메뉴 건너뛰기




Volumn 2, Issue 1, 2013, Pages

Intranuclear inclusions in a fragile X mosaic male

Author keywords

FXS; FXTAS; Intranuclear inclusions; Premutation

Indexed keywords

ARIPIPRAZOLE; BUSPIRONE; FLUOXETINE; FRAGILE X MENTAL RETARDATION PROTEIN; MESSENGER RNA;

EID: 84883602770     PISSN: None     EISSN: 20479158     Source Type: Journal    
DOI: 10.1186/2047-9158-2-10     Document Type: Article
Times cited : (33)

References (37)
  • 1
    • 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
    • Sobesky WE, Taylor AK, Pennington BF, Bennetto L, Porter D, Riddle J, Hagerman RJ. Molecular/clinical correlations in females with fragile X. Am J Med Genet 1996, 64:340-345. 10.1002/(SICI)1096-8628(19960809)64:2<340::AID-AJMG21>3.0.CO;2-E, 8844077.
    • (1996) Am J Med Genet , vol.64 , 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
  • 3
    • 79956269144 scopus 로고    scopus 로고
    • Fragile x syndrome
    • 10.2174/138920211795677886, 3137006, 22043169
    • McLennan Y, Polussa J, Tassone F, Hagerman R. Fragile x syndrome. Curr Genomics 2011, 12:216-224. 10.2174/138920211795677886, 3137006, 22043169.
    • (2011) Curr Genomics , vol.12 , pp. 216-224
    • McLennan, Y.1    Polussa, J.2    Tassone, F.3    Hagerman, R.4
  • 5
    • 0035675794 scopus 로고    scopus 로고
    • The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders
    • 10.1097/00004703-200112000-00008, 11773805
    • Rogers SJ, Wehner DE, Hagerman R. The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. J Dev Behav Pediatr 2001, 22:409-417. 10.1097/00004703-200112000-00008, 11773805.
    • (2001) J Dev Behav Pediatr , vol.22 , pp. 409-417
    • Rogers, S.J.1    Wehner, D.E.2    Hagerman, R.3
  • 6
    • 1642361826 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome (FXTAS)
    • 10.1002/mrdd.20005, 14994285
    • Hagerman PJ, Hagerman RJ. Fragile X-associated tremor/ataxia syndrome (FXTAS). Ment Retard Dev Disabil Res Rev 2004, 10:25-30. 10.1002/mrdd.20005, 14994285.
    • (2004) Ment Retard Dev Disabil Res Rev , vol.10 , pp. 25-30
    • Hagerman, P.J.1    Hagerman, R.J.2
  • 9
    • 0036345801 scopus 로고    scopus 로고
    • Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
    • 10.1093/brain/awf184, 12135967
    • Greco CM, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002, 125:1760-1771. 10.1093/brain/awf184, 12135967.
    • (2002) Brain , vol.125 , 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
  • 10
    • 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
    • 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. 10.1016/j.juro.2006.11.097, 17382748.
    • (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
  • 11
    • 80054683411 scopus 로고    scopus 로고
    • Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice
    • 10.1007/s00401-011-0860-9, 3222079, 21785977
    • Hunsaker MR, Greco CM, Spath MA, Smits AP, Navarro CS, Tassone F, Kros JM, Severijnen LA, Berry-Kravis EM, Berman RF. Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol 2011, 122:467-479. 10.1007/s00401-011-0860-9, 3222079, 21785977.
    • (2011) Acta Neuropathol , vol.122 , pp. 467-479
    • Hunsaker, M.R.1    Greco, C.M.2    Spath, M.A.3    Smits, A.P.4    Navarro, C.S.5    Tassone, F.6    Kros, J.M.7    Severijnen, L.A.8    Berry-Kravis, E.M.9    Berman, R.F.10
  • 12
    • 74249092236 scopus 로고    scopus 로고
    • Mouse models of fragile X-associated tremor ataxia
    • 2787904, 19574928
    • Berman RF, Willemsen R. Mouse models of fragile X-associated tremor ataxia. J Investig Med 2009, 57:837-841. 2787904, 19574928.
    • (2009) J Investig Med , vol.57 , pp. 837-841
    • Berman, R.F.1    Willemsen, R.2
  • 13
    • 23944431645 scopus 로고    scopus 로고
    • FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
    • 10.4161/rna.1.2.1035, 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. 10.4161/rna.1.2.1035, 17179750.
    • (2004) RNA Biol , vol.1 , pp. 103-105
    • Tassone, F.1    Iwahashi, C.2    Hagerman, P.J.3
  • 15
    • 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, 1994817, 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. 10.1016/j.neuron.2007.07.020, 1994817, 17698009.
    • (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
  • 16
    • 77950529507 scopus 로고    scopus 로고
    • Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients
    • 10.1038/emboj.2010.21, 2857464, 20186122
    • Sellier C, Rau F, Liu Y, Tassone F, Hukema RK, Gattoni R, Schneider A, Richard S, Willemsen R, Elliott DJ. Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J 2010, 29:1248-1261. 10.1038/emboj.2010.21, 2857464, 20186122.
    • (2010) EMBO J , vol.29 , pp. 1248-1261
    • Sellier, C.1    Rau, F.2    Liu, Y.3    Tassone, F.4    Hukema, R.K.5    Gattoni, R.6    Schneider, A.7    Richard, S.8    Willemsen, R.9    Elliott, D.J.10
  • 18
    • 0034016083 scopus 로고    scopus 로고
    • Clinical involvement and protein expression in individuals with the FMR1 premutation
    • 10.1002/(SICI)1096-8628(20000313)91:2<144::AID-AJMG14>3.0.CO;2-V, 10748416
    • Tassone F, Hagerman RJ, Taylor AK, Mills JB, Harris SW, Gane LW, Hagerman PJ. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet 2000, 91:144-152. 10.1002/(SICI)1096-8628(20000313)91:2<144::AID-AJMG14>3.0.CO;2-V, 10748416.
    • (2000) Am J Med Genet , vol.91 , 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
  • 19
    • 0035394437 scopus 로고    scopus 로고
    • Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
    • 10.1093/hmg/10.14.1449, 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. 10.1093/hmg/10.14.1449, 11448936.
    • (2001) Hum Mol Genet , vol.10 , pp. 1449-1454
    • Kenneson, A.1    Zhang, F.2    Hagedorn, C.H.3    Warren, S.T.4
  • 20
    • 0036918690 scopus 로고    scopus 로고
    • Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations
    • 1370354, 12515381
    • Primerano B, Tassone F, Hagerman RJ, Hagerman P, Amaldi F, Bagni C. Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA 2002, 8:1482-1488. 1370354, 12515381.
    • (2002) RNA , vol.8 , pp. 1482-1488
    • Primerano, B.1    Tassone, F.2    Hagerman, R.J.3    Hagerman, P.4    Amaldi, F.5    Bagni, C.6
  • 21
    • 76149090495 scopus 로고    scopus 로고
    • Examination of FMR1 transcript and protein levels among 74 premutation carriers
    • 10.1038/jhg.2009.121, 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. 10.1038/jhg.2009.121, 19927162.
    • (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
  • 23
    • 77954984471 scopus 로고    scopus 로고
    • Parkinsonism and cognitive decline in a fragile X mosaic male
    • 10.1002/mds.23150, 20568092
    • Hall D, Pickler L, Riley K, Tassone F, Hagerman R. Parkinsonism and cognitive decline in a fragile X mosaic male. Mov Disord 2010, 25:1523-1524. 10.1002/mds.23150, 20568092.
    • (2010) Mov Disord , vol.25 , pp. 1523-1524
    • Hall, D.1    Pickler, L.2    Riley, K.3    Tassone, F.4    Hagerman, R.5
  • 24
    • 84879800638 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers
    • Liu Y, Winarni T, Zhang L, Tassone F, Hagerman R. Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers. Clin Genet 2012, :1-4.
    • (2012) Clin Genet , pp. 1-4
    • Liu, Y.1    Winarni, T.2    Zhang, L.3    Tassone, F.4    Hagerman, R.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
    • 10.1111/j.1399-0004.2011.01675.x, 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. 10.1111/j.1399-0004.2011.01675.x, 21476992.
    • (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
  • 26
    • 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, 3109086, 21572337
    • Hunsaker MR, Greco CM, Tassone F, Berman RF, Willemsen R, Hagerman RJ, Hagerman PJ. 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 2011, 70:462-469. 10.1097/NEN.0b013e31821d3194, 3109086, 21572337.
    • (2011) J Neuropathol Exp Neurol , vol.70 , 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
  • 27
    • 2342635196 scopus 로고    scopus 로고
    • The fragile-X premutation: a maturing perspective
    • 10.1086/386296, 1181976, 15052536
    • Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004, 74:805-816. 10.1086/386296, 1181976, 15052536.
    • (2004) Am J Hum Genet , vol.74 , pp. 805-816
    • Hagerman, P.J.1    Hagerman, R.J.2
  • 28
    • 38749141432 scopus 로고    scopus 로고
    • A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations
    • 10.2353/jmoldx.2008.070073, 2175542, 18165273
    • Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ. A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn 2008, 10:43-49. 10.2353/jmoldx.2008.070073, 2175542, 18165273.
    • (2008) J Mol Diagn , vol.10 , pp. 43-49
    • Tassone, F.1    Pan, R.2    Amiri, K.3    Taylor, A.K.4    Hagerman, P.J.5
  • 30
    • 0033940157 scopus 로고    scopus 로고
    • Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome
    • 10.1086/302720, 1288349, 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. 10.1086/302720, 1288349, 10631132.
    • (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
  • 31
    • 72249123025 scopus 로고    scopus 로고
    • Progressive spatial processing deficits in a mouse model of the fragile X premutation
    • 3410547, 20001115
    • Hunsaker MR, Wenzel HJ, Willemsen R, Berman RF. Progressive spatial processing deficits in a mouse model of the fragile X premutation. Behav Neurosci 2009, 123:1315-1324. 3410547, 20001115.
    • (2009) Behav Neurosci , vol.123 , pp. 1315-1324
    • Hunsaker, M.R.1    Wenzel, H.J.2    Willemsen, R.3    Berman, R.F.4
  • 32
    • 84865686138 scopus 로고    scopus 로고
    • Distribution and frequency of intranuclear inclusions in female CGG KI mice modeling the fragile X premutation
    • Schluter EW, Hunsaker MR, Greco CM, Willemsen R, Berman RF. Distribution and frequency of intranuclear inclusions in female CGG KI mice modeling the fragile X premutation. Brain Res 2012, 1472:124-137.
    • (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
  • 33
    • 76449105593 scopus 로고    scopus 로고
    • Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation
    • 3086812, 20051238
    • Wenzel HJ, Hunsaker MR, Greco CM, Willemsen R, Berman RF. Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation. Brain Res 2010, 1318:155-166. 3086812, 20051238.
    • (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
  • 36
    • 85113601514 scopus 로고    scopus 로고
    • Current gaps in understanding the molecular basis of FXTAS
    • Hagerman PJ. Current gaps in understanding the molecular basis of FXTAS. Tremor Other Hyperkinet Mov (N Y) 2012, 2:1-7.
    • (2012) Tremor Other Hyperkinet Mov (N Y) , vol.2 , pp. 1-7
    • Hagerman, P.J.1
  • 37
    • 80455158035 scopus 로고    scopus 로고
    • The fragile X-associated tremor ataxia syndrome
    • 10.1007/978-3-642-21649-7_18, 22009361
    • Tassone F, Hagerman R. The fragile X-associated tremor ataxia syndrome. Results Probl Cell Differ 2012, 54:337-357. 10.1007/978-3-642-21649-7_18, 22009361.
    • (2012) Results Probl Cell Differ , vol.54 , pp. 337-357
    • Tassone, F.1    Hagerman, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.