메뉴 건너뛰기




Volumn 19, Issue 12, 2011, Pages 1246-1255

IPS cells to model CDKL5-related disorders

Author keywords

CDKL5; disease modelling; induced pluripotent stem cells (iPSC); Rett syndrome

Indexed keywords

ARTICLE; CDKL5 GENE; CELL DIFFERENTIATION; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; IN VITRO STUDY; KARYOTYPE; MALE; NERVE CELL; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; SEIZURE; X CHROMOSOME INACTIVATION;

EID: 81455141449     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.131     Document Type: Article
Times cited : (73)

References (44)
  • 1
    • 35648978121 scopus 로고    scopus 로고
    • The story of Rett syndrome: From clinic to neurobiology
    • Chahrour M, Zoghbi HY: The story of Rett syndrome: from clinic to neurobiology. Neuron 2007; 56: 422-437.
    • (2007) Neuron , vol.56 , pp. 422-437
    • Chahrour, M.1    Zoghbi, H.Y.2
  • 2
    • 0028111560 scopus 로고
    • Rett variants: A suggested model for inclusion criteria
    • Hagberg BA, Skjeldal OH: Rett variants: a suggested model for inclusion criteria. Pediatr Neurol 1994; 11: 5-11.
    • (1994) Pediatr. Neurol. , vol.11 , pp. 5-11
    • Hagberg, B.A.1    Skjeldal, O.H.2
  • 3
    • 0022005250 scopus 로고
    • Rett syndrome: Report of eight cases
    • Rolando S: Rett syndrome: report of eight cases. Brain Dev 1985; 7: 290-296.
    • (1985) Brain Dev. , vol.7 , pp. 290-296
    • Rolando, S.1
  • 4
    • 0021926093 scopus 로고
    • The clinical pattern of the Rett syndrome
    • Hanefeld F: The clinical pattern of the Rett syndrome. Brain Dev 1985; 7: 320-325.
    • (1985) Brain Dev. , vol.7 , pp. 320-325
    • Hanefeld, F.1
  • 5
    • 0031443353 scopus 로고    scopus 로고
    • The preserved speech variant of the Rett complex: A report of 8 cases
    • Zappella M: The preserved speech variant of the Rett complex: a report of 8 cases. Eur Child Adolesc Psychiatry 1997; 6: 23-25.
    • (1997) Eur. Child Adolesc. Psychiatry , vol.6 , pp. 23-25
    • Zappella, M.1
  • 6
    • 13444263520 scopus 로고    scopus 로고
    • CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
    • Scala E, Ariani F, Mari F et al: CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 2005; 42: 103-107.
    • (2005) J. Med. Genet. , vol.42 , pp. 103-107
    • Scala, E.1    Ariani, F.2    Mari, F.3
  • 7
    • 46149122036 scopus 로고    scopus 로고
    • FOXG1 is responsible for the congenital variant of Rett syndrome
    • Ariani F, Hayek G, Rondinella D et al: FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008; 83: 89-93.
    • (2008) Am. J. Hum. Genet. , vol.83 , pp. 89-93
    • Ariani, F.1    Hayek, G.2    Rondinella, D.3
  • 9
    • 45849105557 scopus 로고    scopus 로고
    • MeCP2 a key contributor to neurological disease activates and represses transcription
    • Chahrour M, Jung SY, Shaw C et al: MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 2008; 320: 1224-1229.
    • (2008) Science , vol.320 , pp. 1224-1229
    • Chahrour, M.1    Jung, S.Y.2    Shaw, C.3
  • 10
    • 0035094767 scopus 로고    scopus 로고
    • A mouse mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
    • Guy J, Hendrich B, Holmes M, Martin JE, Bird A: A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 2001; 27: 322-326.
    • (2001) Nat. Genet. , vol.27 , pp. 322-326
    • Guy, J.1    Hendrich, B.2    Holmes, M.3    Martin, J.E.4    Bird, A.5
  • 11
    • 0035093830 scopus 로고    scopus 로고
    • Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
    • Chen RZ, Akbarian S, Tudor M, Jaenisch R: Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 2001; 27: 327-331.
    • (2001) Nat. Genet. , vol.27 , pp. 327-331
    • Chen, R.Z.1    Akbarian, S.2    Tudor, M.3    Jaenisch, R.4
  • 12
    • 0037130455 scopus 로고    scopus 로고
    • Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3
    • Shahbazian M, Young J, Yuva-Paylor L et al: Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 2002; 35: 234-254.
    • (2002) Neuron , vol.35 , pp. 234-254
    • Shahbazian, M.1    Young, J.2    Yuva-Paylor, L.3
  • 13
    • 34748831111 scopus 로고    scopus 로고
    • MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number
    • Chao HT, Zoghbi HY, Rosenmund C: MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron 2007; 56: 58-65.
    • (2007) Neuron , vol.56 , pp. 58-65
    • Chao, H.T.1    Zoghbi, H.Y.2    Rosenmund, C.3
  • 14
    • 36248966518 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from adult human fibroblasts by defined factors
    • Takahashi K, Tanabe K, Ohnuki 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
  • 15
    • 77953879152 scopus 로고    scopus 로고
    • Pluripotent stem cells in neurodegenerative and neurodevelopmental diseases
    • Marchetto MC, Winner B, Gage FH: Pluripotent stem cells in neurodegenerative and neurodevelopmental diseases. Hum Mol Genet 2010; 19: R71-R76.
    • (2010) Hum. Mol. Genet. , vol.19
    • Marchetto, M.C.1    Winner, B.2    Gage, F.H.3
  • 16
    • 78049303170 scopus 로고    scopus 로고
    • Induced pluripotent stem cell models of the genomic imprinting disorders angelman and prader-willi syndromes
    • USA
    • Chamberlain SJ, Chen PF, Ng KY et al: Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes. Proc Natl Acad Sci USA 2010; 107: 17668-17673.
    • (2010) Proc. Natl. Acad. Sci. , vol.107 , pp. 17668-17673
    • Chamberlain, S.J.1    Chen, P.F.2    Ng, K.Y.3
  • 17
    • 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 GQ, 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
  • 18
    • 78149488365 scopus 로고    scopus 로고
    • A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells
    • Marchetto MC, Carromeu C, Acab A 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
  • 19
    • 26444495179 scopus 로고    scopus 로고
    • CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
    • Mari F, Azimonti S, Bertani I et al: CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 2005; 14: 1935-1946.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 1935-1946
    • Mari, F.1    Azimonti, S.2    Bertani, I.3
  • 20
    • 57649148768 scopus 로고    scopus 로고
    • CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail
    • Rusconi L, Salvatoni L, Giudici L et al: CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. J Biol Chem 2008; 283: 30101-30111.
    • (2008) J. Biol. Chem. , vol.283 , pp. 30101-30111
    • Rusconi, L.1    Salvatoni, L.2    Giudici, L.3
  • 21
    • 33845988053 scopus 로고    scopus 로고
    • Functional consequences of mutations in CDKL5 an X-linked gene involved in infantile spasms and mental retardation
    • Bertani I, Rusconi L, Bolognese F et al: Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. J Biol Chem 2006; 281: 32048-32056.
    • (2006) J. Biol. Chem. , vol.281 , pp. 32048-32056
    • Bertani, I.1    Rusconi, L.2    Bolognese, F.3
  • 22
  • 23
    • 56349150405 scopus 로고    scopus 로고
    • Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1
    • Kameshita I, Sekiguchi M, Hamasaki D et al: Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1. Biochem Biophys Res Commun 2008; 377: 1162-1167.
    • (2008) Biochem. Biophys. Res. Commun. , vol.377 , pp. 1162-1167
    • Kameshita, I.1    Sekiguchi, M.2    Hamasaki, D.3
  • 24
    • 77957196807 scopus 로고    scopus 로고
    • CDKL5 a protein associated with Rett syndrome regulates neuronal morphogenesis via Rac1 signaling
    • Chen Q, Zhu YC, Yu J et al: CDKL5, a protein associated with Rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. J Neurosci 2010; 30: 12777-12786.
    • (2010) J. Neurosci. , vol.30 , pp. 12777-12786
    • Chen, Q.1    Zhu, Y.C.2    Yu, J.3
  • 26
    • 65449121435 scopus 로고    scopus 로고
    • Isolation of human iPS cells using EOS lentiviral vectors to select for pluripotency
    • Hotta A, Cheung AY, Farra N, et al: Isolation of human iPS cells using EOS lentiviral vectors to select for pluripotency. Nat Methods 2009; 6: 370-376.
    • (2009) Nat. Methods , vol.6 , pp. 370-376
    • Hotta, A.1    Cheung, A.Y.2    Farra, N.3
  • 27
    • 0026678490 scopus 로고
    • Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human adrogen-recetor gene correlates with X chromosome inactivation
    • Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW: Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human adrogen-recetor gene correlates with X chromosome inactivation. Am J Hum Genet 1992; 51: 1229-1239.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 28
    • 34547102737 scopus 로고    scopus 로고
    • Directed neural differentiation of human embryonic stem cells via an obligated primitive anterior stage
    • Pankratz MT, Li XJ, Lavaute TM, Lyons EA, Chen X, Zhang SC: Directed neural differentiation of human embryonic stem cells via an obligated primitive anterior stage. Stem Cells 2007; 25: 1511-1520.
    • (2007) Stem. Cells , vol.25 , pp. 1511-1520
    • Pankratz, M.T.1    Li, X.J.2    Lavaute, T.M.3    Lyons, E.A.4    Chen, X.5    Zhang, S.C.6
  • 29
    • 70450159769 scopus 로고    scopus 로고
    • Coordination of sonic hedgehog and Wnt signaling determines ventral and dorsal telencephalic neuron types from human embryonic stem cells
    • Li XJ, Zhang X, Johnson MA, Wang ZB, Lavaute T, Zhang SC: Coordination of sonic hedgehog and Wnt signaling determines ventral and dorsal telencephalic neuron types from human embryonic stem cells. Development 2009; 136: 4055-4063.
    • (2009) Development , vol.136 , pp. 4055-4063
    • Li, X.J.1    Zhang, X.2    Johnson, M.A.3    Wang, Z.B.4    Lavaute, T.5    Zhang, S.C.6
  • 30
    • 60849112238 scopus 로고    scopus 로고
    • The XLMR gene ACSL4 plays a role in dendritic spine architecture
    • Meloni I, Parri V, De Filippis R et al: The XLMR gene ACSL4 plays a role in dendritic spine architecture. Neuroscience 2009; 159: 657-669.
    • (2009) Neuroscience , vol.159 , pp. 657-669
    • Meloni, I.1    Parri, V.2    De Filippis, R.3
  • 31
    • 71849094595 scopus 로고    scopus 로고
    • Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria
    • Artuso R: Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain Dev 2010; 32: 17-24.
    • (2010) Brain Dev. , vol.32 , pp. 17-24
    • Artuso, R.1
  • 32
    • 54049089062 scopus 로고    scopus 로고
    • CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy
    • Elia M, Falco M, Ferri R et al: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 2008; 71: 997-999.
    • (2008) Neurology , vol.71 , pp. 997-999
    • Elia, M.1    Falco, M.2    Ferri, R.3
  • 33
    • 78650971216 scopus 로고    scopus 로고
    • Dynamic changes in the copy number of pluripotency and cell proliferation genes in human ESCs and IPSCs during reprogramming and time in culture
    • Laurent C: Dynamic changes in the copy number of pluripotency and cell proliferation genes in human ESCs and IPSCs during reprogramming and time in culture. Cell Stem Cell 2011; 8: 106-118.
    • (2011) Cell Stem. Cell , vol.8 , pp. 106-118
    • Laurent, C.1
  • 34
    • 79952126043 scopus 로고    scopus 로고
    • Copy number variation and selection during reprogramming to pluripotency
    • Hussein M: Copy number variation and selection during reprogramming to pluripotency. Nature 2011; 471: 58-62.
    • (2011) Nature , vol.471 , pp. 58-62
    • Hussein, M.1
  • 35
    • 0031811256 scopus 로고    scopus 로고
    • Regulation of X-chromosome inactivation in development in mice and humans
    • Goto T, Monk M: Regulation of X-chromosome inactivation in development in mice and humans. Microbiol Mol Biol Rev 1998; 62: 362-378.
    • (1998) Microbiol. Mol. Biol. Rev. , vol.62 , pp. 362-378
    • Goto, T.1    Monk, M.2
  • 36
    • 66049117813 scopus 로고    scopus 로고
    • Naive and primed pluripotent states
    • Nichols J, Smith A: Naive and primed pluripotent states. Cell Stem Cell 2009; 4: 487-492.
    • (2009) Cell Stem. Cell , vol.4 , pp. 487-492
    • Nichols, J.1    Smith, A.2
  • 37
    • 34249909232 scopus 로고    scopus 로고
    • Directly reprogrammed fibroblasts show global epigenetic remodeling and widespread tissue contribution
    • Maherali N, Sridharan R, Xie W et al: Directly reprogrammed fibroblasts show global epigenetic remodeling and widespread tissue contribution. Cell Stem Cell 2007; 1: 55-70.
    • (2007) Cell Stem. Cell , vol.1 , pp. 55-70
    • Maherali, N.1    Sridharan, R.2    Xie, W.3
  • 38
    • 44449159596 scopus 로고    scopus 로고
    • X-inactivation reveals epigenetic anomalies in most hESC but identifies sublines that initiate as expected
    • Hall LL, Byron M, Butler J et al: X-inactivation reveals epigenetic anomalies in most hESC but identifies sublines that initiate as expected. J Cell Physiol 2008; 216: 445-452.
    • (2008) J. Cell Physiol. , vol.216 , pp. 445-452
    • Hall, L.L.1    Byron, M.2    Butler, J.3
  • 39
    • 77956222202 scopus 로고    scopus 로고
    • Female human iPSCs retain an inactive X chromosome
    • Tchieu J, Kuoy E, Chin MH et al: Female human iPSCs retain an inactive X chromosome. Cell Stem Cell 2010; 7: 329-342.
    • (2010) Cell Stem. Cell , vol.7 , pp. 329-342
    • Tchieu, J.1    Kuoy, E.2    Chin, M.H.3
  • 40
    • 79955602167 scopus 로고    scopus 로고
    • Isolation of MECP2-null rett syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation
    • Cheung AY: 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
  • 41
    • 0035200623 scopus 로고    scopus 로고
    • In vitro differentiation of transplantable neural precursors from human embryonic stem cells
    • Zhang SC, Wernig M, Duncan ID, Brustle O, Thomson JA: In vitro differentiation of transplantable neural precursors from human embryonic stem cells. Nat Biotechnol 2001; 19: 1129-1133.
    • (2001) Nat. Biotechnol. , vol.19 , pp. 1129-1133
    • Zhang, S.C.1    Wernig, M.2    Duncan, I.D.3    Brustle, O.4    Thomson, J.A.5
  • 42
    • 77749279749 scopus 로고    scopus 로고
    • Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency
    • USA
    • Hu BY, Weick JP, Yu J et al: Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency. Proc Natl Acad Sci USA 2010; 107: 4335-4340.
    • (2010) Proc. Natl. Acad. Sci. , vol.107 , pp. 4335-4340
    • Hu, B.Y.1    Weick, J.P.2    Yu, J.3
  • 43
    • 79952292990 scopus 로고    scopus 로고
    • Cell-surface marker signatures for the isolation of neural stem cells glia and neurons derived from human pluripotent stem cells
    • Yuan S: Cell-surface marker signatures for the isolation of neural stem cells, glia and neurons derived from human pluripotent stem cells. PLoS ONE 2011; 6: e17540.
    • (2011) PLoS One , vol.6
    • Yuan, S.1
  • 44
    • 33750728409 scopus 로고    scopus 로고
    • Stem cells: The good bad and barely in control
    • Carson CT, Aigner S, Gage FH: Stem cells: The good, bad and barely in control. Nat Med 2006; 12: 1237-1238.
    • (2006) Nat. Med. , vol.12 , pp. 1237-1238
    • Carson, C.T.1    Aigner, S.2    Gage, F.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.