메뉴 건너뛰기




Volumn 4, Issue MAR, 2010, Pages

Mutations in ARX result in several defects involving GABAergic neurons

Author keywords

ARX; Basal ganglia; Epilepsy; GABA; Interneurons; Lissencephaly; Neuronal migration

Indexed keywords


EID: 77953376969     PISSN: 16625102     EISSN: None     Source Type: Journal    
DOI: 10.3389/fncel.2010.00004     Document Type: Article
Times cited : (85)

References (87)
  • 1
    • 77955069557 scopus 로고    scopus 로고
    • A novel ARX phenotype: Rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder
    • [Epub ahead of print]
    • Absoud, M., Parr, J. R., Halliday, D., Pretorius, P., Zaiwalla, Z., and Jayawant, S. (2009). A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder. Dev. Med. Child. Neurol. [Epub ahead of print].
    • (2009) Dev. Med. Child. Neurol
    • Absoud, M.1    Parr, J.R.2    Halliday, D.3    Pretorius, P.4    Zaiwalla, Z.5    Jayawant, S.6
  • 2
    • 19444364594 scopus 로고    scopus 로고
    • The other trinucleotide repeat: Polyalanine expansion disorders
    • Albrecht, A., and Mundlos, S. (2005). The other trinucleotide repeat: polyalanine expansion disorders. Curr. Opin. Genet. Dev. 15, 285-293.
    • (2005) Curr. Opin. Genet. Dev , vol.15 , pp. 285-293
    • Albrecht, A.1    Mundlos, S.2
  • 3
    • 33846040831 scopus 로고    scopus 로고
    • Trekking across the brain: The journey of neuronal migration
    • Ayala, R., Shu, T., and Tsai, L. H. (2007). Trekking across the brain: the journey of neuronal migration. Cell 128, 29-43.
    • (2007) Cell , vol.128 , pp. 29-43
    • Ayala, R.1    Shu, T.2    Tsai, L.H.3
  • 8
    • 0035464960 scopus 로고    scopus 로고
    • Monogenic causes of X-linked mental retardation
    • Chelly, J., and Mandel, J. L. (2001). Monogenic causes of X-linked mental retardation. Nat. Rev. Genet. 2, 669-680.
    • (2001) Nat. Rev. Genet , vol.2 , pp. 669-680
    • Chelly, J.1    Mandel, J.L.2
  • 9
    • 57849117430 scopus 로고    scopus 로고
    • Rac1 defi- ciency in the forebrain results in neural progenitor reduction and microcephaly
    • Chen, L., Melendez, J., Campbell, K., Kuan, C. Y., and Zheng, Y. (2009). Rac1 defi- ciency in the forebrain results in neural progenitor reduction and microcephaly. Dev. Biol. 325, 162-170.
    • (2009) Dev. Biol , vol.325 , pp. 162-170
    • Chen, L.1    Melendez, J.2    Campbell, K.3    Kuan, C.Y.4    Zheng, Y.5
  • 10
    • 13244253699 scopus 로고    scopus 로고
    • The vertebrate ortholog of Aristaless is regulated by Dlx genes in the developing forebrain
    • Cobos, I., Broccoli, V., and Rubenstein, J. L. (2005). The vertebrate ortholog of Aristaless is regulated by Dlx genes in the developing forebrain. J. Comp. Neurol. 483, 292-303.
    • (2005) J. Comp. Neurol , vol.483 , pp. 292-303
    • Cobos, I.1    Broccoli, V.2    Rubenstein, J.L.3
  • 12
    • 69949134504 scopus 로고    scopus 로고
    • Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity
    • Colasante, G., Sessa, A., Crispi, S., Calogero, R., Mansouri, A., Collombat, P., and Broccoli, V. (2009). Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity. Dev. Biol. 334, 59-71.
    • (2009) Dev. Biol , vol.334 , pp. 59-71
    • Colasante, G.1    Sessa, A.2    Crispi, S.3    Calogero, R.4    Mansouri, A.5    Collombat, P.6    Broccoli, V.7
  • 14
    • 34247474911 scopus 로고    scopus 로고
    • Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation
    • Colombo, E., Collombat, P., Colasante, G., Bianchi, M., Long, J., Mansouri, A., Rubenstein, J. L., and Broccoli, V. (2007). Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation. J. Neurosci. 27, 4786-4798.
    • (2007) J. Neurosci , vol.27 , pp. 4786-4798
    • Colombo, E.1    Collombat, P.2    Colasante, G.3    Bianchi, M.4    Long, J.5    Mansouri, A.6    Rubenstein, J.L.7    Broccoli, V.8
  • 15
    • 6944226376 scopus 로고    scopus 로고
    • Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons
    • Colombo, E., Galli, R., Cossu, G., Gécz, J., and Broccoli, V. (2004). Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons. Dev. Dyn. 231, 631-639.
    • (2004) Dev. Dyn , vol.231 , pp. 631-639
    • Colombo, E.1    Galli, R.2    Cossu, G.3    Gécz, J.4    Broccoli, V.5
  • 16
    • 67649870497 scopus 로고    scopus 로고
    • Clinical study of two brothers with a novel 33 bp duplication in the ARX gene
    • Demos, M. K., Fullston, T., Partington, M. W., Gécz, J., and Gibson, W. T. (2009). Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. Am. J. Med. Genet. A 149A, 1482-1486.
    • (2009) Am. J. Med. Genet. A , vol.149 A , pp. 1482-1486
    • Demos, M.K.1    Fullston, T.2    Partington, M.W.3    Gécz, J.4    Gibson, W.T.5
  • 19
    • 0034782066 scopus 로고    scopus 로고
    • What is West syndrome?
    • Dulac, O. (2001). What is West syndrome? Brain Dev. 23, 447-452.
    • (2001) Brain Dev , vol.23 , pp. 447-452
    • Dulac, O.1
  • 22
    • 0036838082 scopus 로고    scopus 로고
    • Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome
    • Frints, S. G., Froyen, G., Marynen, P., Willekens, D., Legius, E., and Fryns, J. P. (2002). Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. Am. J. Med. Genet. 112, 427-428.
    • (2002) Am. J. Med. Genet , vol.112 , pp. 427-428
    • Frints, S.G.1    Froyen, G.2    Marynen, P.3    Willekens, D.4    Legius, E.5    Fryns, J.P.6
  • 24
    • 34147109177 scopus 로고    scopus 로고
    • Both doublecortin and doublecortin- like kinase play a role in cortical interneuron migration
    • Friocourt, G., Liu, J. S., Antypa, M., Rakic, S., Walsh, C. A., and Parnavelas, J. G. (2007). Both doublecortin and doublecortin- like kinase play a role in cortical interneuron migration. J. Neurosci. 27, 3875-3883.
    • (2007) J. Neurosci , vol.27 , pp. 3875-3883
    • Friocourt, G.1    Liu, J.S.2    Antypa, M.3    Rakic, S.4    Walsh, C.A.5    Parnavelas, J.G.6
  • 26
    • 54849430923 scopus 로고    scopus 로고
    • The function of the Aristalessrelated homeobox (Arx) gene product as a transcriptional repressor is diminished by mutations associated with Xlinked mental retardation (XLMR)
    • Fullenkamp, A. N., and El-Hodiri, H. M. (2008). The function of the Aristalessrelated homeobox (Arx) gene product as a transcriptional repressor is diminished by mutations associated with Xlinked mental retardation (XLMR). Biochem. Biophys. Res. Commun. 377, 73-78.
    • (2008) Biochem. Biophys. Res. Commun , vol.377 , pp. 73-78
    • Fullenkamp, A.N.1    El-Hodiri, H.M.2
  • 28
    • 56049110230 scopus 로고    scopus 로고
    • Identification of Arx transcriptional targets in the developing basal forebrain
    • Fulp, C. T., Cho, G., Marsh, E. D., Nasrallah, I. M., Labosky, P. A., and Golden, J. A. (2008). Identification of Arx transcriptional targets in the developing basal forebrain. Hum. Mol. Genet. 17, 3740-3760.
    • (2008) Hum. Mol. Genet , vol.17 , pp. 3740-3760
    • Fulp, C.T.1    Cho, G.2    Marsh, E.D.3    Nasrallah, I.M.4    Labosky, P.A.5    Golden, J.A.6
  • 29
    • 0033621539 scopus 로고    scopus 로고
    • Origin of anterior patterning. How old is our head?
    • Galliot, B., and Miller, D. (2000). Origin of anterior patterning. How old is our head? Trends Genet. 16, 1-5.
    • (2000) Trends Genet , vol.16 , pp. 1-5
    • Galliot, B.1    Miller, D.2
  • 30
    • 0347519182 scopus 로고    scopus 로고
    • Ebf gene function is required for coupling neuronal differentiation and cell cycle exit
    • Garcia-Dominguez, M., Poquet, C., Garel, S., and Charnay, P. (2003). Ebf gene function is required for coupling neuronal differentiation and cell cycle exit. Development 130, 6013-6025.
    • (2003) Development , vol.130 , pp. 6013-6025
    • Garcia-Dominguez, M.1    Poquet, C.2    Garel, S.3    Charnay, P.4
  • 32
    • 67649921127 scopus 로고    scopus 로고
    • The genetic landscape of intellectual disability arising from chromosome X
    • Gécz, J., Shoubridge, C., and Corbett, M. (2009). The genetic landscape of intellectual disability arising from chromosome X. Trends Genet. 25, 308-316.
    • (2009) Trends Genet , vol.25 , pp. 308-316
    • Gécz, J.1    Shoubridge, C.2    Corbett, M.3
  • 35
    • 68049108924 scopus 로고    scopus 로고
    • Neuronal migration disorders
    • [Epub ahead of print]
    • Guerrini R., and Parrini E. (2009). Neuronal migration disorders. Neurobiol. Dis. [Epub ahead of print].
    • (2009) Neurobiol. Dis
    • Guerrini, R.1    Parrini, E.2
  • 36
    • 3242712257 scopus 로고    scopus 로고
    • Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene
    • Hartmann, H., Uyanik, G., Gross, C., Hehr, U., Lücke, T., Arslan-Kirchner, M., Antosch, B., Das, A. M., and Winkler, J. (2004). Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene. Neuropediatrics 35, 157-160.
    • (2004) Neuropediatrics , vol.35 , pp. 157-160
    • Hartmann, H.1    Uyanik, G.2    Gross, C.3    Hehr, U.4    Lücke, T.5    Arslan-Kirchner, M.6    Antosch, B.7    Das, A.M.8    Winkler, J.9
  • 37
    • 34547624307 scopus 로고    scopus 로고
    • Neurotransmitters regulate cell migration in the telencephalon
    • Heng, J. I., Moonen, G., and Nguyen, L. (2007). Neurotransmitters regulate cell migration in the telencephalon. Eur. J. Neurosci. 26, 537-546.
    • (2007) Eur. J. Neurosci , vol.26 , pp. 537-546
    • Heng, J.I.1    Moonen, G.2    Nguyen, L.3
  • 42
    • 0038458487 scopus 로고    scopus 로고
    • Polyalanine expansion of ARX associated with cryptogenic West syndrome
    • Kato, M., Das, S., Petras, K., Sawaishi, Y., and Dobyns, WB. (2003). Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology 61, 267-276.
    • (2003) Neurology , vol.61 , pp. 267-276
    • Kato, M.1    Das, S.2    Petras, K.3    Sawaishi, Y.4    Dobyns, W.B.5
  • 43
    • 20044365419 scopus 로고    scopus 로고
    • Xlinked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: Proposal for a new term,interneuronopathy
    • Kato, M., and Dobyns, W. B. (2005). Xlinked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy". J. Child Neurol. 20, 392-397.
    • (2005) J. Child Neurol , vol.20 , pp. 392-397
    • Kato, M.1    Dobyns, W.B.2
  • 44
    • 34547812084 scopus 로고    scopus 로고
    • A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)
    • Kato, M., Saitoh, S., Kamei, A., Shiraishi, H., Ueda, Y., Akasaka, M., Tohyama, J., Akasaka, N., and Hayasaka, K. (2007). A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am. J. Hum. Genet. 81, 361-366.
    • (2007) Am. J. Hum. Genet , vol.81 , pp. 361-366
    • Kato, M.1    Saitoh, S.2    Kamei, A.3    Shiraishi, H.4    Ueda, Y.5    Akasaka, M.6    Tohyama, J.7    Akasaka, N.8    Hayasaka, K.9
  • 45
    • 30344457896 scopus 로고    scopus 로고
    • Cdk5 phosphorylates and stabilizes p27kip1 contributing to actin organization and cortical neuronal migration
    • Kawauchi, T., Chihama, K., Nabeshima, Y., and Hoshino, M. (2006). Cdk5 phosphorylates and stabilizes p27kip1 contributing to actin organization and cortical neuronal migration. Nat. Cell Biol. 8, 17-26.
    • (2006) Nat. Cell Biol , vol.8 , pp. 17-26
    • Kawauchi, T.1    Chihama, K.2    Nabeshima, Y.3    Hoshino, M.4
  • 49
    • 3042638932 scopus 로고    scopus 로고
    • Patterns of neuronal migration in the embryonic cortex
    • Kriegstein, A. R., and Noctor, S. C. (2004). Patterns of neuronal migration in the embryonic cortex. Trends Neurosci. 27, 392-399.
    • (2004) Trends Neurosci , vol.27 , pp. 392-399
    • Kriegstein, A.R.1    Noctor, S.C.2
  • 52
    • 33746315388 scopus 로고    scopus 로고
    • The multipolar stage and disruptions in neuronal migration
    • LoTurco, J. J., and Bai, J. (2006). The multipolar stage and disruptions in neuronal migration. Trends Neurosci. 29, 407-413.
    • (2006) Trends Neurosci , vol.29 , pp. 407-413
    • Loturco, J.J.1    Bai, J.2
  • 53
    • 0037826110 scopus 로고    scopus 로고
    • Cell migration in the forebrain
    • Marin, O., and Rubenstein, J. L. (2003). Cell migration in the forebrain. Annu. Rev. Neurosci. 26, 441-483.
    • (2003) Annu. Rev. Neurosci , vol.26 , pp. 441-483
    • Marin, O.1    Rubenstein, J.L.2
  • 55
    • 34247466477 scopus 로고    scopus 로고
    • Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor
    • McKenzie, O., Ponte, I., Mangelsdorf, M., Finnis, M., Colasante, G., Shoubridge, C., Stifani, S., Gécz, J., and Broccoli V. (2007). Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor. Neuroscience 146, 236-247.
    • (2007) Neuroscience , vol.146 , pp. 236-247
    • McKenzie, O.1    Ponte, I.2    Mangelsdorf, M.3    Finnis, M.4    Colasante, G.5    Shoubridge, C.6    Stifani, S.7    Gécz, J.8    Broccoli, V.9
  • 58
    • 33644751622 scopus 로고    scopus 로고
    • Cell and molecular mechanisms involved in the migration of cortical interneurons
    • Métin, C., Baudoin, J. P., Rakic, S. and Parnavelas, J. G. (2006). Cell and molecular mechanisms involved in the migration of cortical interneurons. Eur. J. Neurosci. 23, 894-900.
    • (2006) Eur. J. Neurosci , vol.23 , pp. 894-900
    • Métin, C.1    Baudoin, J.P.2    Rakic, S.3    Parnavelas, J.G.4
  • 59
    • 0031194810 scopus 로고    scopus 로고
    • Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate
    • Miura, H., Yanazawa, M., Kato, K., and Kitamura, K. (1997). Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate. Mech. Dev. 65, 99-109.
    • (1997) Mech. Dev , vol.65 , pp. 99-109
    • Miura, H.1    Yanazawa, M.2    Kato, K.3    Kitamura, K.4
  • 60
    • 0036594138 scopus 로고    scopus 로고
    • Modes of neuronal migration in the developing cerebral cortex
    • Nadarajah, B., and Parnavelas, J. G. (2002). Modes of neuronal migration in the developing cerebral cortex. Nat. Rev. Neurosci. 3, 423-432.
    • (2002) Nat. Rev. Neurosci , vol.3 , pp. 423-432
    • Nadarajah, B.1    Parnavelas, J.G.2
  • 61
    • 7444271413 scopus 로고    scopus 로고
    • Filamin A and FILIP (Filamin A-Interacting Protein) regulate cell polarity and motility in neocortical subventricular and intermediate zones during radial migration
    • Nagano, T., Morikubo, S., and Sato, M. (2004). Filamin A and FILIP (Filamin A-Interacting Protein) regulate cell polarity and motility in neocortical subventricular and intermediate zones during radial migration. J. Neurosci. 24, 9648-9657.
    • (2004) J. Neurosci , vol.24 , pp. 9648-9657
    • Nagano, T.1    Morikubo, S.2    Sato, M.3
  • 62
    • 8444221584 scopus 로고    scopus 로고
    • A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death
    • Nasrallah, I. M., Minarcik, J. C., and Golden, J. A. (2004). A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. J. Cell Biol. 167, 411-416.
    • (2004) J. Cell Biol , vol.167 , pp. 411-416
    • Nasrallah, I.M.1    Minarcik, J.C.2    Golden, J.A.3
  • 63
    • 0033840452 scopus 로고    scopus 로고
    • X-linked lissencephaly with ambiguous genitalia: Delineation of further case
    • Ogata, T., Matsuo, N., Hiraoka, N., and Hata, J. I. (2000). X-linked lissencephaly with ambiguous genitalia: delineation of further case. Am. J. Med. Genet. 94, 174-176.
    • (2000) Am. J. Med. Genet , vol.94 , pp. 174-176
    • Ogata, T.1    Matsuo, N.2    Hiraoka, N.3    Hata, J.I.4
  • 64
    • 51849093485 scopus 로고    scopus 로고
    • Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: Evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG)
    • Okazaki, S., Ohsawa, M., Kuki, I., Kawawaki, H., Koriyama, T., Ri, S., Ichiba, H., Hai, E., Inoue, T., Nakamura, H., Goto, Y., Tomiwa, K., Yamano, T., Kitamura, K., and Itoh, M. (2008). Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG). Acta Neuropathol. 116, 453-462.
    • (2008) Acta Neuropathol , vol.116 , pp. 453-462
    • Okazaki, S.1    Ohsawa, M.2    Kuki, I.3    Kawawaki, H.4    Koriyama, T.5    Ri, S.6    Ichiba, H.7    Hai, E.8    Inoue, T.9    Nakamura, H.10    Goto, Y.11    Tomiwa, K.12    Yamano, T.13    Kitamura, K.14    Itoh, M.15
  • 65
    • 3242704307 scopus 로고    scopus 로고
    • Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX
    • Partington, M. W., Turner, G., Boyle, J., and Gécz, J. (2004). Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX. Clin. Genet. 66, 39-45.
    • (2004) Clin. Genet , vol.66 , pp. 39-45
    • Partington, M.W.1    Turner, G.2    Boyle, J.3    Gécz, J.4
  • 66
    • 28944438404 scopus 로고    scopus 로고
    • Modulating Hox gene functions during animal body patterning
    • Pearson, J. C., Lemons, D., and McGinnis, W. (2005). Modulating Hox gene functions during animal body patterning. Nat. Rev. Genet. 6, 893-904.
    • (2005) Nat. Rev. Genet , vol.6 , pp. 893-904
    • Pearson, J.C.1    Lemons, D.2    McGinnis, W.3
  • 68
    • 67650478655 scopus 로고    scopus 로고
    • A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10 + 7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment
    • Price, M. G., Yoo, J. W., Burgess, D. L., Deng, F., Hrachovy, R. A., Frost, J. D. Jr., and Noebels, J. L. (2009). A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10 + 7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment. J. Neurosci. 29, 8752-8763.
    • (2009) J. Neurosci , vol.29 , pp. 8752-8763
    • Price, M.G.1    Yoo, J.W.2    Burgess, D.L.3    Deng, F.4    Hrachovy, R.A.5    Frost Jr., J.D.6    Noebels, J.L.7
  • 69
    • 0025096007 scopus 로고
    • Principles of neural cell migration
    • Rakic, P. (1990). Principles of neural cell migration. Experientia 46, 882-891.
    • (1990) Experientia , vol.46 , pp. 882-891
    • Rakic, P.1
  • 71
    • 68049097103 scopus 로고    scopus 로고
    • A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations
    • Reish, O., Fullston, T., Regev, M., Heyman, E., and Gecz, J. (2009). A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations. Am. J. Med. Genet. A 149A, 1655-1660.
    • (2009) Am. J. Med. Genet. A , vol.149 A , pp. 1655-1660
    • Reish, O.1    Fullston, T.2    Regev, M.3    Heyman, E.4    Gecz, J.5
  • 72
    • 18644384781 scopus 로고    scopus 로고
    • Trophic actions of GABA on neuronal development
    • Represa, A., and Ben-Ari, Y. (2005). Trophic actions of GABA on neuronal development. Trends Neurosci. 28, 278-283.
    • (2005) Trends Neurosci , vol.28 , pp. 278-283
    • Represa, A.1    Ben-Ari, Y.2
  • 73
    • 45949103263 scopus 로고    scopus 로고
    • Accurate balance of the polarity kinase MARK2/ Par-1 is required for proper cortical neuronal migration
    • Sapir, T., Sapoznik, S., Levy, T., Finkelshtein, D., Shmueli, A., Timm, T., Mandelkow, E. M., and Reiner, O. (2008). Accurate balance of the polarity kinase MARK2/ Par-1 is required for proper cortical neuronal migration. J. Neurosci. 28, 5710-5720.
    • (2008) J. Neurosci , vol.28 , pp. 5710-5720
    • Sapir, T.1    Sapoznik, S.2    Levy, T.3    Finkelshtein, D.4    Shmueli, A.5    Timm, T.6    Mandelkow, E.M.7    Reiner, O.8
  • 75
    • 12344318105 scopus 로고    scopus 로고
    • Xenopus aristaless-related homeobox (xARX) gene product functions as both a transcriptional activator and repressor in forebrain development
    • Seufert, D. W., Prescott, N. L., and El- Hodiri, H. M. (2005). Xenopus aristaless-related homeobox (xARX) gene product functions as both a transcriptional activator and repressor in forebrain development. Dev. Dyn. 232, 313-324.
    • (2005) Dev. Dyn , vol.232 , pp. 313-324
    • Seufert, D.W.1    Prescott, N.L.2    El-Hodiri, H.M.3
  • 76
    • 0345107244 scopus 로고    scopus 로고
    • The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): One gene leads to many phenotypes
    • Sherr, E. H. (2003). The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr. Opin. Pediatr. 15, 567-571.
    • (2003) Curr. Opin. Pediatr , vol.15 , pp. 567-571
    • Sherr, E.H.1
  • 77
    • 34250174769 scopus 로고    scopus 로고
    • Molecular pathology of expanded polyalanine tract mutations in the Aristalessrelated homeobox gene
    • Shoubridge, C., Cloosterman, D., Parkinson-Lawerence, E., Brooks, D., and Gécz, J. (2007). Molecular pathology of expanded polyalanine tract mutations in the Aristalessrelated homeobox gene. Genomics 90, 59-71.
    • (2007) Genomics , vol.90 , pp. 59-71
    • Shoubridge, C.1    Cloosterman, D.2    Parkinson-Lawerence, E.3    Brooks, D.4    Gécz, J.5
  • 78
    • 0036020705 scopus 로고    scopus 로고
    • Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene
    • Strømme, P., Mangelsdorf, M. E., Scheffer, I. E., and Gecz, J. (2002). Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain Dev. 24, 266-268.
    • (2002) ARX. Brain Dev , vol.24 , pp. 266-268
    • Strømme, P.1    Mangelsdorf, M.E.2    Scheffer, I.E.3    Gecz, J.4
  • 79
    • 0036337338 scopus 로고    scopus 로고
    • Ectopic expression of the Dlx genes induces glutamic acid decarboxylase and Dlx expression
    • Stuhmer, T., Anderson, S. A., Ekker, M., and Rubenstein, J. L. (2002). Ectopic expression of the Dlx genes induces glutamic acid decarboxylase and Dlx expression. Development 129, 245-252.
    • (2002) Development , vol.129 , pp. 245-252
    • Stuhmer, T.1    Anderson, S.A.2    Ekker, M.3    Rubenstein, J.L.4
  • 81
    • 0242442596 scopus 로고    scopus 로고
    • Multipolar migration: The third mode of radial neuronal migration in the developing cerebral cortex
    • Tabata, H., and Nakajima, K. (2003). Multipolar migration: the third mode of radial neuronal migration in the developing cerebral cortex. J. Neurosci. 23, 9996-10001.
    • (2003) J. Neurosci , vol.23 , pp. 9996-10001
    • Tabata, H.1    Nakajima, K.2
  • 82
    • 0036837658 scopus 로고    scopus 로고
    • Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
    • Turner, G., Partington, M., Kerr, B., Mangelsdorf, M., and Gecz, J. (2002). Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. Am. J. Med. Genet. 112, 405-411.
    • (2002) Am. J. Med. Genet , vol.112 , pp. 405-411
    • Turner, G.1    Partington, M.2    Kerr, B.3    Mangelsdorf, M.4    Gecz, J.5
  • 86
    • 38949214667 scopus 로고    scopus 로고
    • Homeobox genes in vertebrate forebrain development and disease
    • Wigle, J. T., and Eisenstat, D. D. (2008). Homeobox genes in vertebrate forebrain development and disease. Clin. Genet. 73, 212-226.
    • (2008) Clin. Genet , vol.73 , pp. 212-226
    • Wigle, J.T.1    Eisenstat, D.D.2
  • 87
    • 14844353579 scopus 로고    scopus 로고
    • Arx homeobox gene is essential for development of mouse olfactory system
    • Yoshihara, S., Omichi, K., Yanazawa, M., Kitamura, K., and Yoshihara, Y. (2005). Arx homeobox gene is essential for development of mouse olfactory system. Development 132, 751-762.
    • (2005) Development , vol.132 , pp. 751-762
    • Yoshihara, S.1    Omichi, K.2    Yanazawa, M.3    Kitamura, K.4    Yoshihara, Y.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.