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2012
J. J. Fernández, Martínez, R., Andújar, E., Pérez-Alegre, M., Costa, A., Bonilla-Henao, V., Sobrino, F., Pintado, C. Ó., and Pintado, E., 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