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“Gene expression profiles in the cerebellum of transgenic mice over expressing the human FMR1 gene with CGG repeats in the normal range”, vol. 11, pp. 467-483, 2012.
, Allen EG, He W, Yadav-Shah M and Sherman SL (2004). A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum. Genet. 114: 439-447.
http://dx.doi.org/10.1007/s00439-004-1086-x
PMid:14758538
Bakker CE, Kooy RF, D’Hooge R and Tamanini F (2000). Introduction of a FMR1 transgene in the fragile X knockout mouse. Neurosc. Res. Communic. 26: 265-277.
http://dx.doi.org/10.1002/1520-6769(200005/06)26:3<265::AID-NRC13>3.0.CO;2-T
Brouwer JR, Mientjes EJ, Bakker CE, Nieuwenhuizen IM, et al. (2007). Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated fragile X full mutation. Exp. Cell Res. 313: 244-253.
http://dx.doi.org/10.1016/j.yexcr.2006.10.002
PMid:17150213 PMCid:1852528
Brouwer JR, Huizer K, Severijnen LA, Hukema RK, et al. (2008). CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J. Neurochem. 107: 1671-1682.
http://dx.doi.org/10.1111/j.1471-4159.2008.05747.x
PMid:19014369 PMCid:2605773
Buxbaum JN, Ye Z, Reixach N, Friske L, et al. (2008). Transthyretin protects Alzheimer’s mice from the behavioral and biochemical effects of Aβ toxicity. Proc. Natl. Acad. Sci. U. S. A. 105: 2681-2686.
http://dx.doi.org/10.1073/pnas.0712197105
PMid:18272491 PMCid:2268196
Costa A, Gao L, Carrillo F, Caceres-Redondo MT, et al. (2011). Intermediate alleles at the FRAXA and FRAXE loci in Parkinson’s disease. Parkinsonism Relat. Disord. 17: 281-284.
http://dx.doi.org/10.1016/j.parkreldis.2010.12.013
D’Hulst C, Heulens I, Brouwer JR, Willemsen R, et al. (2009). Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS). Brain Res. 1253: 176-183.
http://dx.doi.org/10.1016/j.brainres.2008.11.075
PMid:19070606
Drabek D, Raguz S, De Wit TP, Dingjan GM, et al. (1997). Correction of the X-linked immunodeficiency phenotype by transgenic expression of human Bruton tyrosine kinase under the control of the class II major histocompatibility complex Ea locus control region. Proc. Natl. Acad. Sci. U. S. A. 94: 610-615.
http://dx.doi.org/10.1073/pnas.94.2.610
Gallo JM, Jin P, Thornton CA, Lin H, et al. (2005). The role of RNA and RNA processing in neurodegeneration. J. Neurosci. 25: 10372-10375.
http://dx.doi.org/10.1523/JNEUROSCI.3453-05.2005
PMid:16280575
Ginsberg SD, Galvin JE, Chiu TS, Lee VM, et al. (1998). RNA sequestration to pathological lesions of neurodegenerative diseases. Acta Neuropathol. 96: 487-494.
http://dx.doi.org/10.1007/s004010050923
PMid:9829812
Greco CM, Berman RF, Martin RM, Tassone F, et al. (2006). Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 129: 243-255.
http://dx.doi.org/10.1093/brain/awh683
PMid:16332642
Greco CM, Navarro CS, Hunsaker MR, Maezawa I, et al. (2011). Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome. Mol. Autism 2: 2.
http://dx.doi.org/10.1186/2040-2392-2-2
PMid:21303513 PMCid:3045897
Hagerman PJ and Hagerman RJ (2004a). Fragile X-associated tremor/ataxia syndrome (FXTAS). Ment. Retard. Dev. Disabil. Res. Rev. 10: 25-30.
http://dx.doi.org/10.1002/mrdd.20005
PMid:14994285
Hagerman PJ and Hagerman RJ (2004b). The fragile-X premutation: a maturing perspective. Am. J. Hum. Genet. 74: 805-816.
http://dx.doi.org/10.1086/386296
PMid:15052536
Hagerman PJ and Hagerman RJ (2007). Fragile X-associated tremor/ataxia syndrome - an older face of the fragile X gene. Nat. Clin. Pract. Neurol. 3: 107-112.
http://dx.doi.org/10.1038/ncpneuro0373
PMid:17279084
Hagerman RJ, Leehey M, Heinrichs W, Tassone F, et al. (2001). Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57: 127-130.
http://dx.doi.org/10.1212/WNL.57.1.127
PMid:11445641
Hmadcha A, De Diego Y and Pintado E (1998). Assessment of FMR1 expression by reverse transcriptase-polymerase chain reaction of KH domains. J. Lab. Clin. Med. 131: 170-173.
http://dx.doi.org/10.1016/S0022-2143(98)90160-3
Hunsaker MR, von Leden RE, Ta BT, Goodrich-Hunsaker NJ, et al. (2011). Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in mice. Behav. Brain Res. 222: 117-121.
http://dx.doi.org/10.1016/j.bbr.2011.03.039
PMid:21440572
Irizarry RA, Hobbs B, Collin F, Beazer-Barclay YD, et al. (2003). Exploration, normalization, and summaries of high density oligonucleotide array probe level data. Biostatistics 4: 249-264.
http://dx.doi.org/10.1093/biostatistics/4.2.249
PMid:12925520
Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, et al. (2003). Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am. J. Hum. Genet. 72: 869-878.
http://dx.doi.org/10.1086/374321
PMid:12638084
Jacquemont S, Hagerman RJ, Hagerman PJ and Leehey MA (2007). Fragile-X syndrome and fragile X-associated tremor/ ataxia syndrome: two faces of FMR1. Lancet Neurol. 6: 45-55.
http://dx.doi.org/10.1016/S1474-4422(06)70676-7
Janitzky K, Stork O, Lux A, Yanagawa Y, et al. (2009). Behavioral effects and pattern of brain c-fos mRNA induced by 2,5-dihydro-2,4,5-trimethylthiazoline, a component of fox feces odor in GAD67-GFP knock-in C57BL/6 mice. Behav. Brain Res. 202: 218-224.
http://dx.doi.org/10.1016/j.bbr.2009.03.038
PMid:19463704
Jin P, Zarnescu DC, Zhang F, Pearson CE, et al. (2003). RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 39: 739-747.
http://dx.doi.org/10.1016/S0896-6273(03)00533-6
Kenneson A, Zhang F, Hagedorn CH and 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: 1449-1454.
http://dx.doi.org/10.1093/hmg/10.14.1449
PMid:11448936
Lemmens R, Moore MJ, Al-Chalabi A, Brown RH Jr, et al. (2010). RNA metabolism and the pathogenesis of motor neuron diseases. Trends Neurosci. 33: 249-258.
http://dx.doi.org/10.1016/j.tins.2010.02.003
PMid:20227117
Loesch DZ, Bui QM, Huggins RM, Mitchell RJ, et al. (2007). Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats. J. Med. Genet. 44: 200-204.
http://dx.doi.org/10.1136/jmg.2006.043950
PMid:16905681 PMCid:2598026
Mejias R, Villadiego J, Pintado CO, Vime PJ, et al. (2006). Neuroprotection by transgenic expression of glucose-6- phosphate dehydrogenase in dopaminergic nigrostriatal neurons of mice. J. Neurosci. 26: 4500-4508.
http://dx.doi.org/10.1523/JNEUROSCI.0122-06.2006
PMid:16641229
Oostra BA and Willemsen R (2009). FMR1: a gene with three faces. Biochim. Biophys. Acta 1790: 467-477.
http://dx.doi.org/10.1016/j.bbagen.2009.02.007
PMid:19233246 PMCid:2692361
Paylor R, Yuva-Paylor LA, Nelson DL and Spencer CM (2008). Reversal of sensorimotor gating abnormalities in Fmr1 knockout mice carrying a human Fmr1 transgene. Behav. Neurosci. 122: 1371-1377.
http://dx.doi.org/10.1037/a0013047
PMid:19045956
Porcellini E, Davis EJ, Chiappelli M, Ianni E, et al. (2008). Elevated plasma levels of alpha-1-anti-chymotrypsin in age-related cognitive decline and Alzheimer’s disease: a potential therapeutic target. Curr. Pharm. Des. 14: 2659-2664.
http://dx.doi.org/10.2174/138161208786264151
PMid:18991685
Sanges R, Cordero F and Calogero RA (2007). oneChannelGUI: a graphical interface to Bioconductor tools, designed for life scientists who are not familiar with R language. Bioinformatics 23: 3406-3408.
http://dx.doi.org/10.1093/bioinformatics/btm469
PMid:17875544
Smyth GK (2004). Linear models and empirical Bayes methods for assessing differential expression in microarray experiments. Stat. Appl. Genet. Mol. Biol. 3: Article3.
Tassone F, Hagerman RJ, Taylor AK, Gane LW, et al. (2000a). Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am. J. Hum. Genet. 66: 6-15.
http://dx.doi.org/10.1086/302720
PMid:10631132
Tassone F, Hagerman RJ, Loesch DZ, Lachiewicz A, et al. (2000b). Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am. J. Med. Genet. 94: 232-236.
http://dx.doi.org/10.1002/1096-8628(20000918)94:3<232::AID-AJMG9>3.0.CO;2-H
Tassone F, Beilina A, Carosi C, Albertosi S, et al. (2007). Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 13: 555-562.
http://dx.doi.org/10.1261/rna.280807
PMid:17283214 PMCid:1831862
Van Dam D, Errijgers V, Kooy RF, Willemsen R, et al. (2005). Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS). Behav. Brain Res. 162: 233-239.
http://dx.doi.org/10.1016/j.bbr.2005.03.007
PMid:15876460
Wenzel HJ, Hunsaker MR, Greco CM, Willemsen R, et al. (2010). Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation. Brain Res. 1318: 155-166.
http://dx.doi.org/10.1016/j.brainres.2009.12.077
PMid:20051238 PMCid:3086812
Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, et al. (2003). The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum. Mol. Genet. 12: 949-959.
http://dx.doi.org/10.1093/hmg/ddg114
PMid:12700164