integrative genomic analysis.
    • Mikkelsen, T. S., Hanna, J., Zhang, X., Ku, M. et al., Dissecting direct reprogramming through integrative genomic analysis. Nature 2008, 454, 49-55.
    • (2008) Nature , vol.454 , pp. 49-55
    • Mikkelsen, T.S.1    Hanna, J.2    Zhang, X.3    Ku, M.4
  • 14
    • 77952699848 scopus 로고    scopus 로고
    • Human embryonic stem cells with biological and epigenetic characteristics similar to those of mouse ESCs.
    • Hanna, J., Cheng, A. W., Saha, K., Kim, J. et al., Human embryonic stem cells with biological and epigenetic characteristics similar to those of mouse ESCs. Proc. Nat. Acad. Sci. USA 2010, 107, 9222-9227.
    • (2010) Proc. Nat. Acad. Sci. USA , vol.107 , pp. 9222-9227
    • Hanna, J.1    Cheng, A.W.2    Saha, K.3    Kim, J.4
  • 15
    • 55749104227 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from primary human fibroblasts with only Oct4 and Sox2.
    • Huangfu, D., Osafune, K., Maehr, R., Guo, W. et al., Induction of pluripotent stem cells from primary human fibroblasts with only Oct4 and Sox2. Nat. Biotechnol. 2008, 26, 1269-1275.
    • (2008) Nat. Biotechnol. , vol.26 , pp. 1269-1275
    • Huangfu, D.1    Osafune, K.2    Maehr, R.3    Guo, W.4
  • 16
    • 73049112178 scopus 로고    scopus 로고
    • Vitamin C enhances the generation of mouse and human induced pluripotent stem cells.
    • Esteban, M. A., Wang, T., Qin, B., Yang, J. et al., Vitamin C enhances the generation of mouse and human induced pluripotent stem cells. Cell Stem Cell 2010, 6, 71-79.
    • (2010) Cell Stem Cell , vol.6 , pp. 71-79
    • Esteban, M.A.1    Wang, T.2    Qin, B.3    Yang, J.4
  • 17
    • 77950965653 scopus 로고    scopus 로고
    • Butyrate greatly enhances derivation of human induced pluripotent stem cells by promoting epigenetic remodeling and the expression of pluripotency-associated genes.
    • Mali, P., Chou, B. K., Yen, J., Ye, Z. et al., Butyrate greatly enhances derivation of human induced pluripotent stem cells by promoting epigenetic remodeling and the expression of pluripotency-associated genes. Stem Cells 2010, 28, 713-720.
    • (2010) Stem Cells , vol.28 , pp. 713-720
    • Mali, P.1    Chou, B.K.2    Yen, J.3    Ye, Z.4
  • 18
    • 77956638256 scopus 로고    scopus 로고
    • Generation of human induced pluripotent stem cells from liver progenitor cells by only small molecules.
    • author reply 1169
    • Moriguchi, H., Chung, R. T., Mihara, M., Sato, C., Generation of human induced pluripotent stem cells from liver progenitor cells by only small molecules. Hepatology 2010, 52, 1169; author reply 1169-1170.
    • (2010) Hepatology , vol.52 , pp. 1169-1170
    • Moriguchi, H.1    Chung, R.T.2    Mihara, M.3    Sato, C.4
  • 19
    • 80052819789 scopus 로고    scopus 로고
    • Rapamycin and other longevity-promoting compounds enhance the generation of mouse induced pluripotent stem cells.
    • Chen, T., Shen, L., Yu, J., Wan, H. et al., Rapamycin and other longevity-promoting compounds enhance the generation of mouse induced pluripotent stem cells. Aging Cell 2011, 10, 908-911.
    • (2011) Aging Cell , vol.10 , pp. 908-911
    • Chen, T.1    Shen, L.2    Yu, J.3    Wan, H.4
  • 20
    • 80053633785 scopus 로고    scopus 로고
    • Lithium, an anti-psychotic drug, greatly enhances the generation of induced pluripotent stem cells.
    • Wang, Q., Xu, X., Li, J., Liu, J. et al., Lithium, an anti-psychotic drug, greatly enhances the generation of induced pluripotent stem cells. Cell Res. 2011, 21, 1424-1435.
    • (2011) Cell Res. , vol.21 , pp. 1424-1435
    • Wang, Q.1    Xu, X.2    Li, J.3    Liu, J.4
  • 21
    • 54949136146 scopus 로고    scopus 로고
    • Two supporting factors greatly improve the efficiency of human ipsc generation.
    • Zhao, Y., Yin, X., Qin, H., Zhu, F. et al., Two supporting factors greatly improve the efficiency of human ipsc generation. Cell Stem Cell 2008, 3, 475-479.
    • (2008) Cell Stem Cell , vol.3 , pp. 475-479
    • Zhao, Y.1    Yin, X.2    Qin, H.3    Zhu, F.4
  • 22
    • 77955818622 scopus 로고    scopus 로고
    • Robust activation of the human but not mouse telomerase gene during the induction of pluripotency.
    • Mathew, R., Jia, W., Sharma, A., Zhao, Y. et al., Robust activation of the human but not mouse telomerase gene during the induction of pluripotency. FASEB J. 2010, 24, 2702-2715.
    • (2010) FASEB J. , vol.24 , pp. 2702-2715
    • Mathew, R.1    Jia, W.2    Sharma, A.3    Zhao, Y.4
  • 23
    • 84866369892 scopus 로고    scopus 로고
    • Single-cell expression analyses during cellular reprogramming reveal an early stochastic and a late hierarchic phase.
    • Buganim, Y., Faddah, D. A., Cheng, A. W., Itskovich, E. et al., Single-cell expression analyses during cellular reprogramming reveal an early stochastic and a late hierarchic phase. Cell 2012, 150, 1209-1222.
    • (2012) Cell , vol.150 , pp. 1209-1222
    • Buganim, Y.1    Faddah, D.A.2    Cheng, A.W.3    Itskovich, E.4
  • 24
    • 84885619736 scopus 로고    scopus 로고
    • Deterministic direct reprogramming of somatic cells to pluripotency.
    • Rais, Y., Zviran, A., Geula, S., Gafni, O. et al., Deterministic direct reprogramming of somatic cells to pluripotency. Nature 2013, 502, 65-70.
    • (2013) Nature , vol.502 , pp. 65-70
    • Rais, Y.1    Zviran, A.2    Geula, S.3    Gafni, O.4
  • 25
    • 0032491416 scopus 로고    scopus 로고
    • Embryonic stem cell lines derived from human blastocysts.
    • Thomson, J. A., Itskovitz-Eldor, J., Shapiro, S. S., Waknitz, M. A. et al., Embryonic stem cell lines derived from human blastocysts. Science 1998, 282, 1145-1147.
    • (1998) Science , vol.282 , pp. 1145-1147
    • Thomson, J.A.1    Itskovitz-Eldor, J.2    Shapiro, S.S.3    Waknitz, M.A.4
  • 26
    • 72149110399 scopus 로고    scopus 로고
    • Breaking the code of DNA binding specificity of TAL-type III effectors.
    • Boch, J., Scholze, H., Schornack, S., Landgraf, A. et al., Breaking the code of DNA binding specificity of TAL-type III effectors. Science 2009, 326, 1509-1512.
    • (2009) Science , vol.326 , pp. 1509-1512
    • Boch, J.1    Scholze, H.2    Schornack, S.3    Landgraf, A.4
  • 27
    • 84861170955 scopus 로고    scopus 로고
    • A transcription activator-like effector toolbox for genome engineering.
    • Sanjana, N. E., Cong, L., Zhou, Y., Cunniff, M. M. et al., A transcription activator-like effector toolbox for genome engineering. Nat. Protoc. 2012, 7, 171-192.
    • (2012) Nat. Protoc. , vol.7 , pp. 171-192
    • Sanjana, N.E.1    Cong, L.2    Zhou, Y.3    Cunniff, M.M.4
  • 28
    • 84873734105 scopus 로고    scopus 로고
    • RNA-guided human genome engineering via cas9.
    • Mali, P., Yang, L., Esvelt, K. M., Aach, J. et al., RNA-guided human genome engineering via cas9. Science 2013, 339, 823-826.
    • (2013) Science , vol.339 , pp. 823-826
    • Mali, P.1    Yang, L.2    Esvelt, K.M.3    Aach, J.4
  • 29
    • 84878852415 scopus 로고    scopus 로고
    • Modeling human disease with pluripotent stem cells: From genome association to function.
    • Merkle, F. T., Eggan, K., Modeling human disease with pluripotent stem cells: From genome association to function. Cell Stem Cell 2013, 12, 656-668.
    • (2013) Cell Stem Cell , vol.12 , pp. 656-668
    • Merkle, F.T.1    Eggan, K.2
  • 30
    • 37549030199 scopus 로고    scopus 로고
    • Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin.
    • Hanna, J., Wernig, M., Markoulaki, S., Sun, C. W. et al., Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin. Science 2007, 318, 1920-1923.
    • (2007) Science , vol.318 , pp. 1920-1923
    • Hanna, J.1    Wernig, M.2    Markoulaki, S.3    Sun, C.W.4
  • 31
    • 79960833952 scopus 로고    scopus 로고
    • Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations.
    • Soldner, F., Laganiere, J., Cheng, A. W., Hockemeyer, D. et al., Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations. Cell 2011, 146, 318-331.
    • (2011) Cell , vol.146 , pp. 318-331
    • Soldner, F.1    Laganiere, J.2    Cheng, A.W.3    Hockemeyer, D.4
  • 32
    • 84890033064 scopus 로고    scopus 로고
    • Functional repair of cftr by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients.
    • Schwank, G., Koo, B. K., Sasselli, V., Dekkers, J. F. et al., Functional repair of cftr by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients. Cell Stem Cell 2013, 13, 653-658.
    • (2013) Cell Stem Cell , vol.13 , pp. 653-658
    • Schwank, G.1    Koo, B.K.2    Sasselli, V.3    Dekkers, J.F.4
  • 33
    • 79957807595 scopus 로고    scopus 로고
    • Immunogenicity of induced pluripotent stem cells.
    • Zhao, T., Zhang, Z. N., Rong, Z., Xu, Y., Immunogenicity of induced pluripotent stem cells. Nature 2011, 474, 212-215.
    • (2011) Nature , vol.474 , pp. 212-215
    • Zhao, T.1    Zhang, Z.N.2    Rong, Z.3    Xu, Y.4
  • 34
    • 84875811124 scopus 로고    scopus 로고
    • Induced pluripotent stem cell-derived neural cells survive and mature in the nonhuman primate brain.
    • Emborg, M. E., Liu, Y., Xi, J., Zhang, X. et al., Induced pluripotent stem cell-derived neural cells survive and mature in the nonhuman primate brain. Cell Rep. 2013, 3, 646-650.
    • (2013) Cell Rep. , vol.3 , pp. 646-650
    • Emborg, M.E.1    Liu, Y.2    Xi, J.3    Zhang, X.4
  • 35
    • 84874682918 scopus 로고    scopus 로고
    • Negligible immunogenicity of terminally differentiated cells derived from induced pluripotent or embryonic stem cells.
    • Araki, R., Uda, M., Hoki, Y., Sunayama, M. et al., Negligible immunogenicity of terminally differentiated cells derived from induced pluripotent or embryonic stem cells. Nature 2013, 494, 100-104.
    • (2013) Nature , vol.494 , pp. 100-104
    • Araki, R.1    Uda, M.2    Hoki, Y.3    Sunayama, M.4
  • 36
    • 84903814240 scopus 로고    scopus 로고
    • Takahashi M., Pilot clinical study into iPS cell therapy for eye disease starts in Japan. RIKEN Press Release 2013.
    • Takahashi M., Pilot clinical study into iPS cell therapy for eye disease starts in Japan. RIKEN Press Release 2013.
  • 37
    • 84877935484 scopus 로고    scopus 로고
    • Developing rods transplanted into the degenerating retina of Crx-knockout mice exhibit neural activity similar to native photoreceptors.
    • Homma, K., Okamoto, S., Mandai, M., Gotoh, N. et al., Developing rods transplanted into the degenerating retina of Crx-knockout mice exhibit neural activity similar to native photoreceptors. Stem Cells 2013, 31, 1149-1159.
    • (2013) Stem Cells , vol.31 , pp. 1149-1159
    • Homma, K.1    Okamoto, S.2    Mandai, M.3    Gotoh, N.4
  • 38
    • 84893748014 scopus 로고    scopus 로고
    • Characterization of human induced pluripotent stem cell-derived retinal pigment epithelium cell sheets aiming for clinical application.
    • Kamao, H., Mandai, M., Okamoto, S., Sakai, N. et al., Characterization of human induced pluripotent stem cell-derived retinal pigment epithelium cell sheets aiming for clinical application. Stem Cell Reports 2014, 2, 205-218.
    • (2014) Stem Cell Reports , vol.2 , pp. 205-218
    • Kamao, H.1    Mandai, M.2    Okamoto, S.3    Sakai, N.4
  • 39
    • 84857643783 scopus 로고    scopus 로고
    • Embryonic stem cell trials for macular degeneration: A preliminary report.
    • Schwartz, S. D., Hubschman, J. P., Heilwell, G., Franco-Cardenas, V. et al., Embryonic stem cell trials for macular degeneration: A preliminary report. Lancet 2012, 379, 713-720.
    • (2012) Lancet , vol.379 , pp. 713-720
    • Schwartz, S.D.1    Hubschman, J.P.2    Heilwell, G.3    Franco-Cardenas, V.4
  • 40
    • 84877301288 scopus 로고    scopus 로고
    • Functional maturation of hPSC-derived forebrain interneurons requires an extended timeline and mimics human neural development.
    • Nicholas, C. R., Chen, J., Tang, Y., Southwell, D. G. et al., Functional maturation of hPSC-derived forebrain interneurons requires an extended timeline and mimics human neural development. Cell Stem Cell 2013, 12, 573-586.
    • (2013) Cell Stem Cell , vol.12 , pp. 573-586
    • Nicholas, C.R.1    Chen, J.2    Tang, Y.3    Southwell, D.G.4
  • 41
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
    • Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q. et al., Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 1999, 23, 185-188.
    • (1999) Nat. Genet. , vol.23 , pp. 185-188
    • Amir, R.E.1    Van den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4
  • 42
    • 0020507697 scopus 로고
    • A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases.
    • Hagberg, B., Aicardi, J., Dias, K., Ramos, O., A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases. Ann. Neurol. 1983, 14, 471-479.
    • (1983) Ann. Neurol. , vol.14 , pp. 471-479
    • Hagberg, B.1    Aicardi, J.2    Dias, K.3    Ramos, O.4
  • 43
    • 79955602167 scopus 로고    scopus 로고
    • Isolation of MECP2-null Rett syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.
    • Cheung, A. Y., Horvath, L. M., Grafodatskaya, D., Pasceri, P. et al., Isolation of MECP2-null Rett syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Hum. Mol. Genet. 2011, 20, 2103-2115.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 2103-2115
    • Cheung, A.Y.1    Horvath, L.M.2    Grafodatskaya, D.3    Pasceri, P.4
  • 44
    • 80052155858 scopus 로고    scopus 로고
    • Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome.
    • Kim, K. Y., Hysolli, E., Park, I. H., Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome. Proc. Nat. Acad. Sci. USA 2011, 108, 14169-14174.
    • (2011) Proc. Nat. Acad. Sci. USA , vol.108 , pp. 14169-14174
    • Kim, K.Y.1    Hysolli, E.2    Park, I.H.3
  • 45
    • 78149488365 scopus 로고    scopus 로고
    • A model for neural development and treatment of rett syndrome using human induced pluripotent stem cells.
    • Marchetto, M. C., Carromeu, C., Acab, A., Yu, D. et al., A model for neural development and treatment of rett syndrome using human induced pluripotent stem cells. Cell 2010, 143, 527-539.
    • (2010) Cell , vol.143 , pp. 527-539
    • Marchetto, M.C.1    Carromeu, C.2    Acab, A.3    Yu, D.4
  • 46
  • 47
    • 78549247463 scopus 로고    scopus 로고
    • L1 retrotransposition in neurons is modulated by Mecp2.
    • Muotri, A. R., Marchetto, M. C., Coufal, N. G., Oefner, R. et al., L1 retrotransposition in neurons is modulated by Mecp2. Nature 2010, 468, 443-446.
    • (2010) Nature , vol.468 , pp. 443-446
    • Muotri, A.R.1    Marchetto, M.C.2    Coufal, N.G.3    Oefner, R.4
  • 48
    • 24644507039 scopus 로고    scopus 로고
    • Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans.
    • Evans, P. D., Gilbert, S. L., Mekel-Bobrov, N., Vallender, E. J. et al., Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans. Science 2005, 309, 1717-1720.
    • (2005) Science , vol.309 , pp. 1717-1720
    • Evans, P.D.1    Gilbert, S.L.2    Mekel-Bobrov, N.3    Vallender, E.J.4
  • 50
    • 0028904864 scopus 로고
    • Triplet repeat expansion mutations: The example of fragile x syndrome.
    • Warren, S. T., Ashley, C. T. Jr., Triplet repeat expansion mutations: The example of fragile x syndrome. Ann. Rev. Neurosci. 1995, 18, 77-99.
    • (1995) Ann. Rev. Neurosci. , vol.18 , pp. 77-99
    • Warren, S.T.1    Ashley Jr., C.T.2
  • 52
    • 35848937244 scopus 로고    scopus 로고
    • Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos.
    • Eiges, R., Urbach, A., Malcov, M., Frumkin, T. et al., Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. Cell Stem Cell 2007, 1, 568-577.
    • (2007) Cell Stem Cell , vol.1 , pp. 568-577
    • Eiges, R.1    Urbach, A.2    Malcov, M.3    Frumkin, T.4
  • 53
    • 77956214743 scopus 로고    scopus 로고
    • Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells.
    • Urbach, A., Bar-Nur, O., Daley, G. Q., Benvenisty, N., Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells. Cell Stem Cell 2010, 6, 407-411.
    • (2010) Cell Stem Cell , vol.6 , pp. 407-411
    • Urbach, A.1    Bar-Nur, O.2    Daley, G.Q.3    Benvenisty, N.4
  • 54
    • 80053948646 scopus 로고    scopus 로고
    • Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile x syndrome.
    • Sheridan, S. D., Theriault, K. M., Reis, S. A., Zhou, F. et al., Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile x syndrome. PLoS One 2011, 6, e26203.
    • (2011) PLoS One , vol.6
    • Sheridan, S.D.1    Theriault, K.M.2    Reis, S.A.3    Zhou, F.4
  • 57
    • 84863229339 scopus 로고    scopus 로고
    • A human stem cell model of early alzheimer's disease pathology in down syndrome.
    • Shi, Y., Kirwan, P., Smith, J., MacLean, G. et al., A human stem cell model of early alzheimer's disease pathology in down syndrome. Sci. Transl. Med. 2012, 4, 124ra129.
    • (2012) Sci. Transl. Med. , vol.4
    • Shi, Y.1    Kirwan, P.2    Smith, J.3    MacLean, G.4
  • 58
    • 38349120430 scopus 로고    scopus 로고
    • Genomic and functional profiling of human down syndrome neural progenitors implicates s100b and aquaporin 4 in cell injury.
    • Esposito, G., Imitola, J., Lu, J., De Filippis, D. et al., Genomic and functional profiling of human down syndrome neural progenitors implicates s100b and aquaporin 4 in cell injury. Human Mol. Genet. 2008, 17, 440-457.
    • (2008) Human Mol. Genet. , vol.17 , pp. 440-457
    • Esposito, G.1    Imitola, J.2    Lu, J.3    De Filippis, D.4
  • 59
    • 50549089957 scopus 로고    scopus 로고
    • Disease-specific induced pluripotent stem cells.
    • Park, I. H., Arora, N., Huo, H., Maherali, N. et al., Disease-specific induced pluripotent stem cells. Cell 2008, 134, 877-886.
    • (2008) Cell , vol.134 , pp. 877-886
    • Park, I.H.1    Arora, N.2    Huo, H.3    Maherali, N.4
  • 60
    • 77955173454 scopus 로고    scopus 로고
    • Clinical and genetic aspects of angelman syndrome.
    • Williams, C. A., Driscoll, D. J., Dagli, A. I., Clinical and genetic aspects of angelman syndrome. Genet. Med. 2010, 12, 385-395.
    • (2010) Genet. Med. , vol.12 , pp. 385-395
    • Williams, C.A.1    Driscoll, D.J.2    Dagli, A.I.3
  • 61
    • 31044455614 scopus 로고    scopus 로고
    • Prader-willi syndrome: Clinical genetics, cytogenetics and molecular biology.
    • Bittel, D. C., Butler, M. G., Prader-willi syndrome: Clinical genetics, cytogenetics and molecular biology. Exp. Rev. Mol. Medi. 2005, 7, 1-20.
    • (2005) Exp. Rev. Mol. Medi. , vol.7 , pp. 1-20
    • Bittel, D.C.1    Butler, M.G.2
  • 62
    • 78049303170 scopus 로고    scopus 로고
    • Induced pluripotent stem cell models of the genomic imprinting disorders angelman and prader-willi syndromes.
    • Chamberlain, S. J., Chen, P. F., Ng, K. Y., Bourgois-Rocha, F. et al., Induced pluripotent stem cell models of the genomic imprinting disorders angelman and prader-willi syndromes. Proc. Nat. Acad. Sci. USA 2010, 107, 17668-17673.
    • (2010) Proc. Nat. Acad. Sci. USA , vol.107 , pp. 17668-17673
    • Chamberlain, S.J.1    Chen, P.F.2    Ng, K.Y.3    Bourgois-Rocha, F.4
  • 63
    • 78650051022 scopus 로고    scopus 로고
    • Induced pluripotent stem cells can be used to model the genomic imprinting disorder Prader-Willi syndrome.
    • Yang, J., Cai, J., Zhang, Y., Wang, X. et al., Induced pluripotent stem cells can be used to model the genomic imprinting disorder Prader-Willi syndrome. J. Biol. Chem. 2010, 285, 40303-40311.
    • (2010) J. Biol. Chem. , vol.285 , pp. 40303-40311
    • Yang, J.1    Cai, J.2    Zhang, Y.3    Wang, X.4
  • 64
    • 78650115906 scopus 로고    scopus 로고
    • Perspectives and diagnostic considerations in spinal muscular atrophy.
    • Prior, T. W., Perspectives and diagnostic considerations in spinal muscular atrophy. Genet. Med. 2010, 12, 145-152.
    • (2010) Genet. Med. , vol.12 , pp. 145-152
    • Prior, T.W.1
  • 65
    • 77953893282 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Mechanisms and therapeutic strategies.
    • Lorson, C. L., Rindt, H., Shababi, M., Spinal muscular atrophy: Mechanisms and therapeutic strategies. Hum. Mol. Genet. 2010, 19, R111-118.
    • (2010) Hum. Mol. Genet. , vol.19
    • Lorson, C.L.1    Rindt, H.2    Shababi, M.3
  • 66
    • 81855206164 scopus 로고    scopus 로고
    • Brief report: Phenotypic rescue of induced pluripotent stem cell-derived motoneurons of a spinal muscular atrophy patient.
    • Chang, T., Zheng, W., Tsark, W., Bates, S. et al., Brief report: Phenotypic rescue of induced pluripotent stem cell-derived motoneurons of a spinal muscular atrophy patient. Stem Cells 2011, 29, 2090-2093.
    • (2011) Stem Cells , vol.29 , pp. 2090-2093
    • Chang, T.1    Zheng, W.2    Tsark, W.3    Bates, S.4
  • 67
    • 58249110796 scopus 로고    scopus 로고
    • Induced pluripotent stem cells from a spinal muscular atrophy patient.
    • Ebert, A. D., Yu, J., Rose, F. F. Jr., Mattis, V. B. et al., Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature 2009, 457, 277-280.
    • (2009) Nature , vol.457 , pp. 277-280
    • Ebert, A.D.1    Yu, J.2    Rose Jr., F.F.3    Mattis, V.B.4
  • 68
    • 54049142098 scopus 로고    scopus 로고
    • Friedreich ataxia.
    • Pandolfo, M., Friedreich ataxia. Arch. Neurol. 2008, 65, 1296-1303.
    • (2008) Arch. Neurol. , vol.65 , pp. 1296-1303
    • Pandolfo, M.1
  • 69
    • 78049512763 scopus 로고    scopus 로고
    • Friedreich's ataxia induced pluripotent stem cells model intergenerational gaattc triplet repeat instability.
    • Ku, S., Soragni, E., Campau, E., Thomas, E. A. et al., Friedreich's ataxia induced pluripotent stem cells model intergenerational gaattc triplet repeat instability. Cell Stem Cell 2010, 7, 631-637.
    • (2010) Cell Stem Cell , vol.7 , pp. 631-637
    • Ku, S.1    Soragni, E.2    Campau, E.3    Thomas, E.A.4
  • 70
    • 79960331887 scopus 로고    scopus 로고
    • Generation of induced pluripotent stem cell lines from friedreich ataxia patients.
    • Liu, J., Verma, P. J., Evans-Galea, M. V., Delatycki, M. B. et al., Generation of induced pluripotent stem cell lines from friedreich ataxia patients. Stem Cell Reviews 2011, 7, 703-713.
    • (2011) Stem Cell Reviews , vol.7 , pp. 703-713
    • Liu, J.1    Verma, P.J.2    Evans-Galea, M.V.3    Delatycki, M.B.4
  • 72
    • 0027532282 scopus 로고
    • Putative x-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.
    • Mosser, J., Douar, A. M., Sarde, C. O., Kioschis, P. et al., Putative x-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993, 361, 726-730.
    • (1993) Nature , vol.361 , pp. 726-730
    • Mosser, J.1    Douar, A.M.2    Sarde, C.O.3    Kioschis, P.4
  • 73
    • 0035208916 scopus 로고    scopus 로고
    • Abcd1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations.
    • Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M. et al., Abcd1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations. Hum. Mutat. 2001, 18, 499-515.
    • (2001) Hum. Mutat. , vol.18 , pp. 499-515
    • Kemp, S.1    Pujol, A.2    Waterham, H.R.3    van Geel, B.M.4
  • 74
    • 80052579389 scopus 로고    scopus 로고
    • Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients.
    • Jang, J., Kang, H. C., Kim, H. S., Kim, J. Y. et al., Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients. Ann. Neurol. 2011, 70, 402-409.
    • (2011) Ann. Neurol. , vol.70 , pp. 402-409
    • Jang, J.1    Kang, H.C.2    Kim, H.S.3    Kim, J.Y.4
  • 75
    • 0032562653 scopus 로고    scopus 로고
    • Lovastatin and sodium phenylacetate normalize the levels of very long chain fatty acids in skin fibroblasts of X- adrenoleukodystrophy.
    • Singh, I., Pahan, K., Khan, M., Lovastatin and sodium phenylacetate normalize the levels of very long chain fatty acids in skin fibroblasts of X- adrenoleukodystrophy. FEBS Lett. 1998, 426, 342-346.
    • (1998) FEBS Lett. , vol.426 , pp. 342-346
    • Singh, I.1    Pahan, K.2    Khan, M.3
  • 76
    • 84876839257 scopus 로고    scopus 로고
    • A human dravet syndrome model from patient induced pluripotent stem cells.
    • Higurashi, N., Uchida, T., Lossin, C., Misumi, Y. et al., A human dravet syndrome model from patient induced pluripotent stem cells. Mol. Brain 2013, 6, 19.
    • (2013) Mol. Brain , vol.6 , pp. 19
    • Higurashi, N.1    Uchida, T.2    Lossin, C.3    Misumi, Y.4
  • 77
    • 84883302304 scopus 로고    scopus 로고
    • Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.
    • Liu, Y., Lopez-Santiago, L. F., Yuan, Y., Jones, J. M. et al., Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism. Ann. Neurol. 2013, 74, 128-139.
    • (2013) Ann. Neurol. , vol.74 , pp. 128-139
    • Liu, Y.1    Lopez-Santiago, L.F.2    Yuan, Y.3    Jones, J.M.4
  • 78
    • 84885724899 scopus 로고    scopus 로고
    • Modeling dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons.
    • Jiao, J., Yang, Y., Shi, Y., Chen, J. et al., Modeling dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons. Hum. Mol. Genet. 2013, 22, 4241-4252.
    • (2013) Hum. Mol. Genet. , vol.22 , pp. 4241-4252
    • Jiao, J.1    Yang, Y.2    Shi, Y.3    Chen, J.4
  • 79
    • 68549090915 scopus 로고    scopus 로고
    • Severe epilepsy syndromes of early childhood: The link between genetics and pathophysiology with a focus on scn1a mutations.
    • Stafstrom, C. E., Severe epilepsy syndromes of early childhood: The link between genetics and pathophysiology with a focus on scn1a mutations. J. Child Neurol. 2009, 24, 15S-23.
    • (2009) J. Child Neurol. , vol.24
    • Stafstrom, C.E.1
  • 80
    • 37749029721 scopus 로고    scopus 로고
    • Persistent sodium current and its role in epilepsy.
    • Stafstrom, C. E., Persistent sodium current and its role in epilepsy. Epilepsy Curr. 2007, 7, 15-22.
    • (2007) Epilepsy Curr. , vol.7 , pp. 15-22
    • Stafstrom, C.E.1
  • 81
    • 33748115786 scopus 로고    scopus 로고
    • Reduced sodium current in gabaergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.
    • Yu, F. H., Mantegazza, M., Westenbroek, R. E., Robbins, C. A. et al., Reduced sodium current in gabaergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nature Neurosci. 2006, 9, 1142-1149.
    • (2006) Nature Neurosci. , vol.9 , pp. 1142-1149
    • Yu, F.H.1    Mantegazza, M.2    Westenbroek, R.E.3    Robbins, C.A.4
  • 82
    • 41349090105 scopus 로고    scopus 로고
    • Generation of human induced pluripotent stem cells from dermal fibroblasts.
    • Lowry, W. E., Richter, L., Yachechko, R., Pyle, A. D. et al., Generation of human induced pluripotent stem cells from dermal fibroblasts. Proc. Nat. Acad. Sci. USA 2008, 105, 2883-2888.
    • (2008) Proc. Nat. Acad. Sci. USA , vol.105 , pp. 2883-2888
    • Lowry, W.E.1    Richter, L.2    Yachechko, R.3    Pyle, A.D.4
  • 83
    • 84877022015 scopus 로고    scopus 로고
    • Generation of human-induced pluripotent stem cells by lentiviral transduction.
    • Moore, J. C., Generation of human-induced pluripotent stem cells by lentiviral transduction. Meth. Mol. Biol. 2013, 997, 35-43.
    • (2013) Meth. Mol. Biol. , vol.997 , pp. 35-43
    • Moore, J.C.1
  • 84
    • 50849142559 scopus 로고    scopus 로고
    • A high-efficiency system for the generation and study of human induced pluripotent stem cells.
    • Maherali, N., Ahfeldt, T., Rigamonti, A., Utikal, J. et al., A high-efficiency system for the generation and study of human induced pluripotent stem cells. Cell Stem Cell 2008, 3, 340-345.
    • (2008) Cell Stem Cell , vol.3 , pp. 340-345
    • Maherali, N.1    Ahfeldt, T.2    Rigamonti, A.3    Utikal, J.4
  • 85
    • 77958082207 scopus 로고    scopus 로고
    • Generation of transgene-free lung disease-specific human induced pluripotent stem cells using a single excisable lentiviral stem cell cassette.
    • Somers, A., Jean, J. C., Sommer, C. A., Omari, A. et al., Generation of transgene-free lung disease-specific human induced pluripotent stem cells using a single excisable lentiviral stem cell cassette. Stem Cells 2010, 28, 1728-1740.
    • (2010) Stem Cells , vol.28 , pp. 1728-1740
    • Somers, A.1    Jean, J.C.2    Sommer, C.A.3    Omari, A.4
  • 86
    • 45449094570 scopus 로고    scopus 로고
    • Reprogramming of pancreatic beta cells into induced pluripotent stem cells.
    • Stadtfeld, M., Brennand, K., Hochedlinger, K., Reprogramming of pancreatic beta cells into induced pluripotent stem cells. Curr. Biol. 2008, 18, 890-894.
    • (2008) Curr. Biol. , vol.18 , pp. 890-894
    • Stadtfeld, M.1    Brennand, K.2    Hochedlinger, K.3
  • 87
    • 72849137462 scopus 로고    scopus 로고
    • Adenoviral gene delivery can reprogram human fibroblasts to induced pluripotent stem cells.
    • Zhou, W., Freed, C.R., Adenoviral gene delivery can reprogram human fibroblasts to induced pluripotent stem cells. Stem Cells 2009, 11, 2667-2674.
    • (2009) Stem Cells , vol.11 , pp. 2667-2674
    • Zhou, W.1    Freed, C.R.2
  • 88
    • 77955118962 scopus 로고    scopus 로고
    • Generation of human induced pluripotent stem cells by simple transient transfection of plasmid DNA encoding reprogramming factors.
    • Si-Tayeb, K., Noto, F. K., Sepac, A., Sedlic, F. et al., Generation of human induced pluripotent stem cells by simple transient transfection of plasmid DNA encoding reprogramming factors. BMC Dev. Biol. 2010, 10, 81.
    • (2010) BMC Dev. Biol. , vol.10 , pp. 81
    • Si-Tayeb, K.1    Noto, F.K.2    Sepac, A.3    Sedlic, F.4
  • 89
    • 79953826088 scopus 로고    scopus 로고
    • Efficient generation of transgene-free induced pluripotent stem cells from normal and neoplastic bone marrow and cord blood mononuclear cells.
    • Hu, K., Yu, J., Suknuntha, K., Tian, S. et al., Efficient generation of transgene-free induced pluripotent stem cells from normal and neoplastic bone marrow and cord blood mononuclear cells. Blood 2011, 117, e109-119.
    • (2011) Blood , vol.117
    • Hu, K.1    Yu, J.2    Suknuntha, K.3    Tian, S.4
  • 90
    • 78651108455 scopus 로고    scopus 로고
    • Generation of adult human induced pluripotent stem cells using nonviral minicircle DNA vectors.
    • Narsinh, K. H., Jia, F., Robbins, R. C., Kay, M. A. et al., Generation of adult human induced pluripotent stem cells using nonviral minicircle DNA vectors. Nature Protoco. 2011, 6, 78-88.
    • (2011) Nature Protoco. , vol.6 , pp. 78-88
    • Narsinh, K.H.1    Jia, F.2    Robbins, R.C.3    Kay, M.A.4
  • 91
    • 84863505092 scopus 로고    scopus 로고
    • Generation of induced pluripotent stem cells from primary chronic myelogenous leukemia patient samples.
    • Kumano, K., Arai, S., Hosoi, M., Taoka, K. et al., Generation of induced pluripotent stem cells from primary chronic myelogenous leukemia patient samples. Blood 2012, 119, 6234-6242.
    • (2012) Blood , vol.119 , pp. 6234-6242
    • Kumano, K.1    Arai, S.2    Hosoi, M.3    Taoka, K.4
  • 92
    • 84880124696 scopus 로고    scopus 로고
    • Churko, J., Burridge, P., Wu, J., Generation of human ipscs from human peripheral blood mononuclear cells using non-integrative sendai virus in chemically defined conditions, in: Kao, R. L. (Ed.), Cellular cardiomyoplasty, Humana Press 2013 81-88.
    • Churko, J., Burridge, P., Wu, J., Generation of human ipscs from human peripheral blood mononuclear cells using non-integrative sendai virus in chemically defined conditions, in: Kao, R. L. (Ed.), Cellular cardiomyoplasty, Humana Press 2013, pp. 81-88.
  • 93
    • 66049135249 scopus 로고    scopus 로고
    • Generation of induced pluripotent stem cells using recombinant proteins.
    • Zhou, H., Wu, S., Joo, J.Y., Zhu, S. et al., Generation of induced pluripotent stem cells using recombinant proteins. Cell Stem Cell 2009, 5, 381-384.
    • (2009) Cell Stem Cell , vol.5 , pp. 381-384
    • Zhou, H.1    Wu, S.2    Joo, J.Y.3    Zhu, S.4
  • 94
    • 79957855262 scopus 로고    scopus 로고
    • Reprogramming of mouse and human cells to pluripotency using mature microRNAs.
    • Miyoshi, N., Ishii, H., Nagano, H., Haraguchi, N. et al., Reprogramming of mouse and human cells to pluripotency using mature microRNAs. Cell Stem Cell 2011, 8, 633-638.
    • (2011) Cell Stem Cell , vol.8 , pp. 633-638
    • Miyoshi, N.1    Ishii, H.2    Nagano, H.3    Haraguchi, N.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.