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Volumn 22, Issue 5, 2012, Pages 859-865

Interneuron, interrupted: Molecular pathogenesis of ARX mutations and X-linked infantile spasms

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EID: 84868203852     PISSN: 09594388     EISSN: 18736882     Source Type: Journal    
DOI: 10.1016/j.conb.2012.04.006     Document Type: Review
Times cited : (59)

References (45)
  • 1
    • 81855224646 scopus 로고    scopus 로고
    • Genetic and biologic classification of infantile spasms
    • Paciorkowski A.R., Thio L.L., Dobyns W.B. Genetic and biologic classification of infantile spasms. Pediatr Neurol 2011, 45:355-367.
    • (2011) Pediatr Neurol , vol.45 , pp. 355-367
    • Paciorkowski, A.R.1    Thio, L.L.2    Dobyns, W.B.3
  • 2
    • 33646090860 scopus 로고    scopus 로고
    • Therapeutic efficacy and adverse effects of adrenocorticotropic hormone therapy in west syndrome: differences in dosage of adrenocorticotropic hormone, onset of age, and cause
    • Hamano S.-I., Yamashita S., Tanaka M., Yoshinari S., Minamitani M., Eto Y. Therapeutic efficacy and adverse effects of adrenocorticotropic hormone therapy in west syndrome: differences in dosage of adrenocorticotropic hormone, onset of age, and cause. J Pediatr 2006, 148:485-488.
    • (2006) J Pediatr , vol.148 , pp. 485-488
    • Hamano, S.-I.1    Yamashita, S.2    Tanaka, M.3    Yoshinari, S.4    Minamitani, M.5    Eto, Y.6
  • 3
    • 40349108589 scopus 로고    scopus 로고
    • Major adverse events associated with treatment of infantile spasms
    • Partikian A., Mitchell W.G. Major adverse events associated with treatment of infantile spasms. J Child Neurol 2007, 22:1360-1366.
    • (2007) J Child Neurol , vol.22 , pp. 1360-1366
    • Partikian, A.1    Mitchell, W.G.2
  • 7
    • 44949208631 scopus 로고    scopus 로고
    • Corticosteroids including ACTH for childhood epilepsy other than epileptic spasms
    • Gayatri N.A., Ferrie C.D., Cross H. Corticosteroids including ACTH for childhood epilepsy other than epileptic spasms. Cochrane Database Syst Rev 2007, 10.1002/14651858.CD005222.pub2.
    • (2007) Cochrane Database Syst Rev
    • Gayatri, N.A.1    Ferrie, C.D.2    Cross, H.3
  • 10
    • 0036020705 scopus 로고    scopus 로고
    • Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
    • Strømme P., Mangelsdorf M.E., Scheffer I.E., Gécz J. Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain Dev 2002, 24:266-268.
    • (2002) Brain Dev , vol.24 , pp. 266-268
    • Strømme, P.1    Mangelsdorf, M.E.2    Scheffer, I.E.3    Gécz, J.4
  • 12
    • 0036837658 scopus 로고    scopus 로고
    • Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identicalARX gene mutation
    • Turner G., Partington M., Kerr B., Mangelsdorf M., Gécz J. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identicalARX gene mutation. Am J Med Genet 2002, 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    Gécz, J.5
  • 15
    • 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., Kitamura K. Expression of a novel aristaless related homeobox gene "Arx" in the vertebrate telencephalon, diencephalon and floor plate. Mech Dev 1997, 65:99-109.
    • (1997) Mech Dev , vol.65 , pp. 99-109
    • Miura, H.1    Yanazawa, M.2    Kato, K.3    Kitamura, K.4
  • 17
    • 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., Gcz J., Broccoli V. 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 2004, 231:631-639.
    • (2004) Dev Dyn , vol.231 , pp. 631-639
    • Colombo, E.1    Galli, R.2    Cossu, G.3    Gcz, J.4    Broccoli, V.5
  • 21
    • 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.R., Broccoli V. 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 2007, 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.R.7    Broccoli, V.8
  • 23
    • 34250174769 scopus 로고    scopus 로고
    • Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene
    • Shoubridge C., Cloosterman D., Parkinson Lawerence E., Brooks D., Gécz J. Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. Genomics 2007, 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
  • 24
    • 67749110260 scopus 로고    scopus 로고
    • The roles of multiple importins for nuclear import of murine aristaless-related homeobox protein
    • Lin W., Ye W., Cai L., Meng X., Ke G., Huang C., Peng Z., Yu Y., Golden J.A., Tartakoff A.M., et al. The roles of multiple importins for nuclear import of murine aristaless-related homeobox protein. J Biol Chem 2009, 284:20428-20439.
    • (2009) J Biol Chem , vol.284 , pp. 20428-20439
    • Lin, W.1    Ye, W.2    Cai, L.3    Meng, X.4    Ke, G.5    Huang, C.6    Peng, Z.7    Yu, Y.8    Golden, J.A.9    Tartakoff, A.M.10
  • 25
    • 77953380214 scopus 로고    scopus 로고
    • Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division
    • Shoubridge C., Tan M., Fullston T., Cloosterman D., Coman D., McGillivray G., Mancini G.M., Kleefstra T., Gécz J. Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division. Pathogenetics 2010, 3:1.
    • (2010) Pathogenetics , vol.3 , pp. 1
    • Shoubridge, C.1    Tan, M.2    Fullston, T.3    Cloosterman, D.4    Coman, D.5    McGillivray, G.6    Mancini, G.M.7    Kleefstra, T.8    Gécz, J.9
  • 27
    • 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., Broccoli V. Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity. Dev Biol 2009, 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
  • 28
    • 84858228881 scopus 로고    scopus 로고
    • ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression
    • Shoubridge C., Tan M.H., Seiboth G., Gécz J. ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression. Hum Mol Genet 2011, 10.1093/hmg/ddr601.
    • (2011) Hum Mol Genet
    • Shoubridge, C.1    Tan, M.H.2    Seiboth, G.3    Gécz, J.4
  • 29
    • 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., Golden J.A. A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. J Cell Biol 2004, 167:411-416.
    • (2004) J Cell Biol , vol.167 , pp. 411-416
    • Nasrallah, I.M.1    Minarcik, J.C.2    Golden, J.A.3
  • 31
    • 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., Noebels J.L. 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 2009, 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, J.D.6    Noebels, J.L.7
  • 32
    • 84856959290 scopus 로고    scopus 로고
    • Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression
    • Nasrallah M.P., Cho G., Putt M.E., Kitamura K., Golden J.A. Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression. Hum Mol Genet 2011, 10.1093/hmg/ddr538.
    • (2011) Hum Mol Genet
    • Nasrallah, M.P.1    Cho, G.2    Putt, M.E.3    Kitamura, K.4    Golden, J.A.5
  • 33
    • 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., Broccoli V. Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor. NSC 2007, 146:236-247.
    • (2007) NSC , 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
  • 34
    • 84861305966 scopus 로고    scopus 로고
    • Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations
    • Cho G., Nasrallah M.P., Lim Y., Golden J.A. Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations. Neurogenetics 2012, 10.1007/s10048-011-0304-7.
    • (2012) Neurogenetics
    • Cho, G.1    Nasrallah, M.P.2    Lim, Y.3    Golden, J.A.4
  • 35
    • 79952749335 scopus 로고    scopus 로고
    • Caenorhabditis elegans aristaless/Arx gene alr-1 restricts variable gene expression
    • Topalidou I., van Oudenaarden A., Chalfie M. Caenorhabditis elegans aristaless/Arx gene alr-1 restricts variable gene expression. Proc Natl Acad Sci USA 2011, 108:4063-4068.
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. 4063-4068
    • Topalidou, I.1    van Oudenaarden, A.2    Chalfie, M.3
  • 37
    • 34248220063 scopus 로고    scopus 로고
    • CXC chemokine receptor 4 regulates neuronal migration and axonal pathfinding in the developing nervous system: implications for neuronal regeneration in the adult brain
    • Stumm R., Hollt V. CXC chemokine receptor 4 regulates neuronal migration and axonal pathfinding in the developing nervous system: implications for neuronal regeneration in the adult brain. J Mol Endocrinol 2007, 38:377-382.
    • (2007) J Mol Endocrinol , vol.38 , pp. 377-382
    • Stumm, R.1    Hollt, V.2
  • 38
    • 37149006979 scopus 로고    scopus 로고
    • Stromal-derived factor 1 signalling regulates radial and tangential migration in the developing cerebral cortex
    • Liapi A., Pritchett J., Jones O., Fujii N., Parnavelas J.G., Nadarajah B. Stromal-derived factor 1 signalling regulates radial and tangential migration in the developing cerebral cortex. Dev Neurosci 2008, 30:117-131.
    • (2008) Dev Neurosci , vol.30 , pp. 117-131
    • Liapi, A.1    Pritchett, J.2    Jones, O.3    Fujii, N.4    Parnavelas, J.G.5    Nadarajah, B.6
  • 39
    • 78349270149 scopus 로고    scopus 로고
    • CXCR4 is required for proper regional and laminar distribution of cortical somatostatin-, calretinin-, and neuropeptide Y-expressing GABAergic interneurons
    • Tanaka D.H., Mikami S., Nagasawa T., Miyazaki J.I., Nakajima K., Murakami F. CXCR4 is required for proper regional and laminar distribution of cortical somatostatin-, calretinin-, and neuropeptide Y-expressing GABAergic interneurons. Cereb Cortex 2010, 20:2810-2817.
    • (2010) Cereb Cortex , vol.20 , pp. 2810-2817
    • Tanaka, D.H.1    Mikami, S.2    Nagasawa, T.3    Miyazaki, J.I.4    Nakajima, K.5    Murakami, F.6
  • 43
    • 67649391197 scopus 로고    scopus 로고
    • Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females
    • Marsh E., Fulp C., Gomez E., Nasrallah I., Minarcik J., Sudi J., Christian S.L., Mancini G., Labosky P., Dobyns W., et al. Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Brain 2009, 132:1563-1576.
    • (2009) Brain , vol.132 , pp. 1563-1576
    • Marsh, E.1    Fulp, C.2    Gomez, E.3    Nasrallah, I.4    Minarcik, J.5    Sudi, J.6    Christian, S.L.7    Mancini, G.8    Labosky, P.9    Dobyns, W.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.