메뉴 건너뛰기




Volumn 126, Issue 1, 2013, Pages 1-19

Fragile X-associated tremor/ataxia syndrome (FXTAS): Pathology and mechanisms

Author keywords

DGCR8; Fragile X; MicroRNA; Neurodegeneration; Premutation; RNA toxicity

Indexed keywords

MICRORNA; NUCLEAR PROTEIN;

EID: 84879068188     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-013-1138-1     Document Type: Review
Times cited : (135)

References (171)
  • 4
    • 28744442194 scopus 로고    scopus 로고
    • Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells
    • 10.1093/hmg/ddi394 16239243 1:CAS:528:DC%2BD2MXht1GgsrvI 10.1093/hmg/ddi394
    • Arocena DG, Iwahashi CK, Won N, Beilina A, Ludwig AL, Tassone F, Schwartz PH, Hagerman PJ (2005) Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum Mol Genet 14(23):3661-3671. doi: 10.1093/hmg/ddi394
    • (2005) Hum Mol Genet , vol.14 , Issue.23 , pp. 3661-3671
    • Arocena, D.G.1    Iwahashi, C.K.2    Won, N.3    Beilina, A.4    Ludwig, A.L.5    Tassone, F.6    Schwartz, P.H.7    Hagerman, P.J.8
  • 7
    • 84862200262 scopus 로고    scopus 로고
    • Drosophila Pur-alpha binds to trinucleotide-repeat containing cellular RNAs and translocates to the early oocyte
    • 10.4161/rna.19760 22614836 1:CAS:528:DC%2BC38Xht1SrtLfE 10.4161/rna.19760
    • Aumiller V, Graebsch A, Kremmer E, Niessing D, Forstemann K (2012) Drosophila Pur-alpha binds to trinucleotide-repeat containing cellular RNAs and translocates to the early oocyte. RNA Biol 9(5):633-643. doi: 10.4161/rna.19760
    • (2012) RNA Biol , vol.9 , Issue.5 , pp. 633-643
    • Aumiller, V.1    Graebsch, A.2    Kremmer, E.3    Niessing, D.4    Forstemann, K.5
  • 10
    • 84869452506 scopus 로고    scopus 로고
    • Health and economic consequences of fragile X syndrome for caregivers
    • 10.1097/DBP.0b013e318272dcbc 23117595 10.1097/DBP.0b013e318272dcbc
    • Bailey DB Jr, Raspa M, Bishop E, Mitra D, Martin S, Wheeler A, Sacco P (2012) Health and economic consequences of fragile X syndrome for caregivers. J Dev Behav Pediatr 33(9):705-712. doi: 10.1097/DBP.0b013e318272dcbc
    • (2012) J Dev Behav Pediatr , vol.33 , Issue.9 , pp. 705-712
    • Bailey, Jr.D.B.1    Raspa, M.2    Bishop, E.3    Mitra, D.4    Martin, S.5    Wheeler, A.6    Sacco, P.7
  • 11
    • 49449089705 scopus 로고    scopus 로고
    • Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey
    • 18570292 1:CAS:528:DC%2BD1cXhtVCks7vJ 10.1002/ajmg.a.32439
    • Bailey DB Jr, Raspa M, Olmsted M, Holiday DB (2008) Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey. Am J Med Genet A 146A(16):2060-2069
    • (2008) Am J Med Genet A , vol.146 , Issue.16 , pp. 2060-2069
    • Bailey, Jr.D.B.1    Raspa, M.2    Olmsted, M.3    Holiday, D.B.4
  • 13
    • 84861353039 scopus 로고    scopus 로고
    • Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation
    • 10.1111/j.1528-1167.2012.03486.x 22612820 1:CAS:528:DC%2BC38XhtFWhurfL 10.1111/j.1528-1167.2012.03486.x
    • Berman RF, Murray KD, Arque G, Hunsaker MR, Wenzel HJ (2012) Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation. Epilepsia 53(Suppl 1):150-160. doi: 10.1111/j.1528-1167.2012.03486.x
    • (2012) Epilepsia , vol.53 , Issue.SUPPL. 1 , pp. 150-160
    • Berman, R.F.1    Murray, K.D.2    Arque, G.3    Hunsaker, M.R.4    Wenzel, H.J.5
  • 14
    • 74249092236 scopus 로고    scopus 로고
    • Mouse models of fragile X-associated tremor ataxia
    • 10.231/JIM.0b013e3181af59d6 19574928
    • Berman RF, Willemsen R (2009) Mouse models of fragile X-associated tremor ataxia. J Investig Med 57(8):837-841. doi: 10.231/JIM.0b013e3181af59d6
    • (2009) J Investig Med , vol.57 , Issue.8 , pp. 837-841
    • Berman, R.F.1    Willemsen, R.2
  • 16
    • 80051951015 scopus 로고    scopus 로고
    • The RNA-binding protein Sam68 is a multifunctional player in human cancer
    • 10.1530/ERC-11-0041 21565971 1:CAS:528:DC%2BC3MXhtlShsb%2FI 10.1530/ERC-11-0041
    • Bielli P, Busa R, Paronetto MP, Sette C (2011) The RNA-binding protein Sam68 is a multifunctional player in human cancer. Endocr Relat Cancer 18(4):R91-R102. doi: 10.1530/ERC-11-0041
    • (2011) Endocr Relat Cancer , vol.18 , Issue.4
    • Bielli, P.1    Busa, R.2    Paronetto, M.P.3    Sette, C.4
  • 18
    • 84861549089 scopus 로고    scopus 로고
    • Spatiotemporal processing deficits in female CGG KI mice modeling the fragile X premutation
    • 10.1016/j.bbr.2012.04.029 22561129 1:CAS:528:DC%2BC38XovVGqsLw%3D 10.1016/j.bbr.2012.04.029
    • Borthwell RM, Hunsaker MR, Willemsen R, Berman RF (2012) Spatiotemporal processing deficits in female CGG KI mice modeling the fragile X premutation. Behav Brain Res 233(1):29-34. doi: 10.1016/j.bbr.2012.04.029
    • (2012) Behav Brain Res , vol.233 , Issue.1 , pp. 29-34
    • Borthwell, R.M.1    Hunsaker, M.R.2    Willemsen, R.3    Berman, R.F.4
  • 21
    • 78049388091 scopus 로고    scopus 로고
    • The behavioral phenotype of FMR1 mutations
    • 10.1002/ajmg.c.30277 20981777 10.1002/ajmg.c.30277
    • Boyle L, Kaufmann WE (2010) The behavioral phenotype of FMR1 mutations. Am J Med Genet C Semin Med Genet 154C(4):469-476. doi: 10.1002/ajmg.c.30277
    • (2010) Am J Med Genet C Semin Med Genet , vol.154 , Issue.4 , pp. 469-476
    • Boyle, L.1    Kaufmann, W.E.2
  • 22
    • 56749165180 scopus 로고    scopus 로고
    • CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome
    • 10.1111/j.1471-4159.2008.05747.x 19014369 1:CAS:528: DC%2BD1MXis1Srtw%3D%3D 10.1111/j.1471-4159.2008.05747.x
    • Brouwer JR, Huizer K, Severijnen LA, Hukema RK, Berman RF, Oostra BA, Willemsen R (2008) CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem 107(6):1671-1682. doi: 10.1111/j.1471-4159.2008.05747.x
    • (2008) J Neurochem , vol.107 , Issue.6 , pp. 1671-1682
    • Brouwer, J.R.1    Huizer, K.2    Severijnen, L.A.3    Hukema, R.K.4    Berman, R.F.5    Oostra, B.A.6    Willemsen, R.7
  • 24
    • 84863511377 scopus 로고    scopus 로고
    • Clustered burst firing in FMR1 premutation hippocampal neurons: Amelioration with allopregnanolone
    • 10.1093/hmg/dds118 22466801 1:CAS:528:DC%2BC38Xos1ylur0%3D 10.1093/hmg/dds118
    • Cao Z, Hulsizer S, Tassone F, Tang HT, Hagerman RJ, Rogawski MA, Hagerman PJ, Pessah IN (2012) Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone. Hum Mol Genet 21(13):2923-2935. doi: 10.1093/hmg/dds118
    • (2012) Hum Mol Genet , vol.21 , Issue.13 , pp. 2923-2935
    • Cao, Z.1    Hulsizer, S.2    Tassone, F.3    Tang, H.T.4    Hagerman, R.J.5    Rogawski, M.A.6    Hagerman, P.J.7    Pessah, I.N.8
  • 25
    • 34249095727 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat
    • 10.1002/mds.21347 17290448 10.1002/mds.21347
    • Capelli LP, Goncalves MR, Kok F, Leite CC, Nitrini R, Barbosa ER, Vianna-Morgante AM (2007) Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat. Mov Disord 22(6):866-870. doi: 10.1002/mds.21347
    • (2007) Mov Disord , vol.22 , Issue.6 , pp. 866-870
    • Capelli, L.P.1    Goncalves, M.R.2    Kok, F.3    Leite, C.C.4    Nitrini, R.5    Barbosa, E.R.6    Vianna-Morgante, A.M.7
  • 26
    • 77649301567 scopus 로고    scopus 로고
    • Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration
    • 10.1093/hmg/ddp479 19846466 1:CAS:528:DC%2BD1MXhsFGhu7vI 10.1093/hmg/ddp479
    • Chen Y, Tassone F, Berman RF, Hagerman PJ, Hagerman RJ, Willemsen R, Pessah IN (2010) Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet 19(1):196-208. doi: 10.1093/hmg/ddp479
    • (2010) Hum Mol Genet , vol.19 , Issue.1 , pp. 196-208
    • Chen, Y.1    Tassone, F.2    Berman, R.F.3    Hagerman, P.J.4    Hagerman, R.J.5    Willemsen, R.6    Pessah, I.N.7
  • 27
    • 84860880500 scopus 로고    scopus 로고
    • Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder
    • 10.1007/s00439-011-1106-6 22001913 10.1007/s00439-011-1106-6
    • Chonchaiya W, Au J, Schneider A, Hessl D, Harris SW, Laird M, Mu Y, Tassone F, Nguyen DV, Hagerman RJ (2012) Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Hum Genet 131(4):581-589. doi: 10.1007/s00439-011-1106-6
    • (2012) Hum Genet , vol.131 , Issue.4 , pp. 581-589
    • Chonchaiya, W.1    Au, J.2    Schneider, A.3    Hessl, D.4    Harris, S.W.5    Laird, M.6    Mu, Y.7    Tassone, F.8    Nguyen, D.V.9    Hagerman, R.J.10
  • 28
    • 34147129139 scopus 로고    scopus 로고
    • Autism spectrum phenotype in males and females with fragile X full mutation and premutation
    • 10.1007/s10803-006-0205-z 17031449 10.1007/s10803-006-0205-z
    • Clifford S, Dissanayake C, Bui QM, Huggins R, Taylor AK, Loesch DZ (2007) Autism spectrum phenotype in males and females with fragile X full mutation and premutation. J Autism Dev Disord 37(4):738-747. doi: 10.1007/s10803-006-0205-z
    • (2007) J Autism Dev Disord , vol.37 , Issue.4 , pp. 738-747
    • Clifford, S.1    Dissanayake, C.2    Bui, Q.M.3    Huggins, R.4    Taylor, A.K.5    Loesch, D.Z.6
  • 31
    • 78349251291 scopus 로고    scopus 로고
    • Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males
    • 10.1002/ajmg.a.33626 20799337 1:CAS:528:DC%2BC3cXhsVWjs7fL 10.1002/ajmg.a.33626
    • Collins SC, Bray SM, Suhl JA, Cutler DJ, Coffee B, Zwick ME, Warren ST (2010) Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males. Am J Med Genet A 152A(10):2512-2520. doi: 10.1002/ajmg.a.33626
    • (2010) Am J Med Genet A , vol.152 , Issue.10 , pp. 2512-2520
    • Collins, S.C.1    Bray, S.M.2    Suhl, J.A.3    Cutler, D.J.4    Coffee, B.5    Zwick, M.E.6    Warren, S.T.7
  • 32
    • 0031809893 scopus 로고    scopus 로고
    • Fragile X premutation screening in women with premature ovarian failure
    • 9647544 1:STN:280:DyaK1czgvFOmuw%3D%3D 10.1093/humrep/13.5.1184
    • Conway GS, Payne NN, Webb J, Murray A, Jacobs PA (1998) Fragile X premutation screening in women with premature ovarian failure. Hum Reprod 13(5):1184-1187
    • (1998) Hum Reprod , vol.13 , Issue.5 , pp. 1184-1187
    • Conway, G.S.1    Payne, N.N.2    Webb, J.3    Murray, A.4    Jacobs, P.A.5
  • 33
    • 60849092523 scopus 로고    scopus 로고
    • Lifespan changes in working memory in fragile X premutation males
    • 10.1016/j.bandc.2008.11.006 19114290 10.1016/j.bandc.2008.11.006
    • Cornish KM, Kogan CS, Li L, Turk J, Jacquemont S, Hagerman RJ (2009) Lifespan changes in working memory in fragile X premutation males. Brain Cogn 69(3):551-558. doi: 10.1016/j.bandc.2008.11.006
    • (2009) Brain Cogn , vol.69 , Issue.3 , pp. 551-558
    • Cornish, K.M.1    Kogan, C.S.2    Li, L.3    Turk, J.4    Jacquemont, S.5    Hagerman, R.J.6
  • 34
    • 44249106115 scopus 로고    scopus 로고
    • Age-dependent cognitive changes in carriers of the fragile X syndrome
    • 10.1016/j.cortex.2006.11.002 18472033 10.1016/j.cortex.2006.11.002
    • Cornish KM, Li L, Kogan CS, Jacquemont S, Turk J, Dalton A, Hagerman RJ, Hagerman PJ (2008) Age-dependent cognitive changes in carriers of the fragile X syndrome. Cortex 44(6):628-636. doi: 10.1016/j.cortex.2006.11.002
    • (2008) Cortex , vol.44 , Issue.6 , pp. 628-636
    • Cornish, K.M.1    Li, L.2    Kogan, C.S.3    Jacquemont, S.4    Turk, J.5    Dalton, A.6    Hagerman, R.J.7    Hagerman, P.J.8
  • 35
    • 0025967195 scopus 로고
    • Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features
    • 2018071 1:STN:280:DyaK3M3gs1Cnuw%3D%3D 10.1002/ajmg.1320380221
    • Cronister A, Schreiner R, Wittenberger M, Amiri K, Harris K, Hagerman RJ (1991) Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features. Am J Med Genet 38(2-3):269-274
    • (1991) Am J Med Genet , vol.38 , Issue.2-3 , pp. 269-274
    • Cronister, A.1    Schreiner, R.2    Wittenberger, M.3    Amiri, K.4    Harris, K.5    Hagerman, R.J.6
  • 37
    • 43749120042 scopus 로고    scopus 로고
    • Conditional loss of Dicer disrupts cellular and tissue morphogenesis in the cortex and hippocampus
    • 10.1523/JNEUROSCI.4815-07.2008 18434510 1:CAS:528:DC%2BD1cXlsVWgsrs%3D 10.1523/JNEUROSCI.4815-07.2008
    • Davis TH, Cuellar TL, Koch SM, Barker AJ, Harfe BD, McManus MT, Ullian EM (2008) Conditional loss of Dicer disrupts cellular and tissue morphogenesis in the cortex and hippocampus. J Neurosci 28(17):4322-4330. doi: 10.1523/JNEUROSCI.4815-07.2008
    • (2008) J Neurosci , vol.28 , Issue.17 , pp. 4322-4330
    • Davis, T.H.1    Cuellar, T.L.2    Koch, S.M.3    Barker, A.J.4    Harfe, B.D.5    McManus, M.T.6    Ullian, E.M.7
  • 39
    • 59749089928 scopus 로고    scopus 로고
    • MiRNAs are essential for survival and differentiation of newborn neurons but not for expansion of neural progenitors during early neurogenesis in the mouse embryonic neocortex
    • 10.1242/dev.025080 10.1242/dev.025080 1:CAS:528:DC%2BD1MXptV2jtA%3D%3D
    • De Pietri Tonelli D, Pulvers JN, Haffner C, Murchison EP, Hannon GJ, Huttner WB (2008) miRNAs are essential for survival and differentiation of newborn neurons but not for expansion of neural progenitors during early neurogenesis in the mouse embryonic neocortex. Development 135(23):3911-3921. doi: 10.1242/dev.025080
    • (2008) Development , vol.135 , Issue.23 , pp. 3911-3921
    • De Pietri, T.D.1    Pulvers, J.N.2    Haffner, C.3    Murchison, E.P.4    Hannon, G.J.5    Huttner, W.B.6
  • 40
    • 9144224451 scopus 로고    scopus 로고
    • Processing of primary microRNAs by the Microprocessor complex
    • 10.1038/nature03049 15531879 1:CAS:528:DC%2BD2cXpsF2gtrY%3D 10.1038/nature03049
    • Denli AM, Tops BB, Plasterk RH, Ketting RF, Hannon GJ (2004) Processing of primary microRNAs by the Microprocessor complex. Nature 432(7014):231-235. doi: 10.1038/nature03049
    • (2004) Nature , vol.432 , Issue.7014 , pp. 231-235
    • Denli, A.M.1    Tops, B.B.2    Plasterk, R.H.3    Ketting, R.F.4    Hannon, G.J.5
  • 41
    • 84856771413 scopus 로고    scopus 로고
    • Female CGG knock-in mice modeling the fragile X premutation are impaired on a skilled forelimb reaching task
    • 10.1016/j.nlm.2011.12.006 22202169 1:CAS:528:DC%2BC38Xit1Wjs78%3D 10.1016/j.nlm.2011.12.006
    • Diep AA, Hunsaker MR, Kwock R, Kim K, Willemsen R, Berman RF (2012) Female CGG knock-in mice modeling the fragile X premutation are impaired on a skilled forelimb reaching task. Neurobiol Learn Mem 97(2):229-234. doi: 10.1016/j.nlm.2011.12.006
    • (2012) Neurobiol Learn Mem , vol.97 , Issue.2 , pp. 229-234
    • Diep, A.A.1    Hunsaker, M.R.2    Kwock, R.3    Kim, K.4    Willemsen, R.5    Berman, R.F.6
  • 42
    • 84867769481 scopus 로고    scopus 로고
    • A Small molecule that targets r(CGG)(exp) and improves defects in fragile X-associated tremor ataxia syndrome
    • 10.1021/cb300135h 22948243 1:CAS:528:DC%2BC38Xht12is7vN 10.1021/cb300135h
    • Disney MD, Liu B, Yang WY, Sellier C, Tran T, Charlet-Berguerand N, Childs-Disney JL (2012) A Small molecule that targets r(CGG)(exp) and improves defects in fragile X-associated tremor ataxia syndrome. ACS Chem Biol 7(10):1711-1718. doi: 10.1021/cb300135h
    • (2012) ACS Chem Biol , vol.7 , Issue.10 , pp. 1711-1718
    • Disney, M.D.1    Liu, B.2    Yang, W.Y.3    Sellier, C.4    Tran, T.5    Charlet-Berguerand, N.6    Childs-Disney, J.L.7
  • 43
    • 0037084852 scopus 로고    scopus 로고
    • Premutation and intermediate-size FMR1 alleles in 10,572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
    • 11854169 1:CAS:528:DC%2BD38XitF2mtLk%3D 10.1093/hmg/11.4.371
    • Dombrowski C, Levesque S, Morel ML, Rouillard P, Morgan K, Rousseau F (2002) Premutation and intermediate-size FMR1 alleles in 10,572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet 11(4):371-378
    • (2002) Hum Mol Genet , vol.11 , Issue.4 , pp. 371-378
    • Dombrowski, C.1    Levesque, S.2    Morel, M.L.3    Rouillard, P.4    Morgan, K.5    Rousseau, F.6
  • 44
    • 84862147242 scopus 로고    scopus 로고
    • RNA-binding proteins in microsatellite expansion disorders: Mediators of RNA toxicity
    • 10.1016/j.brainres.2012.02.030 22405728 1:CAS:528:DC%2BC38Xot1yntbo%3D 10.1016/j.brainres.2012.02.030
    • Echeverria GV, Cooper TA (2012) RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity. Brain Res 1462:100-111. doi: 10.1016/j.brainres.2012.02.030
    • (2012) Brain Res , vol.1462 , pp. 100-111
    • Echeverria, G.V.1    Cooper, T.A.2
  • 45
    • 0028886722 scopus 로고
    • Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions
    • 8634688 1:CAS:528:DyaK2MXpvFertLY%3D 10.1093/hmg/4.12.2199
    • Eichler EE, Hammond HA, Macpherson JN, Ward PA, Nelson DL (1995) Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions. Hum Mol Genet 4(12):2199-2208
    • (1995) Hum Mol Genet , vol.4 , Issue.12 , pp. 2199-2208
    • Eichler, E.E.1    Hammond, H.A.2    Macpherson, J.N.3    Ward, P.A.4    Nelson, D.L.5
  • 47
    • 34247637636 scopus 로고    scopus 로고
    • Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model
    • 10.1016/j.gene.2007.02.026 17442505 1:CAS:528:DC%2BD2sXkvFWrtbk%3D 10.1016/j.gene.2007.02.026
    • Entezam A, Biacsi R, Orrison B, Saha T, Hoffman GE, Grabczyk E, Nussbaum RL, Usdin K (2007) Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. Gene 395(1-2):125-134. doi: 10.1016/j.gene.2007.02.026
    • (2007) Gene , vol.395 , Issue.1-2 , pp. 125-134
    • Entezam, A.1    Biacsi, R.2    Orrison, B.3    Saha, T.4    Hoffman, G.E.5    Grabczyk, E.6    Nussbaum, R.L.7    Usdin, K.8
  • 48
    • 77955119567 scopus 로고    scopus 로고
    • DGCR8 recognizes primary transcripts of microRNAs through highly cooperative binding and formation of higher-order structures
    • 10.1261/rna.2111310 20558544 1:CAS:528:DC%2BC3cXhtVCltL3J 10.1261/rna.2111310
    • Faller M, Toso D, Matsunaga M, Atanasov I, Senturia R, Chen Y, Zhou ZH, Guo F (2010) DGCR8 recognizes primary transcripts of microRNAs through highly cooperative binding and formation of higher-order structures. RNA 16(8):1570-1583. doi: 10.1261/rna.2111310
    • (2010) RNA , vol.16 , Issue.8 , pp. 1570-1583
    • Faller, M.1    Toso, D.2    Matsunaga, M.3    Atanasov, I.4    Senturia, R.5    Chen, Y.6    Zhou, Z.H.7    Guo, F.8
  • 50
    • 79952733634 scopus 로고    scopus 로고
    • Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex
    • 10.1073/pnas.1101219108 21368174 1:CAS:528:DC%2BC3MXjvV2isbw%3D 10.1073/pnas.1101219108
    • Fenelon K, Mukai J, Xu B, Hsu PK, Drew LJ, Karayiorgou M, Fischbach GD, Macdermott AB, Gogos JA (2011) Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex. Proc Natl Acad Sci USA 108(11):4447-4452. doi: 10.1073/pnas.1101219108
    • (2011) Proc Natl Acad Sci USA , vol.108 , Issue.11 , pp. 4447-4452
    • Fenelon, K.1    Mukai, J.2    Xu, B.3    Hsu, P.K.4    Drew, L.J.5    Karayiorgou, M.6    Fischbach, G.D.7    Macdermott, A.B.8    Gogos, J.A.9
  • 51
    • 84872935361 scopus 로고    scopus 로고
    • MicroRNA biogenesis: Regulating the regulators
    • 10.3109/10409238.2012.738643 23163351 1:CAS:528:DC%2BC3sXhsFeisLk%3D 10.3109/10409238.2012.738643
    • Finnegan EF, Pasquinelli AE (2013) MicroRNA biogenesis: regulating the regulators. Crit Rev Biochem Mol Biol 48(1):51-68. doi: 10.3109/10409238.2012. 738643
    • (2013) Crit Rev Biochem Mol Biol , vol.48 , Issue.1 , pp. 51-68
    • Finnegan, E.F.1    Pasquinelli, A.E.2
  • 53
    • 0029899583 scopus 로고    scopus 로고
    • Fragile-X carrier females: Evidence for a distinct psychopathological phenotype?
    • 8844076 1:STN:280:DyaK2s%2FgtFSntA%3D%3D 10.1002/(SICI)1096- 8628(19960809)64:2<334: AID-AJMG20>3.0.CO;2-F
    • Franke P, Maier W, Hautzinger M, Weiffenbach O, Gansicke M, Iwers B, Poustka F, Schwab SG, Froster U (1996) Fragile-X carrier females: evidence for a distinct psychopathological phenotype? Am J Med Genet 64(2):334-339
    • (1996) Am J Med Genet , vol.64 , Issue.2 , pp. 334-339
    • Franke, P.1    Maier, W.2    Hautzinger, M.3    Weiffenbach, O.4    Gansicke, M.5    Iwers, B.6    Poustka, F.7    Schwab, S.G.8    Froster, U.9
  • 54
    • 75249107845 scopus 로고    scopus 로고
    • Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome
    • 10.2217/fnl.09.44 20161676 1:CAS:528:DC%2BD1MXhsVWmsrfL 10.2217/fnl.09.44
    • Galloway JN, Nelson DL (2009) Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol 4(6):785. doi: 10.2217/fnl.09.44
    • (2009) Future Neurol , vol.4 , Issue.6 , pp. 785
    • Galloway, J.N.1    Nelson, D.L.2
  • 56
    • 65649138779 scopus 로고    scopus 로고
    • Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS)
    • 10.1111/j.1440-1789.2008.00948.x 18627480 10.1111/j.1440-1789.2008.00948. x
    • Gokden M, Al-Hinti JT, Harik SI (2009) Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS). Neuropathology 29(3):280-284. doi: 10.1111/j.1440-1789.2008.00948.x
    • (2009) Neuropathology , vol.29 , Issue.3 , pp. 280-284
    • Gokden, M.1    Al-Hinti, J.T.2    Harik, S.I.3
  • 57
    • 12744260103 scopus 로고    scopus 로고
    • Autistic spectrum disorder and the fragile X premutation
    • 15613987 10.1097/00004703-200412000-00002
    • Goodlin-Jones BL, Tassone F, Gane LW, Hagerman RJ (2004) Autistic spectrum disorder and the fragile X premutation. J Dev Behav Pediatr 25(6):392-398
    • (2004) J Dev Behav Pediatr , vol.25 , Issue.6 , pp. 392-398
    • Goodlin-Jones, B.L.1    Tassone, F.2    Gane, L.W.3    Hagerman, R.J.4
  • 58
    • 79960270042 scopus 로고    scopus 로고
    • Enhanced manual and oral motor reaction time in young adult female fragile X premutation carriers
    • 10.1017/S1355617711000634 21554789 10.1017/S1355617711000634
    • Goodrich-Hunsaker NJ, Wong LM, McLennan Y, Tassone F, Harvey D, Rivera SM, Simon TJ (2011) Enhanced manual and oral motor reaction time in young adult female fragile X premutation carriers. J Int Neuropsychol Soc 17(4):746-750. doi: 10.1017/S1355617711000634
    • (2011) J Int Neuropsychol Soc , vol.17 , Issue.4 , pp. 746-750
    • Goodrich-Hunsaker, N.J.1    Wong, L.M.2    McLennan, Y.3    Tassone, F.4    Harvey, D.5    Rivera, S.M.6    Simon, T.J.7
  • 60
    • 0036345801 scopus 로고    scopus 로고
    • Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
    • 12135967 1:STN:280:DC%2BD38vjt1CqtQ%3D%3D 10.1093/brain/awf184
    • Greco CM, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ (2002) Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125(Pt 8):1760-1771
    • (2002) Brain , vol.125 , Issue.PART 8 , pp. 1760-1771
    • Greco, C.M.1    Hagerman, R.J.2    Tassone, F.3    Chudley, A.E.4    Del Bigio, M.R.5    Jacquemont, S.6    Leehey, M.7    Hagerman, P.J.8
  • 61
    • 33947268037 scopus 로고    scopus 로고
    • Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome
    • 10.1016/j.juro.2006.11.097 17382748 1:CAS:528:DC%2BD2sXksVantL0%3D 10.1016/j.juro.2006.11.097
    • Greco CM, Soontrapornchai K, Wirojanan J, Gould JE, Hagerman PJ, Hagerman RJ (2007) Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. J Urol 177(4):1434-1437. doi: 10.1016/j.juro.2006.11.097
    • (2007) J Urol , vol.177 , Issue.4 , pp. 1434-1437
    • Greco, C.M.1    Soontrapornchai, K.2    Wirojanan, J.3    Gould, J.E.4    Hagerman, P.J.5    Hagerman, R.J.6
  • 62
    • 9144225636 scopus 로고    scopus 로고
    • The Microprocessor complex mediates the genesis of microRNAs
    • 10.1038/nature03120 15531877 1:CAS:528:DC%2BD2cXpsF2gt7g%3D 10.1038/nature03120
    • Gregory RI, Yan KP, Amuthan G, Chendrimada T, Doratotaj B, Cooch N, Shiekhattar R (2004) The Microprocessor complex mediates the genesis of microRNAs. Nature 432(7014):235-240. doi: 10.1038/nature03120
    • (2004) Nature , vol.432 , Issue.7014 , pp. 235-240
    • Gregory, R.I.1    Yan, K.P.2    Amuthan, G.3    Chendrimada, T.4    Doratotaj, B.5    Cooch, N.6    Shiekhattar, R.7
  • 64
    • 79952751389 scopus 로고    scopus 로고
    • A nonsense mutation in FMR1 causing fragile X syndrome
    • 10.1038/ejhg.2010.223 21267007 1:CAS:528:DC%2BC3MXjsVCkur8%3D 10.1038/ejhg.2010.223
    • Gronskov K, Brondum-Nielsen K, Dedic A, Hjalgrim H (2011) A nonsense mutation in FMR1 causing fragile X syndrome. Eur J Hum Genet 19(4):489-491. doi: 10.1038/ejhg.2010.223
    • (2011) Eur J Hum Genet , vol.19 , Issue.4 , pp. 489-491
    • Gronskov, K.1    Brondum-Nielsen, K.2    Dedic, A.3    Hjalgrim, H.4
  • 65
    • 85113601514 scopus 로고    scopus 로고
    • Current Gaps in Understanding the Molecular Basis of FXTAS
    • Hagerman PJ (2012) Current Gaps in Understanding the Molecular Basis of FXTAS. Tremor Other Hyperkinet Mov (N Y) 2
    • (2012) Tremor Other Hyperkinet Mov (N Y) , pp. 2
    • Hagerman, P.J.1
  • 66
    • 80955178868 scopus 로고    scopus 로고
    • FMR1 premutation and full mutation molecular mechanisms related to autism
    • 10.1007/s11689-011-9084-5 21617890 10.1007/s11689-011-9084-5
    • Hagerman R, Au J, Hagerman P (2011) FMR1 premutation and full mutation molecular mechanisms related to autism. J Neurodev Disord 3(3):211-224. doi: 10.1007/s11689-011-9084-5
    • (2011) J Neurodev Disord , vol.3 , Issue.3 , pp. 211-224
    • Hagerman, R.1    Au, J.2    Hagerman, P.3
  • 68
    • 0035838379 scopus 로고    scopus 로고
    • Intention tremor, Parkinsonism, and generalized brain atrophy in male carriers of fragile X
    • 11445641 1:STN:280:DC%2BD3MzptFejug%3D%3D 10.1212/WNL.57.1.127
    • Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ (2001) Intention tremor, Parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57(1):127-130
    • (2001) Neurology , vol.57 , Issue.1 , pp. 127-130
    • Hagerman, R.J.1    Leehey, M.2    Heinrichs, W.3    Tassone, F.4    Wilson, R.5    Hills, J.6    Grigsby, J.7    Gage, B.8    Hagerman, P.J.9
  • 69
    • 84862250175 scopus 로고    scopus 로고
    • Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers
    • 10.1002/mds.24021 22161987 10.1002/mds.24021 1:CAS:528: DC%2BC38Xhs1Glur%2FI
    • Hall D, Tassone F, Klepitskaya O, Leehey M (2012) Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Mov Disord 27(2):296-300. doi: 10.1002/mds.24021
    • (2012) Mov Disord , vol.27 , Issue.2 , pp. 296-300
    • Hall, D.1    Tassone, F.2    Klepitskaya, O.3    Leehey, M.4
  • 71
    • 84861225172 scopus 로고    scopus 로고
    • Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS)
    • 10.1002/ajmg.a.35323 22528549 10.1002/ajmg.a.35323 1:CAS:528: DC%2BC38Xnt1Grt7o%3D
    • Hamlin AA, Sukharev D, Campos L, Mu Y, Tassone F, Hessl D, Nguyen DV, Loesch D, Hagerman RJ (2012) Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet A 158A(6):1304-1309. doi: 10.1002/ajmg.a.35323
    • (2012) Am J Med Genet A , vol.158 , Issue.6 , pp. 1304-1309
    • Hamlin, A.A.1    Sukharev, D.2    Campos, L.3    Mu, Y.4    Tassone, F.5    Hessl, D.6    Nguyen, D.V.7    Loesch, D.8    Hagerman, R.J.9
  • 72
    • 10644234841 scopus 로고    scopus 로고
    • The Drosha-DGCR8 complex in primary microRNA processing
    • 10.1101/gad.1262504 15574589 1:CAS:528:DC%2BD2MXhtFaguw%3D%3D 10.1101/gad.1262504
    • Han J, Lee Y, Yeom KH, Kim YK, Jin H, Kim VN (2004) The Drosha-DGCR8 complex in primary microRNA processing. Genes Dev 18(24):3016-3027. doi: 10.1101/gad.1262504
    • (2004) Genes Dev , vol.18 , Issue.24 , pp. 3016-3027
    • Han, J.1    Lee, Y.2    Yeom, K.H.3    Kim, Y.K.4    Jin, H.5    Kim, V.N.6
  • 74
    • 67249150481 scopus 로고    scopus 로고
    • Ectopic expression of CGG containing mRNA is neurotoxic in mammals
    • 10.1093/hmg/ddp182 19377084 1:CAS:528:DC%2BD1MXnt1ehtLg%3D 10.1093/hmg/ddp182
    • Hashem V, Galloway JN, Mori M, Willemsen R, Oostra BA, Paylor R, Nelson DL (2009) Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet 18(13):2443-2451. doi: 10.1093/hmg/ddp182
    • (2009) Hum Mol Genet , vol.18 , Issue.13 , pp. 2443-2451
    • Hashem, V.1    Galloway, J.N.2    Mori, M.3    Willemsen, R.4    Oostra, B.A.5    Paylor, R.6    Nelson, D.L.7
  • 75
    • 78650957433 scopus 로고    scopus 로고
    • An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS)
    • 20537351 10.1016/j.jpsychires.2010.04.030
    • Hashimoto R, Backer KC, Tassone F, Hagerman RJ, Rivera SM (2011) An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS). J Psychiatr Res 45(1):36-43
    • (2011) J Psychiatr Res , vol.45 , Issue.1 , pp. 36-43
    • Hashimoto, R.1    Backer, K.C.2    Tassone, F.3    Hagerman, R.J.4    Rivera, S.M.5
  • 76
    • 79952164557 scopus 로고    scopus 로고
    • A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome
    • 21354978 10.1093/brain/awq368
    • Hashimoto R, Javan AK, Tassone F, Hagerman RJ, Rivera SM (2011) A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome. Brain 134(Pt 3):863-878
    • (2011) Brain , vol.134 , Issue.PART 3 , pp. 863-878
    • Hashimoto, R.1    Javan, A.K.2    Tassone, F.3    Hagerman, R.J.4    Rivera, S.M.5
  • 77
    • 79959326132 scopus 로고    scopus 로고
    • Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene
    • 10.1002/mds.23646 21484870 10.1002/mds.23646
    • Hashimoto R, Srivastava S, Tassone F, Hagerman RJ, Rivera SM (2011) Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene. Mov Disord 26(7):1329-1336. doi: 10.1002/mds.23646
    • (2011) Mov Disord , vol.26 , Issue.7 , pp. 1329-1336
    • Hashimoto, R.1    Srivastava, S.2    Tassone, F.3    Hagerman, R.J.4    Rivera, S.M.5
  • 78
    • 77957735016 scopus 로고    scopus 로고
    • Genetic ablation of Dicer in adult forebrain neurons results in abnormal tau hyperphosphorylation and neurodegeneration
    • 10.1093/hmg/ddq311 20660113 1:CAS:528:DC%2BC3cXht1eqt7fL 10.1093/hmg/ddq311
    • Hebert SS, Papadopoulou AS, Smith P, Galas MC, Planel E, Silahtaroglu AN, Sergeant N, Buee L, De Strooper B (2010) Genetic ablation of Dicer in adult forebrain neurons results in abnormal tau hyperphosphorylation and neurodegeneration. Hum Mol Genet 19(20):3959-3969. doi: 10.1093/hmg/ddq311
    • (2010) Hum Mol Genet , vol.19 , Issue.20 , pp. 3959-3969
    • Hebert, S.S.1    Papadopoulou, A.S.2    Smith, P.3    Galas, M.C.4    Planel, E.5    Silahtaroglu, A.N.6    Sergeant, N.7    Buee, L.8    De Strooper, B.9
  • 79
  • 81
    • 80053932593 scopus 로고    scopus 로고
    • Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation
    • 10.1016/j.biopsych.2011.05.033 21783174 1:CAS:528:DC%2BC3MXht12it7%2FE 10.1016/j.biopsych.2011.05.033
    • Hessl D, Wang JM, Schneider A, Koldewyn K, Le L, Iwahashi C, Cheung K, Tassone F, Hagerman PJ, Rivera SM (2011) Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation. Biol Psychiatry 70(9):859-865. doi: 10.1016/j.biopsych.2011.05.033
    • (2011) Biol Psychiatry , vol.70 , Issue.9 , pp. 859-865
    • Hessl, D.1    Wang, J.M.2    Schneider, A.3    Koldewyn, K.4    Le, L.5    Iwahashi, C.6    Cheung, K.7    Tassone, F.8    Hagerman, P.J.9    Rivera, S.M.10
  • 84
    • 77955944561 scopus 로고    scopus 로고
    • Wnt1-cre-mediated conditional loss of Dicer results in malformation of the midbrain and cerebellum and failure of neural crest and dopaminergic differentiation in mice
    • 10.1093/jmcb/mjq008 20457670 1:CAS:528:DC%2BC3cXot1eru74%3D 10.1093/jmcb/mjq008
    • Huang T, Liu Y, Huang M, Zhao X, Cheng L (2010) Wnt1-cre-mediated conditional loss of Dicer results in malformation of the midbrain and cerebellum and failure of neural crest and dopaminergic differentiation in mice. J Mol Cell Biol 2(3):152-163. doi: 10.1093/jmcb/mjq008
    • (2010) J Mol Cell Biol , vol.2 , Issue.3 , pp. 152-163
    • Huang, T.1    Liu, Y.2    Huang, M.3    Zhao, X.4    Cheng, L.5
  • 85
    • 80455174205 scopus 로고    scopus 로고
    • Mouse models of the fragile X premutation and the fragile X associated tremor/ataxia syndrome
    • 10.1007/978-3-642-21649-7-14 22009357 1:CAS:528:DC%2BC3sXkvVGisg%3D%3D 10.1007/978-3-642-21649-7-14
    • Hunsaker MR, Arque G, Berman RF, Willemsen R, Hukema RK (2012) Mouse models of the fragile X premutation and the fragile X associated tremor/ataxia syndrome. Results Probl Cell Differ 54:255-269. doi: 10.1007/978-3-642-21649-7- 14
    • (2012) Results Probl Cell Differ , vol.54 , pp. 255-269
    • Hunsaker, M.R.1    Arque, G.2    Berman, R.F.3    Willemsen, R.4    Hukema, R.K.5
  • 86
    • 77953917097 scopus 로고    scopus 로고
    • Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation
    • 10.1016/j.bbr.2010.05.010 20478339 1:CAS:528:DC%2BC3cXnvVektL0%3D 10.1016/j.bbr.2010.05.010
    • Hunsaker MR, Goodrich-Hunsaker NJ, Willemsen R, Berman RF (2010) Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation. Behav Brain Res 213(2):263-268. doi: 10.1016/j.bbr.2010.05.010
    • (2010) Behav Brain Res , vol.213 , Issue.2 , pp. 263-268
    • Hunsaker, M.R.1    Goodrich-Hunsaker, N.J.2    Willemsen, R.3    Berman, R.F.4
  • 88
    • 79957468734 scopus 로고    scopus 로고
    • Rare intranuclear inclusions in the brains of 3 older adult males with fragile X syndrome: Implications for the spectrum of fragile X-associated disorders
    • 10.1097/NEN.0b013e31821d3194 21572337 1:CAS:528:DC%2BC3MXmt1yltLk%3D 10.1097/NEN.0b013e31821d3194
    • Hunsaker MR, Greco CM, Tassone F, Berman RF, Willemsen R, Hagerman RJ, Hagerman PJ (2011) Rare intranuclear inclusions in the brains of 3 older adult males with fragile X syndrome: implications for the spectrum of fragile X-associated disorders. J Neuropathol Exp Neurol 70(6):462-469. doi: 10.1097/NEN.0b013e31821d3194
    • (2011) J Neuropathol Exp Neurol , vol.70 , Issue.6 , pp. 462-469
    • Hunsaker, M.R.1    Greco, C.M.2    Tassone, F.3    Berman, R.F.4    Willemsen, R.5    Hagerman, R.J.6    Hagerman, P.J.7
  • 89
    • 84869866357 scopus 로고    scopus 로고
    • CGG trinucleotide repeat length modulates neural plasticity and spatiotemporal processing in a mouse model of the fragile X premutation
    • 10.1002/hipo.22043 22707411 1:CAS:528:DC%2BC38Xhs12rsbvO 10.1002/hipo.22043
    • Hunsaker MR, Kim K, Willemsen R, Berman RF (2012) CGG trinucleotide repeat length modulates neural plasticity and spatiotemporal processing in a mouse model of the fragile X premutation. Hippocampus 22(12):2260-2275. doi: 10.1002/hipo.22043
    • (2012) Hippocampus , vol.22 , Issue.12 , pp. 2260-2275
    • Hunsaker, M.R.1    Kim, K.2    Willemsen, R.3    Berman, R.F.4
  • 90
    • 79953896513 scopus 로고    scopus 로고
    • Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in mice
    • 10.1016/j.bbr.2011.03.039 21440572 10.1016/j.bbr.2011.03.039
    • Hunsaker MR, von Leden RE, Ta BT, Goodrich-Hunsaker NJ, Arque G, Kim K, Willemsen R, Berman RF (2011) Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in mice. Behav Brain Res 222(1):117-121. doi: 10.1016/j.bbr.2011.03.039
    • (2011) Behav Brain Res , vol.222 , Issue.1 , pp. 117-121
    • Hunsaker, M.R.1    Von Leden, R.E.2    Ta, B.T.3    Goodrich-Hunsaker, N.J.4    Arque, G.5    Kim, K.6    Willemsen, R.7    Berman, R.F.8
  • 91
    • 72249123025 scopus 로고    scopus 로고
    • Progressive spatial processing deficits in a mouse model of the fragile X premutation
    • 10.1037/a0017616 20001115 1:CAS:528:DC%2BC3cXltF2rt7Y%3D 10.1037/a0017616
    • Hunsaker MR, Wenzel HJ, Willemsen R, Berman RF (2009) Progressive spatial processing deficits in a mouse model of the fragile X premutation. Behav Neurosci 123(6):1315-1324. doi: 10.1037/a0017616
    • (2009) Behav Neurosci , vol.123 , Issue.6 , pp. 1315-1324
    • Hunsaker, M.R.1    Wenzel, H.J.2    Willemsen, R.3    Berman, R.F.4
  • 93
    • 84874535035 scopus 로고    scopus 로고
    • Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice
    • 10.1093/hmg/dds525 23250915 1:CAS:528:DC%2BC3sXivFKqtb0%3D 10.1093/hmg/dds525
    • Iliff AJ, Renoux AJ, Krans A, Usdin K, Sutton MA, Todd PK (2013) Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice. Hum Mol Genet 22(6):1180-1192. doi: 10.1093/hmg/dds525
    • (2013) Hum Mol Genet , vol.22 , Issue.6 , pp. 1180-1192
    • Iliff, A.J.1    Renoux, A.J.2    Krans, A.3    Usdin, K.4    Sutton, M.A.5    Todd, P.K.6
  • 96
    • 34547681603 scopus 로고    scopus 로고
    • Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome
    • 10.1016/j.neuron.2007.07.020 17698009 1:CAS:528:DC%2BD2sXpslKqsbw%3D 10.1016/j.neuron.2007.07.020
    • Jin P, Duan R, Qurashi A, Qin Y, Tian D, Rosser TC, Liu H, Feng Y, Warren ST (2007) Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron 55(4):556-564. doi: 10.1016/j.neuron.2007.07.020
    • (2007) Neuron , vol.55 , Issue.4 , pp. 556-564
    • Jin, P.1    Duan, R.2    Qurashi, A.3    Qin, Y.4    Tian, D.5    Rosser, T.C.6    Liu, H.7    Feng, Y.8    Warren, S.T.9
  • 97
    • 0041880131 scopus 로고    scopus 로고
    • RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
    • 12948442 1:CAS:528:DC%2BD3sXnt1Wku74%3D 10.1016/S0896-6273(03)00533-6
    • Jin P, Zarnescu DC, Zhang F, Pearson CE, Lucchesi JC, Moses K, Warren ST (2003) RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 39(5):739-747
    • (2003) Neuron , vol.39 , Issue.5 , pp. 739-747
    • Jin, P.1    Zarnescu, D.C.2    Zhang, F.3    Pearson, C.E.4    Lucchesi, J.C.5    Moses, K.6    Warren, S.T.7
  • 99
    • 0033080408 scopus 로고    scopus 로고
    • Molecular characterization of the hnRNP A2/B1 proteins: Tissue-specific expression and novel isoforms
    • 10.1006/excr.1998.4323 9925756 1:CAS:528:DyaK1MXpsFakuw%3D%3D 10.1006/excr.1998.4323
    • Kamma H, Horiguchi H, Wan L, Matsui M, Fujiwara M, Fujimoto M, Yazawa T, Dreyfuss G (1999) Molecular characterization of the hnRNP A2/B1 proteins: tissue-specific expression and novel isoforms. Exp Cell Res 246(2):399-411. doi: 10.1006/excr.1998.4323
    • (1999) Exp Cell Res , vol.246 , Issue.2 , pp. 399-411
    • Kamma, H.1    Horiguchi, H.2    Wan, L.3    Matsui, M.4    Fujiwara, M.5    Fujimoto, M.6    Yazawa, T.7    Dreyfuss, G.8
  • 100
    • 84867576326 scopus 로고    scopus 로고
    • Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model
    • 10.1111/j.1471-4159.2012.07936.x 22924671 1:CAS:528:DC%2BC38XhsFSnsb%2FO 10.1111/j.1471-4159.2012.07936.x
    • Kaplan ES, Cao Z, Hulsizer S, Tassone F, Berman RF, Hagerman PJ, Pessah IN (2012) Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model. J Neurochem 123(4):613-621. doi: 10.1111/j.1471-4159.2012.07936.x
    • (2012) J Neurochem , vol.123 , Issue.4 , pp. 613-621
    • Kaplan, E.S.1    Cao, Z.2    Hulsizer, S.3    Tassone, F.4    Berman, R.F.5    Hagerman, P.J.6    Pessah, I.N.7
  • 101
    • 84879605706 scopus 로고    scopus 로고
    • A patient with fragile x-associated tremor/ataxia syndrome presenting with executive cognitive deficits and cerebral white matter lesions
    • 10.1159/000328838 21720528 10.1159/000328838
    • Kasuga K, Ikeuchi T, Arakawa K, Yajima R, Tokutake T, Nishizawa M (2011) A patient with fragile x-associated tremor/ataxia syndrome presenting with executive cognitive deficits and cerebral white matter lesions. Case Rep Neurol 3(2):118-123. doi: 10.1159/000328838
    • (2011) Case Rep Neurol , vol.3 , Issue.2 , pp. 118-123
    • Kasuga, K.1    Ikeuchi, T.2    Arakawa, K.3    Yajima, R.4    Tokutake, T.5    Nishizawa, M.6
  • 102
    • 0035394437 scopus 로고    scopus 로고
    • Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
    • 11448936 1:CAS:528:DC%2BD3MXlsFOgurs%3D 10.1093/hmg/10.14.1449
    • Kenneson A, Zhang F, Hagedorn CH, Warren ST (2001) Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 10(14):1449-1454
    • (2001) Hum Mol Genet , vol.10 , Issue.14 , pp. 1449-1454
    • Kenneson, A.1    Zhang, F.2    Hagedorn, C.H.3    Warren, S.T.4
  • 103
    • 44949246486 scopus 로고    scopus 로고
    • A novel RNA transcript with antiapoptotic function is silenced in fragile X syndrome
    • 10.1371/journal.pone.0001486 18213394 10.1371/journal.pone.0001486 1:CAS:528:DC%2BD1cXisValsLo%3D
    • Khalil AM, Faghihi MA, Modarresi F, Brothers SP, Wahlestedt C (2008) A novel RNA transcript with antiapoptotic function is silenced in fragile X syndrome. PLoS ONE 3(1):e1486. doi: 10.1371/journal.pone.0001486
    • (2008) PLoS ONE , vol.3 , Issue.1 , pp. 1486
    • Khalil, A.M.1    Faghihi, M.A.2    Modarresi, F.3    Brothers, S.P.4    Wahlestedt, C.5
  • 104
    • 84863891601 scopus 로고    scopus 로고
    • Fragile X mental retardation protein: Past, present and future
    • 22708486 1:CAS:528:DC%2BC38Xht1ChurbL 10.2174/138920312801619420
    • Kim M, Ceman S (2012) Fragile X mental retardation protein: past, present and future. Curr Protein Pept Sci 13(4):358-371
    • (2012) Curr Protein Pept Sci , vol.13 , Issue.4 , pp. 358-371
    • Kim, M.1    Ceman, S.2
  • 105
    • 84862151933 scopus 로고    scopus 로고
    • The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease
    • 10.1016/j.brainres.2012.01.016 22445064 1:CAS:528:DC%2BC38Xot1ymsr8%3D 10.1016/j.brainres.2012.01.016
    • King OD, Gitler AD, Shorter J (2012) The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease. Brain Res 1462:61-80. doi: 10.1016/j.brainres.2012.01.016
    • (2012) Brain Res , vol.1462 , pp. 61-80
    • King, O.D.1    Gitler, A.D.2    Shorter, J.3
  • 106
    • 0030795653 scopus 로고    scopus 로고
    • The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing
    • 9279752 1:CAS:528:DyaK2sXmtVGgsrg%3D 10.1136/jmg.34.8.627
    • Kunst CB, Leeflang EP, Iber JC, Arnheim N, Warren ST (1997) The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing. J Med Genet 34(8):627-631
    • (1997) J Med Genet , vol.34 , Issue.8 , pp. 627-631
    • Kunst, C.B.1    Leeflang, E.P.2    Iber, J.C.3    Arnheim, N.4    Warren, S.T.5
  • 107
    • 36248967098 scopus 로고    scopus 로고
    • An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals
    • 10.1093/hmg/ddm293 17921506 1:CAS:528:DC%2BD2sXhtlajsrrK 10.1093/hmg/ddm293
    • Ladd PD, Smith LE, Rabaia NA, Moore JM, Georges SA, Hansen RS, Hagerman RJ, Tassone F, Tapscott SJ, Filippova GN (2007) An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum Mol Genet 16(24):3174-3187. doi: 10.1093/hmg/ddm293
    • (2007) Hum Mol Genet , vol.16 , Issue.24 , pp. 3174-3187
    • Ladd, P.D.1    Smith, L.E.2    Rabaia, N.A.3    Moore, J.M.4    Georges, S.A.5    Hansen, R.S.6    Hagerman, R.J.7    Tassone, F.8    Tapscott, S.J.9    Filippova, G.N.10
  • 108
    • 10344248903 scopus 로고    scopus 로고
    • The human DiGeorge syndrome critical region gene 8 and Its D. melanogaster homolog are required for miRNA biogenesis
    • 10.1016/j.cub.2004.11.001 15589161 1:CAS:528:DC%2BD2cXhtVKrtbvK 10.1016/j.cub.2004.11.001
    • Landthaler M, Yalcin A, Tuschl T (2004) The human DiGeorge syndrome critical region gene 8 and Its D. melanogaster homolog are required for miRNA biogenesis. Curr Biol 14(23):2162-2167. doi: 10.1016/j.cub.2004.11.001
    • (2004) Curr Biol , vol.14 , Issue.23 , pp. 2162-2167
    • Landthaler, M.1    Yalcin, A.2    Tuschl, T.3
  • 109
    • 0141843656 scopus 로고    scopus 로고
    • The nuclear RNase III Drosha initiates microRNA processing
    • 10.1038/nature01957 14508493 1:CAS:528:DC%2BD3sXnsV2kt7s%3D 10.1038/nature01957
    • Lee Y, Ahn C, Han J, Choi H, Kim J, Yim J, Lee J, Provost P, Radmark O, Kim S, Kim VN (2003) The nuclear RNase III Drosha initiates microRNA processing. Nature 425(6956):415-419. doi: 10.1038/nature01957
    • (2003) Nature , vol.425 , Issue.6956 , pp. 415-419
    • Lee, Y.1    Ahn, C.2    Han, J.3    Choi, H.4    Kim, J.5    Yim, J.6    Lee, J.7    Provost, P.8    Radmark, O.9    Kim, S.10    Kim, V.N.11
  • 110
    • 74249119235 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome: Clinical phenotype, diagnosis, and treatment
    • 10.231/JIM.0b013e3181af59c4 19574929
    • Leehey MA (2009) Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med. doi: 10.231/JIM. 0b013e3181af59c4
    • (2009) J Investig Med
    • Leehey, M.A.1
  • 111
    • 79961135207 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome
    • Vinken PJ, Bruyn GW (eds) 2011/08/11 edn. doi: 10.1016/B978-0-444-51892- 7.00023-1
    • Leehey MA, Hagerman PJ (2012) Fragile X-associated tremor/ataxia syndrome. In: Vinken PJ, Bruyn GW (eds) Handb Clin Neurol, vol 103. 2011/08/11 edn., pp 373-386. doi: 10.1016/B978-0-444-51892-7.00023-1
    • (2012) Handb Clin Neurol , vol.103 , pp. 373-386
    • Ma, L.1    Hagerman, P.J.2
  • 112
    • 84862790319 scopus 로고    scopus 로고
    • RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome
    • 10.1016/j.brainres.2012.02.057 22459047 1:CAS:528:DC%2BC38Xot1yntbk%3D 10.1016/j.brainres.2012.02.057
    • Li Y, Jin P (2012) RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome. Brain Res 1462:112-117. doi: 10.1016/j.brainres.2012. 02.057
    • (2012) Brain Res , vol.1462 , pp. 112-117
    • Li, Y.1    Jin, P.2
  • 113
    • 0035800434 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
    • 10.1126/science.1062125 11486088 1:CAS:528:DC%2BD3MXlvVKktbc%3D 10.1126/science.1062125
    • Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293(5531):864-867. doi: 10.1126/science.1062125
    • (2001) Science , vol.293 , Issue.5531 , pp. 864-867
    • Liquori, C.L.1    Ricker, K.2    Moseley, M.L.3    Jacobsen, J.F.4    Kress, W.5    Naylor, S.L.6    Day, J.W.7    Ranum, L.P.8
  • 116
    • 40649087410 scopus 로고    scopus 로고
    • A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes
    • 10.1136/jmg.2007.054171 18057083 1:CAS:528:DC%2BD1cXks1Wjsrc%3D 10.1136/jmg.2007.054171
    • Loesch DZ, Cook M, Litewka L, Gould E, Churchyard A, Tassone F, Slater HR, Storey E (2008) A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes. J Med Genet 45(3):179-181. doi: 10.1136/jmg.2007.054171
    • (2008) J Med Genet , vol.45 , Issue.3 , pp. 179-181
    • Loesch, D.Z.1    Cook, M.2    Litewka, L.3    Gould, E.4    Churchyard, A.5    Tassone, F.6    Slater, H.R.7    Storey, E.8
  • 118
    • 33645538015 scopus 로고    scopus 로고
    • Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: A clinical-pathological study
    • 10.1002/mds.20753 16250026 10.1002/mds.20753
    • Louis E, Moskowitz C, Friez M, Amaya M, Vonsattel JP (2006) Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study. Mov Disord 21(3):420-425. doi: 10.1002/mds.20753
    • (2006) Mov Disord , vol.21 , Issue.3 , pp. 420-425
    • Louis, E.1    Moskowitz, C.2    Friez, M.3    Amaya, M.4    Vonsattel, J.P.5
  • 119
    • 84869025102 scopus 로고    scopus 로고
    • Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice
    • 10.1093/hmg/dds348 22914733 1:CAS:528:DC%2BC38Xhs1Ghtr7P 10.1093/hmg/dds348
    • Lu C, Lin L, Tan H, Wu H, Sherman SL, Gao F, Jin P, Chen D (2012) Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice. Hum Mol Genet 21(23):5039-5047. doi: 10.1093/hmg/dds348
    • (2012) Hum Mol Genet , vol.21 , Issue.23 , pp. 5039-5047
    • Lu, C.1    Lin, L.2    Tan, H.3    Wu, H.4    Sherman, S.L.5    Gao, F.6    Jin, P.7    Chen, D.8
  • 120
    • 0029123145 scopus 로고
    • Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome
    • 10.1038/ng0895-483 7670500 1:STN:280:DyaK2MvgtVegsQ%3D%3D 10.1038/ng0895-483
    • Lugenbeel KA, Peier AM, Carson NL, Chudley AE, Nelson DL (1995) Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nat Genet 10(4):483-485. doi: 10.1038/ng0895-483
    • (1995) Nat Genet , vol.10 , Issue.4 , pp. 483-485
    • Lugenbeel, K.A.1    Peier, A.M.2    Carson, N.L.3    Chudley, A.E.4    Nelson, D.L.5
  • 121
    • 84866335840 scopus 로고    scopus 로고
    • Myotonic dystrophy: Is a narrow focus obscuring the rest of the field?
    • 10.1097/WCO.0b013e328357b0d9 22892953 1:CAS:528:DC%2BC38XhtlemsLrK 10.1097/WCO.0b013e328357b0d9
    • Mahadevan MS (2012) Myotonic dystrophy: is a narrow focus obscuring the rest of the field? Curr Opin Neurol 25(5):609-613. doi: 10.1097/WCO. 0b013e328357b0d9
    • (2012) Curr Opin Neurol , vol.25 , Issue.5 , pp. 609-613
    • Mahadevan, M.S.1
  • 123
    • 13744260562 scopus 로고    scopus 로고
    • Facile FMR1 mRNA structure regulation by interruptions in CGG repeats
    • 10.1093/nar/gki186 15659577 1:CAS:528:DC%2BD2MXhtV2qsbo%3D 10.1093/nar/gki186
    • Napierala M, Michalowski D, de Mezer M, Krzyzosiak WJ (2005) Facile FMR1 mRNA structure regulation by interruptions in CGG repeats. Nucleic Acids Res 33(2):451-463. doi: 10.1093/nar/gki186
    • (2005) Nucleic Acids Res , vol.33 , Issue.2 , pp. 451-463
    • Napierala, M.1    Michalowski, D.2    De Mezer, M.3    Krzyzosiak, W.J.4
  • 126
    • 79953745706 scopus 로고    scopus 로고
    • Repeat associated non-ATG translation initiation: One DNA, two transcripts, seven reading frames, potentially nine toxic entities!
    • 10.1371/journal.pgen.1002018 21423665 1:CAS:528:DC%2BC3MXjslKlsLc%3D 10.1371/journal.pgen.1002018
    • Pearson CE (2011) Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities! PLoS Genet 7(3):e1002018. doi: 10.1371/journal.pgen.1002018
    • (2011) PLoS Genet , vol.7 , Issue.3 , pp. 1002018
    • Pearson, C.E.1
  • 127
    • 0032562132 scopus 로고    scopus 로고
    • Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation
    • 10.1021/bi972546c 9485421 1:CAS:528:DyaK1cXotFGqsw%3D%3D 10.1021/bi972546c
    • Pearson CE, Eichler EE, Lorenzetti D, Kramer SF, Zoghbi HY, Nelson DL, Sinden RR (1998) Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry 37(8):2701-2708. doi: 10.1021/bi972546c
    • (1998) Biochemistry , vol.37 , Issue.8 , pp. 2701-2708
    • Pearson, C.E.1    Eichler, E.E.2    Lorenzetti, D.3    Kramer, S.F.4    Zoghbi, H.Y.5    Nelson, D.L.6    Sinden, R.R.7
  • 128
    • 64549113058 scopus 로고    scopus 로고
    • Protein components of the microRNA pathway and human diseases
    • 10.1007/978-1-60327-547-7-18 19301657 1:CAS:528:DC%2BD1MXhtlertLw%3D
    • Perron MP, Provost P (2009) Protein components of the microRNA pathway and human diseases. Methods Mol Biol 487:369-385. doi: 10.1007/978-1-60327-547- 7-18
    • (2009) Methods Mol Biol , vol.487 , pp. 369-385
    • Perron, M.P.1    Provost, P.2
  • 129
    • 0025833298 scopus 로고
    • Absence of expression of the FMR-1 gene in fragile X syndrome
    • 1878973 1:CAS:528:DyaK3MXlslKmsrc%3D 10.1016/0092-8674(91)90125-I
    • Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66(4):817-822
    • (1991) Cell , vol.66 , Issue.4 , pp. 817-822
    • Pieretti, M.1    Zhang, F.P.2    Fu, Y.H.3    Warren, S.T.4    Oostra, B.A.5    Caskey, C.T.6    Nelson, D.L.7
  • 130
    • 79751535827 scopus 로고    scopus 로고
    • A mouse model of the fragile X premutation: Effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis
    • 10.1016/j.nbd.2011.01.008 21220020 1:CAS:528:DC%2BC3MXhvFWhtbY%3D 10.1016/j.nbd.2011.01.008
    • Qin M, Entezam A, Usdin K, Huang T, Liu ZH, Hoffman GE, Smith CB (2011) A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis. Neurobiol Dis 42(1):85-98. doi: 10.1016/j.nbd.2011.01.008
    • (2011) Neurobiol Dis , vol.42 , Issue.1 , pp. 85-98
    • Qin, M.1    Entezam, A.2    Usdin, K.3    Huang, T.4    Liu, Z.H.5    Hoffman, G.E.6    Smith, C.B.7
  • 131
    • 84878967069 scopus 로고    scopus 로고
    • Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus
    • 10.1016/j.nmd.2013.02.013 23561036
    • Radvanszky J, Surovy M, Polak E, Kadasi L (2013) Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus. Neuromuscul Disord. doi: 10.1016/j.nmd.2013.02.013
    • (2013) Neuromuscul Disord
    • Radvanszky, J.1    Surovy, M.2    Polak, E.3    Kadasi, L.4
  • 132
    • 84894428985 scopus 로고    scopus 로고
    • Neurodevelopmental disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansions
    • 10.1177/0883073812469723 23266944
    • Renda MM, Voigt RG, Babovic-Vuksanovic D, Highsmith WE, Vinson SS, Sadowski CM, Hagerman RJ (2012) Neurodevelopmental disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansions. J Child Neurol. doi: 10.1177/0883073812469723
    • (2012) J Child Neurol
    • Renda, M.M.1    Voigt, R.G.2    Babovic-Vuksanovic, D.3    Highsmith, W.E.4    Vinson, S.S.5    Sadowski, C.M.6    Hagerman, R.J.7
  • 133
    • 84860653372 scopus 로고    scopus 로고
    • Neurodegeneration the RNA way
    • 10.1016/j.pneurobio.2011.10.006 22079416 1:CAS:528:DC%2BC38Xnt1Cjsr8%3D 10.1016/j.pneurobio.2011.10.006
    • Renoux AJ, Todd PK (2012) Neurodegeneration the RNA way. Prog Neurobiol 97(2):173-189. doi: 10.1016/j.pneurobio.2011.10.006
    • (2012) Prog Neurobiol , vol.97 , Issue.2 , pp. 173-189
    • Renoux, A.J.1    Todd, P.K.2
  • 135
    • 50349103445 scopus 로고    scopus 로고
    • Evidence of depressive symptoms in fragile-X syndrome premutated females
    • 18628675 10.1097/YPG.0b013e3282f97e0b
    • Rodriguez-Revenga L, Madrigal I, Alegret M, Santos M, Mila M (2008) Evidence of depressive symptoms in fragile-X syndrome premutated females. Psychiatr Genet 18(4):153-155
    • (2008) Psychiatr Genet , vol.18 , Issue.4 , pp. 153-155
    • Rodriguez-Revenga, L.1    Madrigal, I.2    Alegret, M.3    Santos, M.4    Mila, M.5
  • 137
    • 34447261382 scopus 로고    scopus 로고
    • Cerebellar neurodegeneration in the absence of microRNAs
    • 10.1084/jem.20070823 17606634 1:CAS:528:DC%2BD2sXnslylsr8%3D 10.1084/jem.20070823
    • Schaefer A, O'Carroll D, Tan CL, Hillman D, Sugimori M, Llinas R, Greengard P (2007) Cerebellar neurodegeneration in the absence of microRNAs. J Exp Med 204(7):1553-1558. doi: 10.1084/jem.20070823
    • (2007) J Exp Med , vol.204 , Issue.7 , pp. 1553-1558
    • Schaefer, A.1    O'Carroll, D.2    Tan, C.L.3    Hillman, D.4    Sugimori, M.5    Llinas, R.6    Greengard, P.7
  • 138
    • 84865686138 scopus 로고    scopus 로고
    • Distribution and frequency of intranuclear inclusions in female CGG KI mice modeling the fragile X premutation
    • 10.1016/j.brainres.2012.06.052 22796595 1:CAS:528:DC%2BC38Xht1enurzI 10.1016/j.brainres.2012.06.052
    • Schluter EW, Hunsaker MR, Greco CM, Willemsen R, Berman RF (2012) Distribution and frequency of intranuclear inclusions in female CGG KI mice modeling the fragile X premutation. Brain Res 1472:124-137. doi: 10.1016/j.brainres.2012.06.052
    • (2012) Brain Res , vol.1472 , pp. 124-137
    • Schluter, E.W.1    Hunsaker, M.R.2    Greco, C.M.3    Willemsen, R.4    Berman, R.F.5
  • 139
    • 79953278448 scopus 로고    scopus 로고
    • Monoallelic deletion of the microRNA biogenesis gene Dgcr8 produces deficits in the development of excitatory synaptic transmission in the prefrontal cortex
    • 10.1186/1749-8104-6-11 21466685 1:CAS:528:DC%2BC3MXkvFGru78%3D 10.1186/1749-8104-6-11
    • Schofield CM, Hsu R, Barker AJ, Gertz CC, Blelloch R, Ullian EM (2011) Monoallelic deletion of the microRNA biogenesis gene Dgcr8 produces deficits in the development of excitatory synaptic transmission in the prefrontal cortex. Neural Dev 6:11. doi: 10.1186/1749-8104-6-11
    • (2011) Neural Dev , vol.6 , pp. 11
    • Schofield, C.M.1    Hsu, R.2    Barker, A.J.3    Gertz, C.C.4    Blelloch, R.5    Ullian, E.M.6
  • 142
    • 84872153352 scopus 로고    scopus 로고
    • Differential sensitivity to life stress in FMR1 premutation carrier mothers of children with fragile X syndrome
    • 10.1037/a0026528 22149120 10.1037/a0026528
    • Seltzer MM, Barker ET, Greenberg JS, Hong J, Coe C, Almeida D (2012) Differential sensitivity to life stress in FMR1 premutation carrier mothers of children with fragile X syndrome. Health Psychol 31(5):612-622. doi: 10.1037/a0026528
    • (2012) Health Psychol , vol.31 , Issue.5 , pp. 612-622
    • Seltzer, M.M.1    Barker, E.T.2    Greenberg, J.S.3    Hong, J.4    Coe, C.5    Almeida, D.6
  • 145
    • 0029896683 scopus 로고    scopus 로고
    • Molecular/clinical correlations in females with fragile X
    • 10.1002/(SICI)1096-8628(19960809)64:2<340: AID-AJMG21>3.0.CO;2-E 8844077 1:STN:280:DyaK2s%2FgtFSntQ%3D%3D 10.1002/(SICI)1096-8628(19960809)64: 2<340: AID-AJMG21>3.0.CO;2-E
    • Sobesky WE, Taylor AK, Pennington BF, Bennetto L, Porter D, Riddle J, Hagerman RJ (1996) Molecular/clinical correlations in females with fragile X. Am J Med Genet 64(2):340-345. doi: 10.1002/(SICI)1096-8628(19960809)64:2<340: AID-AJMG21>3.0.CO;2-E
    • (1996) Am J Med Genet , vol.64 , Issue.2 , pp. 340-345
    • Sobesky, W.E.1    Taylor, A.K.2    Pennington, B.F.3    Bennetto, L.4    Porter, D.5    Riddle, J.6    Hagerman, R.J.7
  • 146
    • 34547697173 scopus 로고    scopus 로고
    • RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS
    • 10.1016/j.neuron.2007.07.021 17698010 1:CAS:528:DC%2BD2sXpslKqsb0%3D 10.1016/j.neuron.2007.07.021
    • Sofola OA, Jin P, Qin Y, Duan R, Liu H, de Haro M, Nelson DL, Botas J (2007) RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron 55(4):565-571. doi: 10.1016/j.neuron.2007.07.021
    • (2007) Neuron , vol.55 , Issue.4 , pp. 565-571
    • Sofola, O.A.1    Jin, P.2    Qin, Y.3    Duan, R.4    Liu, H.5    De Haro, M.6    Nelson, D.L.7    Botas, J.8
  • 148
    • 43949124669 scopus 로고    scopus 로고
    • Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
    • 10.1038/ng.138 18469815 1:CAS:528:DC%2BD1cXmsVejsL0%3D 10.1038/ng.138
    • Stark KL, Xu B, Bagchi A, Lai WS, Liu H, Hsu R, Wan X, Pavlidis P, Mills AA, Karayiorgou M, Gogos JA (2008) Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model. Nat Genet 40(6):751-760. doi: 10.1038/ng.138
    • (2008) Nat Genet , vol.40 , Issue.6 , pp. 751-760
    • Stark, K.L.1    Xu, B.2    Bagchi, A.3    Lai, W.S.4    Liu, H.5    Hsu, R.6    Wan, X.7    Pavlidis, P.8    Mills, A.A.9    Karayiorgou, M.10    Gogos, J.A.11
  • 149
    • 84856604388 scopus 로고    scopus 로고
    • FMR1 and the continuum of primary ovarian insufficiency
    • 10.1055/s-0031-1280915 21969264 10.1055/s-0031-1280915
    • Sullivan SD, Welt C, Sherman S (2011) FMR1 and the continuum of primary ovarian insufficiency. Semin Reprod Med 29(4):299-307. doi: 10.1055/s-0031- 1280915
    • (2011) Semin Reprod Med , vol.29 , Issue.4 , pp. 299-307
    • Sullivan, S.D.1    Welt, C.2    Sherman, S.3
  • 150
    • 33947722883 scopus 로고    scopus 로고
    • Elevated FMR1 mRNA in premutation carriers is due to increased transcription
    • 10.1261/rna.280807 17283214 1:CAS:528:DC%2BD2sXkt1ChtLg%3D 10.1261/rna.280807
    • Tassone F, Beilina A, Carosi C, Albertosi S, Bagni C, Li L, Glover K, Bentley D, Hagerman PJ (2007) Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 13(4):555-562. doi: 10.1261/rna.280807
    • (2007) RNA , vol.13 , Issue.4 , pp. 555-562
    • Tassone, F.1    Beilina, A.2    Carosi, C.3    Albertosi, S.4    Bagni, C.5    Li, L.6    Glover, K.7    Bentley, D.8    Hagerman, P.J.9
  • 151
    • 84863195737 scopus 로고    scopus 로고
    • Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS
    • 10.1111/j.1601-183X.2012.00779.x 22463693 1:STN:280: DC%2BC38rhtVOitw%3D%3D 10.1111/j.1601-183X.2012.00779.x
    • Tassone F, Greco CM, Hunsaker MR, Seritan AL, Berman RF, Gane LW, Jacquemont S, Basuta K, Jin LW, Hagerman PJ, Hagerman RJ (2012) Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. Genes Brain Behav 11(5):577-585. doi: 10.1111/j.1601-183X.2012.00779.x
    • (2012) Genes Brain Behav , vol.11 , Issue.5 , pp. 577-585
    • Tassone, F.1    Greco, C.M.2    Hunsaker, M.R.3    Seritan, A.L.4    Berman, R.F.5    Gane, L.W.6    Jacquemont, S.7    Basuta, K.8    Jin, L.W.9    Hagerman, P.J.10    Hagerman, R.J.11
  • 152
    • 80455158035 scopus 로고    scopus 로고
    • The fragile X-associated tremor ataxia syndrome
    • 10.1007/978-3-642-21649-7-18 22009361 1:CAS:528:DC%2BC3sXkvVGitA%3D%3D 10.1007/978-3-642-21649-7-18
    • Tassone F, Hagerman R (2012) The fragile X-associated tremor ataxia syndrome. Results Probl Cell Differ 54:337-357. doi: 10.1007/978-3-642-21649-7- 18
    • (2012) Results Probl Cell Differ , vol.54 , pp. 337-357
    • Tassone, F.1    Hagerman, R.2
  • 153
    • 0034526068 scopus 로고    scopus 로고
    • Transcription of the FMR1 gene in individuals with fragile X syndrome
    • 10.1002/1096-8628(200023)97:3<195: AID-AJMG1037>3.0.CO;2-R 11449488 1:STN:280:DC%2BD3Mzpsl2guw%3D%3D 10.1002/1096-8628(200023)97:3<195: AID-AJMG1037>3.0.CO;2-R
    • Tassone F, Hagerman RJ, Chamberlain WD, Hagerman PJ (2000) Transcription of the FMR1 gene in individuals with fragile X syndrome. Am J Med Genet 97(3):195-203. doi: 10.1002/1096-8628(200023)97:3<195:AID-AJMG1037>3.0. CO;2-R
    • (2000) Am J Med Genet , vol.97 , Issue.3 , pp. 195-203
    • Tassone, F.1    Hagerman, R.J.2    Chamberlain, W.D.3    Hagerman, P.J.4
  • 154
    • 0034684031 scopus 로고    scopus 로고
    • Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA
    • 10995510 1:STN:280:DC%2BD3cvks1ahuw%3D%3D 10.1002/1096-8628(20000918)94: 3<232: AID-AJMG9>3.0.CO;2-H
    • Tassone F, Hagerman RJ, Loesch DZ, Lachiewicz A, Taylor AK, Hagerman PJ (2000) Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am J Med Genet 94(3):232-236
    • (2000) Am J Med Genet , vol.94 , Issue.3 , pp. 232-236
    • Tassone, F.1    Hagerman, R.J.2    Loesch, D.Z.3    Lachiewicz, A.4    Taylor, A.K.5    Hagerman, P.J.6
  • 155
    • 0034945678 scopus 로고    scopus 로고
    • A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA
    • 11432964 1:CAS:528:DC%2BD3MXlvVCktb0%3D 10.1136/jmg.38.7.453
    • Tassone F, Hagerman RJ, Taylor AK, Hagerman PJ (2001) A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA. J Med Genet 38(7):453-456
    • (2001) J Med Genet , vol.38 , Issue.7 , pp. 453-456
    • Tassone, F.1    Hagerman, R.J.2    Taylor, A.K.3    Hagerman, P.J.4
  • 156
    • 0034016083 scopus 로고    scopus 로고
    • Clinical involvement and protein expression in individuals with the FMR1 premutation
    • 10748416 1:STN:280:DC%2BD3c3htlajsw%3D%3D 10.1002/(SICI)1096- 8628(20000313)91:2<144: AID-AJMG14>3.0.CO;2-V
    • Tassone F, Hagerman RJ, Taylor AK, Mills JB, Harris SW, Gane LW, Hagerman PJ (2000) Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet 91(2):144-152
    • (2000) Am J Med Genet , vol.91 , Issue.2 , pp. 144-152
    • Tassone, F.1    Hagerman, R.J.2    Taylor, A.K.3    Mills, J.B.4    Harris, S.W.5    Gane, L.W.6    Hagerman, P.J.7
  • 157
    • 23944431645 scopus 로고    scopus 로고
    • FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
    • 17179750 1:CAS:528:DC%2BD2MXlsFSrtrc%3D 10.4161/rna.1.2.1035
    • Tassone F, Iwahashi C, Hagerman PJ (2004) FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol 1(2):103-105
    • (2004) RNA Biol , vol.1 , Issue.2 , pp. 103-105
    • Tassone, F.1    Iwahashi, C.2    Hagerman, P.J.3
  • 159
    • 84866436425 scopus 로고    scopus 로고
    • The myotonic dystrophies: Molecular, clinical, and therapeutic challenges
    • 10.1016/S1474-4422(12)70204-1 22995693 1:CAS:528:DC%2BC38XhsVSns7fK 10.1016/S1474-4422(12)70204-1
    • Udd B, Krahe R (2012) The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol 11(10):891-905. doi: 10.1016/S1474- 4422(12)70204-1
    • (2012) Lancet Neurol , vol.11 , Issue.10 , pp. 891-905
    • Udd, B.1    Krahe, R.2
  • 160
    • 20444447397 scopus 로고    scopus 로고
    • Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS)
    • 10.1016/j.bbr.2005.03.007 15876460 10.1016/j.bbr.2005.03.007 1:CAS:528:DC%2BD2MXlsVCjsrw%3D
    • Van Dam D, Errijgers V, Kooy RF, Willemsen R, Mientjes E, Oostra BA, De Deyn PP (2005) Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS). Behav Brain Res 162(2):233-239. doi: 10.1016/j.bbr.2005.03.007
    • (2005) Behav Brain Res , vol.162 , Issue.2 , pp. 233-239
    • Van Dam, D.1    Errijgers, V.2    Kooy, R.F.3    Willemsen, R.4    Mientjes, E.5    Oostra, B.A.6    De Deyn, P.P.7
  • 163
    • 84859966683 scopus 로고    scopus 로고
    • Age-dependent structural connectivity effects in fragile x premutation
    • 10.1001/archneurol.2011.2023 22491193 10.1001/archneurol.2011.2023
    • Wang JY, Hessl DH, Hagerman RJ, Tassone F, Rivera SM (2012) Age-dependent structural connectivity effects in fragile x premutation. Arch Neurol 69(4):482-489. doi: 10.1001/archneurol.2011.2023
    • (2012) Arch Neurol , vol.69 , Issue.4 , pp. 482-489
    • Wang, J.Y.1    Hessl, D.H.2    Hagerman, R.J.3    Tassone, F.4    Rivera, S.M.5
  • 164
    • 0034175916 scopus 로고    scopus 로고
    • Interruption of the fragile X syndrome expanded sequence d(CGG)(n) by interspersed d(AGG) trinucleotides diminishes the formation and stability of d(CGG)(n) tetrahelical structures
    • 10710419 1:CAS:528:DC%2BD3cXitlGnu78%3D 10.1093/nar/28.7.1535
    • Weisman-Shomer P, Cohen E, Fry M (2000) Interruption of the fragile X syndrome expanded sequence d(CGG)(n) by interspersed d(AGG) trinucleotides diminishes the formation and stability of d(CGG)(n) tetrahelical structures. Nucleic Acids Res 28(7):1535-1541
    • (2000) Nucleic Acids Res , vol.28 , Issue.7 , pp. 1535-1541
    • Weisman-Shomer, P.1    Cohen, E.2    Fry, M.3
  • 165
    • 76449105593 scopus 로고    scopus 로고
    • Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation
    • 10.1016/j.brainres.2009.12.077 20051238 1:CAS:528:DC%2BC3cXitlWksLk%3D 10.1016/j.brainres.2009.12.077
    • Wenzel HJ, Hunsaker MR, Greco CM, Willemsen R, Berman RF (2010) Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation. Brain Res 1318:155-166. doi: 10.1016/j.brainres.2009.12.077
    • (2010) Brain Res , vol.1318 , pp. 155-166
    • Wenzel, H.J.1    Hunsaker, M.R.2    Greco, C.M.3    Willemsen, R.4    Berman, R.F.5
  • 169
    • 84864648965 scopus 로고    scopus 로고
    • AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome
    • 10.1038/gim.2012.34 22498846 1:CAS:528:DC%2BC38XhtFKju7bE 10.1038/gim.2012.34
    • Yrigollen CM, Durbin-Johnson B, Gane L, Nelson DL, Hagerman R, Hagerman PJ, Tassone F (2012) AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med 14(8):729-736. doi: 10.1038/gim.2012.34
    • (2012) Genet Med , vol.14 , Issue.8 , pp. 729-736
    • Yrigollen, C.M.1    Durbin-Johnson, B.2    Gane, L.3    Nelson, D.L.4    Hagerman, R.5    Hagerman, P.J.6    Tassone, F.7
  • 170
    • 0029017085 scopus 로고
    • Fragile X gene instability: Anchoring AGGs and linked microsatellites
    • 7668261 1:CAS:528:DyaK2MXotFOjtrc%3D
    • Zhong N, Yang W, Dobkin C, Brown WT (1995) Fragile X gene instability: anchoring AGGs and linked microsatellites. Am J Hum Genet 57(2):351-361
    • (1995) Am J Hum Genet , vol.57 , Issue.2 , pp. 351-361
    • Zhong, N.1    Yang, W.2    Dobkin, C.3    Brown, W.T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.