메뉴 건너뛰기




Volumn 6, Issue 1, 2014, Pages

The multiple molecular facets of fragile X-associated tremor/ataxia syndrome

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; MESSENGER RNA;

EID: 84960087872     PISSN: 18661947     EISSN: 18661955     Source Type: Journal    
DOI: 10.1186/1866-1955-6-23     Document Type: Review
Times cited : (38)

References (84)
  • 11
    • 33947268037 scopus 로고    scopus 로고
    • Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome
    • 1:CAS:528:DC%2BD2sXksVantL0%3D 17382748
    • Greco CM, Soontrapornchai K, Wirojanan J, Gould JE, Hagerman PJ, Hagerman RJ: Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. J Urol 2007, 177:1434-1437.
    • (2007) J Urol , vol.177 , 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
  • 13
    • 0035394437 scopus 로고    scopus 로고
    • Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
    • 1:CAS:528:DC%2BD3MXlsFOgurs%3D 11448936
    • Kenneson A, Zhang F, Hagedorn CH, Warren ST: Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 2001, 10:1449-1454.
    • (2001) Hum Mol Genet , vol.10 , pp. 1449-1454
    • Kenneson, A.1    Zhang, F.2    Hagedorn, C.H.3    Warren, S.T.4
  • 15
    • 0033940157 scopus 로고    scopus 로고
    • Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
    • 1288349 1:CAS:528:DC%2BD3cXhtVWks74%3D 10631132
    • Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ: Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 2000, 66:6-15.
    • (2000) Am J Hum Genet , vol.66 , pp. 6-15
    • Tassone, F.1    Hagerman, R.J.2    Taylor, A.K.3    Gane, L.W.4    Godfrey, T.E.5    Hagerman, P.J.6
  • 16
    • 76149090495 scopus 로고    scopus 로고
    • Examination of FMR1 transcript and protein levels among 74 premutation carriers
    • 4122982 1:CAS:528:DC%2BC3cXpslensw%3D%3D 19927162
    • Peprah E, He W, Allen E, Oliver T, Boyne A, Sherman SL: Examination of FMR1 transcript and protein levels among 74 premutation carriers. J Hum Genet 2010, 55:66-68.
    • (2010) J Hum Genet , vol.55 , pp. 66-68
    • Peprah, E.1    He, W.2    Allen, E.3    Oliver, T.4    Boyne, A.5    Sherman, S.L.6
  • 18
    • 0041880131 scopus 로고    scopus 로고
    • RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
    • 1:CAS:528:DC%2BD3sXnt1Wku74%3D 12948442
    • Jin P, Zarnescu DC, Zhang F, Pearson CE, Lucchesi JC, Moses K, Warren ST: RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 2003, 39:739-747.
    • (2003) Neuron , vol.39 , 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
  • 20
    • 18144402411 scopus 로고    scopus 로고
    • Long CGG-repeat tracts are toxic to human cells: Implications for carriers of Fragile X premutation alleles
    • 1:CAS:528:DC%2BD2MXjvVOgsrg%3D 15862312
    • Handa V, Goldwater D, Stiles D, Cam M, Poy G, Kumari D, Usdin K: Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles. FEBS Lett 2005, 579:2702-2708.
    • (2005) FEBS Lett , vol.579 , pp. 2702-2708
    • Handa, V.1    Goldwater, D.2    Stiles, D.3    Cam, M.4    Poy, G.5    Kumari, D.6    Usdin, K.7
  • 21
    • 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
    • 1950257 1:CAS:528:DC%2BD2sXkvFWrtbk%3D 17442505
    • Entezam A, Biacsi R, Orrison B, Saha T, Hoffman GE, Grabczyk E, Nussbaum RL, Usdin K: Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. Gene 2007, 395:125-134.
    • (2007) Gene , vol.395 , 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
  • 22
    • 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
    • 1:CAS:528:DC%2BD2MXht1GgsrvI 16239243
    • Arocena DG, Iwahashi CK, Won N, Beilina A, Ludwig AL, Tassone F, Schwartz PH, Hagerman PJ: Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum Mol Genet 2005, 14:3661-3671.
    • (2005) Hum Mol Genet , vol.14 , 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
  • 23
    • 84862250175 scopus 로고    scopus 로고
    • Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers
    • 4286243 22161987
    • Hall D, Tassone F, Klepitskaya O, Leehey M: Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Mov Disord 2012, 27:296-300.
    • (2012) Mov Disord , vol.27 , pp. 296-300
    • Hall, D.1    Tassone, F.2    Klepitskaya, O.3    Leehey, M.4
  • 24
    • 84879794084 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers
    • 1:CAS:528:DC%2BC3sXht1KhtbvM 23009394
    • Liu Y, Winarni TI, Zhang L, Tassone F, Hagerman RJ: Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers. Clin Genet 2013, 84:74-77.
    • (2013) Clin Genet , vol.84 , pp. 74-77
    • Liu, Y.1    Winarni, T.I.2    Zhang, L.3    Tassone, F.4    Hagerman, R.J.5
  • 25
    • 84862241820 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene
    • 1:CAS:528:DC%2BC38Xht1Glsr3I 21476992
    • Loesch DZ, Sherwell S, Kinsella G, Tassone F, Taylor A, Amor D, Sung S, Evans A: Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene. Clin Genet 2012, 82:88-92.
    • (2012) Clin Genet , vol.82 , pp. 88-92
    • Loesch, D.Z.1    Sherwell, S.2    Kinsella, G.3    Tassone, F.4    Taylor, A.5    Amor, D.6    Sung, S.7    Evans, A.8
  • 28
    • 79961128595 scopus 로고    scopus 로고
    • CGG repeat in the FMR1 gene: Size matters
    • 3151325 1:CAS:528:DC%2BC3MXht1Srtb7L 21651511
    • Willemsen R, Levenga J, Oostra BA: CGG repeat in the FMR1 gene: size matters. Clin Genet 2011, 80:214-225.
    • (2011) Clin Genet , vol.80 , pp. 214-225
    • Willemsen, R.1    Levenga, J.2    Oostra, B.A.3
  • 29
    • 84862790319 scopus 로고    scopus 로고
    • RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome
    • 3372578 1:CAS:528:DC%2BC38Xot1yntbk%3D 22459047
    • Li Y, Jin P: RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome. Brain Res 2012, 1462:112-117.
    • (2012) Brain Res , vol.1462 , pp. 112-117
    • Li, Y.1    Jin, P.2
  • 30
    • 84880359647 scopus 로고    scopus 로고
    • Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome
    • 3922535 1:CAS:528:DC%2BC3sXhtFWjurjF 23867198
    • Hagerman R, Hagerman P: Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol 2013, 12:786-798.
    • (2013) Lancet Neurol , vol.12 , pp. 786-798
    • Hagerman, R.1    Hagerman, P.2
  • 31
    • 77953884301 scopus 로고    scopus 로고
    • Advances in understanding the molecular basis of FXTAS
    • 2875053 1:CAS:528:DC%2BC3cXmsVSrtrg%3D 20430935
    • Garcia-Arocena D, Hagerman PJ: Advances in understanding the molecular basis of FXTAS. Hum Mol Genet 2010, 19:R83-R89.
    • (2010) Hum Mol Genet , vol.19 , pp. R83-R89
    • Garcia-Arocena, D.1    Hagerman, P.J.2
  • 34
    • 84864648965 scopus 로고    scopus 로고
    • AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome
    • 3990283 1:CAS:528:DC%2BC38XhtFKju7bE 22498846
    • Yrigollen CM, Durbin-Johnson B, Gane L, Nelson DL, Hagerman R, Hagerman PJ, Tassone F: AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med 2012, 14:729-736.
    • (2012) Genet Med , vol.14 , 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
  • 35
    • 38349086718 scopus 로고    scopus 로고
    • A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy
    • 1:CAS:528:DC%2BD1cXnt1Chuw%3D%3D 17971832
    • Tabolacci E, Pomponi MG, Pietrobono R, Chiurazzi P, Neri G: A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy. Eur J Hum Genet 2008, 16:209-214.
    • (2008) Eur J Hum Genet , vol.16 , pp. 209-214
    • Tabolacci, E.1    Pomponi, M.G.2    Pietrobono, R.3    Chiurazzi, P.4    Neri, G.5
  • 36
    • 84871618769 scopus 로고    scopus 로고
    • Somatic expansion in mouse and human carriers of fragile X premutation alleles
    • 3524353 1:CAS:528:DC%2BC3sXit1en 22887750
    • Lokanga RA, Entezam A, Kumari D, Yudkin D, Qin M, Smith CB, Usdin K: Somatic expansion in mouse and human carriers of fragile X premutation alleles. Hum Mutat 2013, 34:157-166.
    • (2013) Hum Mutat , vol.34 , pp. 157-166
    • Lokanga, R.A.1    Entezam, A.2    Kumari, D.3    Yudkin, D.4    Qin, M.5    Smith, C.B.6    Usdin, K.7
  • 39
    • 78751627969 scopus 로고    scopus 로고
    • Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening
    • 1:CAS:528:DC%2BC3cXksl2murc%3D 20168238
    • Hantash FM, Goos DG, Tsao D, Quan F, Buller-Burckle A, Peng M, Jarvis M, Sun W, Strom CM: Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening. Genet Med 2010, 12:162-173.
    • (2010) Genet Med , vol.12 , pp. 162-173
    • Hantash, F.M.1    Goos, D.G.2    Tsao, D.3    Quan, F.4    Buller-Burckle, A.5    Peng, M.6    Jarvis, M.7    Sun, W.8    Strom, C.M.9
  • 41
    • 34250878426 scopus 로고    scopus 로고
    • Expandable DNA repeats and human disease
    • 1:CAS:528:DC%2BD2sXms12jsrc%3D 17581576
    • Mirkin SM: Expandable DNA repeats and human disease. Nature 2007, 447:932-940.
    • (2007) Nature , vol.447 , pp. 932-940
    • Mirkin, S.M.1
  • 42
    • 0028874391 scopus 로고
    • CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro
    • 307363 1:CAS:528:DyaK2MXpsFehsrg%3D 7479085
    • Usdin K, Woodford KJ: CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro. Nucleic Acids Res 1995, 23:4202-4209.
    • (1995) Nucleic Acids Res , vol.23 , pp. 4202-4209
    • Usdin, K.1    Woodford, K.J.2
  • 43
    • 59649105477 scopus 로고    scopus 로고
    • Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility
    • 2837601 1:CAS:528:DC%2BD1MXktVehsA%3D%3D 19136957
    • Voineagu I, Surka CF, Shishkin AA, Krasilnikova MM, Mirkin SM: Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility. Nat Struct Mol Biol 2009, 16:226-228.
    • (2009) Nat Struct Mol Biol , vol.16 , pp. 226-228
    • Voineagu, I.1    Surka, C.F.2    Shishkin, A.A.3    Krasilnikova, M.M.4    Mirkin, S.M.5
  • 45
    • 39549086548 scopus 로고    scopus 로고
    • ATR protects the genome against CGG. CCG-repeat expansion in Fragile X premutation mice
    • 2241920 1:CAS:528:DC%2BD1cXitVKkt74%3D 18160412
    • Entezam A, Usdin K: ATR protects the genome against CGG. CCG-repeat expansion in Fragile X premutation mice. Nucleic Acids Res 2008, 36:1050-1056.
    • (2008) Nucleic Acids Res , vol.36 , pp. 1050-1056
    • Entezam, A.1    Usdin, K.2
  • 46
    • 71049195737 scopus 로고    scopus 로고
    • ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice
    • 2770655 1:CAS:528:DC%2BD1MXhtlGju7rE 19710035
    • Entezam A, Usdin K: ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice. Nucleic Acids Res 2009, 37:6371-6377.
    • (2009) Nucleic Acids Res , vol.37 , pp. 6371-6377
    • Entezam, A.1    Usdin, K.2
  • 47
    • 77951773059 scopus 로고    scopus 로고
    • Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model
    • 2951473 1:CAS:528:DC%2BC3cXnt1Cjtbo%3D 20213777
    • Entezam A, Lokanga AR, Le W, Hoffman G, Usdin K: Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model. Hum Mutat 2010, 31:611-616.
    • (2010) Hum Mutat , vol.31 , pp. 611-616
    • Entezam, A.1    Lokanga, A.R.2    Le, W.3    Hoffman, G.4    Usdin, K.5
  • 48
    • 84890803414 scopus 로고    scopus 로고
    • The mismatch repair protein MSH2 is rate-limiting for repeat expansion in a Fragile X premutation mouse model
    • [Epub ahead of print]
    • Lokanga RA, Zhao X-N, Usdin K: The mismatch repair protein MSH2 is rate-limiting for repeat expansion in a Fragile X premutation mouse model. Hum Mutat 2013. doi: 10.1002/humu.22464. [Epub ahead of print]
    • (2013) Hum Mutat
    • Lokanga, R.A.1    Zhao, X.-N.2    Usdin, K.3
  • 49
  • 50
    • 23944431645 scopus 로고    scopus 로고
    • FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
    • 1:CAS:528:DC%2BD2MXlsFSrtrc%3D 17179750
    • Tassone F, Iwahashi C, Hagerman PJ: FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol 2004, 1:103-105.
    • (2004) RNA Biol , vol.1 , pp. 103-105
    • Tassone, F.1    Iwahashi, C.2    Hagerman, P.J.3
  • 51
    • 56749165180 scopus 로고    scopus 로고
    • CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome
    • 2605773 1:CAS:528:DC%2BD1MXis1Srtw%3D%3D 19014369
    • Brouwer JR, Huizer K, Severijnen LA, Hukema RK, Berman RF, Oostra BA, Willemsen R: CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem 2008, 107:1671-1682.
    • (2008) J Neurochem , vol.107 , 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
  • 52
    • 20444447397 scopus 로고    scopus 로고
    • Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS)
    • 1:CAS:528:DC%2BD2MXlsVCjsrw%3D 15876460
    • Van Dam D, Errijgers V, Kooy RF, Willemsen R, Mientjes E, Oostra BA, De Deyn PP: Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS). Behav Brain Res 2005, 162:233-239.
    • (2005) Behav Brain Res , vol.162 , 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
  • 53
    • 33748373580 scopus 로고    scopus 로고
    • RNA-mediated neuromuscular disorders
    • 1:CAS:528:DC%2BD28XosVeitr0%3D 16776586
    • Ranum LP, Cooper TA: RNA-mediated neuromuscular disorders. Annu Rev Neurosci 2006, 29:259-277.
    • (2006) Annu Rev Neurosci , vol.29 , pp. 259-277
    • Ranum, L.P.1    Cooper, T.A.2
  • 54
    • 84876449659 scopus 로고    scopus 로고
    • The unstable repeats-three evolving faces of neurological disease
    • 3608403 1:CAS:528:DC%2BC3sXktFejtrg%3D 23473314
    • Nelson DL, Orr HT, Warren ST: The unstable repeats-three evolving faces of neurological disease. Neuron 2013, 77:825-843.
    • (2013) Neuron , vol.77 , pp. 825-843
    • Nelson, D.L.1    Orr, H.T.2    Warren, S.T.3
  • 55
    • 2342635196 scopus 로고    scopus 로고
    • The fragile-X premutation: A maturing perspective
    • 1181976 1:CAS:528:DC%2BD2cXjvVeis7w%3D 15052536
    • Hagerman PJ, Hagerman RJ: The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004, 74:805-816.
    • (2004) Am J Hum Genet , vol.74 , pp. 805-816
    • Hagerman, P.J.1    Hagerman, R.J.2
  • 59
    • 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
    • 2215388 1:CAS:528:DC%2BD2sXpslKqsb0%3D 17698010
    • Sofola OA, Jin P, Qin Y, Duan R, Liu H, de Haro M, Nelson DL, Botas J: RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron 2007, 55:565-571.
    • (2007) Neuron , vol.55 , 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
  • 61
    • 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
    • 1994817 1:CAS:528:DC%2BD2sXpslKqsbw%3D 17698009
    • Jin P, Duan R, Qurashi A, Qin Y, Tian D, Rosser TC, Liu H, Feng Y, Warren ST: Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron 2007, 55:556-564.
    • (2007) Neuron , vol.55 , 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
  • 62
    • 80052598182 scopus 로고    scopus 로고
    • Spatial code recognition in neuronal RNA targeting: Role of RNA-hnRNP A2 interactions
    • 3153643 1:CAS:528:DC%2BC3MXhtVCnurrM 21807882
    • Muslimov IA, Patel MV, Rose A, Tiedge H: Spatial code recognition in neuronal RNA targeting: role of RNA-hnRNP A2 interactions. J Cell Biol 2011, 194:441-457.
    • (2011) J Cell Biol , vol.194 , pp. 441-457
    • Muslimov, I.A.1    Patel, M.V.2    Rose, A.3    Tiedge, H.4
  • 63
    • 4043172851 scopus 로고    scopus 로고
    • Destabilization of tetraplex structures of the fragile X repeat sequence (CGG)n is mediated by homolog-conserved domains in three members of the hnRNP family
    • 514371 1:CAS:528:DC%2BD2cXntFansr4%3D 15302914
    • Khateb S, Weisman-Shomer P, Hershco I, Loeb LA, Fry M: Destabilization of tetraplex structures of the fragile X repeat sequence (CGG)n is mediated by homolog-conserved domains in three members of the hnRNP family. Nucleic Acids Res 2004, 32:4145-4154.
    • (2004) Nucleic Acids Res , vol.32 , pp. 4145-4154
    • Khateb, S.1    Weisman-Shomer, P.2    Hershco, I.3    Loeb, L.A.4    Fry, M.5
  • 64
    • 65849117023 scopus 로고    scopus 로고
    • The quadruplex r(CGG)n destabilizing cationic porphyrin TMPyP4 cooperates with hnRNPs to increase the translation efficiency of fragile X premutation mRNA
    • 2677883 1:CAS:528:DC%2BD1MXlsleru7k%3D 19273535
    • Ofer N, Weisman-Shomer P, Shklover J, Fry M: The quadruplex r(CGG)n destabilizing cationic porphyrin TMPyP4 cooperates with hnRNPs to increase the translation efficiency of fragile X premutation mRNA. Nucleic Acids Res 2009, 37:2712-2722.
    • (2009) Nucleic Acids Res , vol.37 , pp. 2712-2722
    • Ofer, N.1    Weisman-Shomer, P.2    Shklover, J.3    Fry, M.4
  • 65
    • 34948834723 scopus 로고    scopus 로고
    • Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation
    • 2083558 1:CAS:528:DC%2BD2sXht1Kmsr%2FF 17936705
    • Kuyumcu-Martinez NM, Wang GS, Cooper TA: Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell 2007, 28:68-78.
    • (2007) Mol Cell , vol.28 , pp. 68-78
    • Kuyumcu-Martinez, N.M.1    Wang, G.S.2    Cooper, T.A.3
  • 66
    • 75249107845 scopus 로고    scopus 로고
    • Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome
    • 2821051 1:CAS:528:DC%2BD1MXhsVWmsrfL 20161676
    • Galloway JN, Nelson DL: Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol 2009, 4:785.
    • (2009) Future Neurol , vol.4 , pp. 785
    • Galloway, J.N.1    Nelson, D.L.2
  • 68
    • 79959845010 scopus 로고    scopus 로고
    • Nuclear accumulation of stress response mRNAs contributes to the neurodegeneration caused by Fragile X premutation rCGG repeats
    • 3107199 1:CAS:528:DC%2BC3MXntlemurY%3D 21655086
    • Qurashi A, Li W, Zhou JY, Peng J, Jin P: Nuclear accumulation of stress response mRNAs contributes to the neurodegeneration caused by Fragile X premutation rCGG repeats. PLoS Genet 2011, 7:e1002102.
    • (2011) PLoS Genet , vol.7
    • Qurashi, A.1    Li, W.2    Zhou, J.Y.3    Peng, J.4    Jin, P.5
  • 70
    • 84863694093 scopus 로고    scopus 로고
    • MicroRNA-277 modulates the neurodegeneration caused by Fragile X premutation rCGG repeats
    • 3343002 1:CAS:528:DC%2BC38Xnt1Oiu70%3D 22570635
    • Tan H, Poidevin M, Li H, Chen D, Jin P: MicroRNA-277 modulates the neurodegeneration caused by Fragile X premutation rCGG repeats. PLoS Genet 2012, 8:e1002681.
    • (2012) PLoS Genet , vol.8
    • Tan, H.1    Poidevin, M.2    Li, H.3    Chen, D.4    Jin, P.5
  • 73
    • 15944402920 scopus 로고    scopus 로고
    • Small regulatory RNAs in mammals
    • 1:CAS:528:DC%2BD2MXjsFeksbY%3D 15809264
    • Mattick JS, Makunin IV: Small regulatory RNAs in mammals. Hum Mol Genet 2005,14(1):R121-R132.
    • (2005) Hum Mol Genet , vol.14 , Issue.1 , pp. R121-R132
    • Mattick, J.S.1    Makunin, I.V.2
  • 75
    • 84867291885 scopus 로고    scopus 로고
    • Long noncoding RNA: Its physiological and pathological roles
    • 22612272
    • Yan B, Wang Z: Long noncoding RNA: its physiological and pathological roles. DNA Cell Biol 2012,31(Suppl 1):S34-S41.
    • (2012) DNA Cell Biol , vol.31 , pp. S34-S41
    • Yan, B.1    Wang, Z.2
  • 76
    • 84871069553 scopus 로고    scopus 로고
    • Epigenetic regulation by long noncoding RNAs
    • 1:CAS:528:DC%2BC38XhvVSktb%2FE 23239728
    • Lee JT: Epigenetic regulation by long noncoding RNAs. Science 2012, 338:1435-1439.
    • (2012) Science , vol.338 , pp. 1435-1439
    • Lee, J.T.1
  • 77
    • 69249217649 scopus 로고    scopus 로고
    • Regulatory roles of natural antisense transcripts
    • 2850559 1:CAS:528:DC%2BD1MXptFGrsbg%3D 19638999
    • Faghihi MA, Wahlestedt C: Regulatory roles of natural antisense transcripts. Nat Rev Mol Cell Biol 2009, 10:637-643.
    • (2009) Nat Rev Mol Cell Biol , vol.10 , pp. 637-643
    • Faghihi, M.A.1    Wahlestedt, C.2
  • 78
    • 84863861287 scopus 로고    scopus 로고
    • St Laurent G 3rd, Wahlestedt C: Regulation of chromatin structure by long noncoding RNAs: Focus on natural antisense transcripts
    • 3768148 1:CAS:528:DC%2BC38XmtFGgsLw%3D 22541732
    • Magistri M, Faghihi MA: St Laurent G 3rd, Wahlestedt C: Regulation of chromatin structure by long noncoding RNAs: focus on natural antisense transcripts. Trends Genet 2012, 28:389-396.
    • (2012) Trends Genet , vol.28 , pp. 389-396
    • Magistri, M.1    Faghihi, M.A.2
  • 79
    • 84863489478 scopus 로고    scopus 로고
    • Involvement of long noncoding RNAs in diseases affecting the central nervous system
    • 3495748 1:CAS:528:DC%2BC3sXpsVOhtw%3D%3D 22699553
    • Pastori C, Wahlestedt C: Involvement of long noncoding RNAs in diseases affecting the central nervous system. RNA Biol 2012, 9:860-870.
    • (2012) RNA Biol , vol.9 , pp. 860-870
    • Pastori, C.1    Wahlestedt, C.2
  • 80
    • 78149272981 scopus 로고    scopus 로고
    • The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome
    • 2972696 1:CAS:528:DC%2BC3cXhtlyktrzM 20843831
    • Kumari D, Usdin K: The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome. Hum Mol Genet 2010, 19:4634-4642.
    • (2010) Hum Mol Genet , vol.19 , pp. 4634-4642
    • Kumari, D.1    Usdin, K.2
  • 82
    • 44949246486 scopus 로고    scopus 로고
    • A novel RNA transcript with antiapoptotic function is silenced in fragile X syndrome
    • 2194623 18213394
    • Khalil AM, Faghihi MA, Modarresi F, Brothers SP, Wahlestedt C: A novel RNA transcript with antiapoptotic function is silenced in fragile X syndrome. PLoS One 2008, 3:e1486.
    • (2008) PLoS One , vol.3
    • Khalil, A.M.1    Faghihi, M.A.2    Modarresi, F.3    Brothers, S.P.4    Wahlestedt, C.5
  • 83
    • 84977962881 scopus 로고    scopus 로고
    • Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome
    • Pastori C, Peschansky VJ, Barbouth D, Mehta A, Silva JP, Wahlestedt C: Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome. Hum Genet 2013.
    • (2013) Hum Genet
    • Pastori, C.1    Peschansky, V.J.2    Barbouth, D.3    Mehta, A.4    Silva, J.P.5    Wahlestedt, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.