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Publications - Down Syndrome

Alpha- and beta-secretase activity as a function of age and beta-amyloid in Down Syndrome and normal brain. Nistor, M., Don, M., Parekh, M., Sarsoza, F., Goodus, M., Lopez, G., Kawas, C., Levernez, J., Doran, E., Lott, I., Hill, M. and Head, E. Neurobiology of Aging 28:1493-1506, 2007. [paper]

BACE2, as a novel APP theta-secretase, is not responsible for the pathogenesis of Alzheimer's disease in Down syndrome. Sun, X., He, G. and Song, W. FASEB Journal, 20:1369-1376, 2006. [paper]

Chromosome 21-derived miRNAs provide an etiological basis for aberrant protein expresion in human down syndrome brains. Kuhn, D., Nuovo, G., Terry, A., Martin, M., Malana, G., Sansom, S, Pleister, A., Beck, W., Gardiner, K., Head, E., Lott, I., Elton, T. and Feldman, D. J. Biol. Chem. 285:1529-1543, 2010. [paper]

Consequences of over-expression of Mnb/Dyrk1A in Down syndrome. Wegiel, J., Dowjat, K., Kaczmarski, W., Hwang, Y., Gong, C., Adeyev, T., Barua, M., Kuchna, I., Nowicki, K., Wegiel, J., Imaki, H., Mehta, P., Dalton, A., Albertini, G., Rabe, A., Liang, Z., Liu, F., Iqbal, K., Grundke-Iqbal, I., Murakami, N, Ramakrishn Gatlinburg Conference 2007. [abstract]

Evidence against the overexpresion of APP in Down syndrome. Argellati, F., Massone, S., d"Abramo, c., Marinari, U., Pronzato, M., Domenicotti, C. and Riccaiarelli, R. Life 58: 103-106, 2006. [paper]

Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain. Mao, R., Zielke, C.L., Zielke, H.R. and Pevsner, J. Genomics 81: 457-467, 2003. [paper]

Human chromosome 21-derived miRNAs are overexpressed in down syndrome brains and hearts. Kuhn, D., Nuovo, G., Martin, M., Malana, G., Pleister, A., Jiang, J., Schmittgen, T., Terry, A., Gardiner, K., Head, E., Feldman, D. and Elton, T. BBRC 370: 473-477, 2008. [paper]

Increased BACE1 maturation contributs to the pathogenesis of Alzheimer's disease in Down syndrome. Sun, X., Tong, X., Qing, H., Chen, C-H., and Song, W. FASEB Journal 20:1361-1368, 2006. [paper]

Intraneuronal beta-amyloid precedes development of amyloid plaques in Down syndrome. Gyure, K.A., Durham, R., Stewart, W.F., Smialek, J.E., Troncoso, J.C. Arch. Pathol. Lab. Med. 125:489-492, 2001. [paper]

Myo-inositol is elevated in Down syndrome postmortem brain. Shetty, H. U., Huang, W. and Schapiro, M. J. Neurochem, 70: Suppl., 1998. [abstract]

Parallel compensatory and pathological events associated wiht Tau pathology in middle aged individuals with Down Syndrome. Head, E., Lott, I., Hof, P., Bouras, C., Su, J., Kim, R., Haier, R and Cotman, C. J. Neuropath. Exp. Neurol. 62: 917-926, 2003. [paper]

Phosopholipid composition and levels are altered in Down syndrome brain. Murphy, E.J., Schapiro, M.B., Rapoport, S.I., and Shetty, H.U. Brain Res. 867:9-18, 2000. [paper]

Presence of soluble amyloid -peptide precedes amyloid plaque formation in Down's syndrome. Teller, J., Russo, C., DeBusk, L., Angelini, G., Zaccheo, D., Dagna-Bricarelli, F., Scartezzini, P., Bertolini, S., Mann, D., Tabaton, M. and Gambetti, P. Nature Medicine 2: 93-95, 1996. [paper]

Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart. Mao, R., Wang, x., Spitznagel, E., Frelin, L., Ting, J., Ding, H., Kim, J., Ruczinski, I., Downey, T. and Pevsner, J. Genome Biology 6:R107, 2005. [paper]

Role of gene expression in the devloping human Down Syndrome brain and heart. Mao, R., Wang, X., Spitznagel, E.L., Frelin, L.P., Kim, J., Downey, T.J. and Pevsner, J. Genome Biology 6:R107, 2005. [paper]

Soluble amyloid beta in Down's syndrome brains. Teller, J., Russo, C., DeBusk, L., Mann, D., Tabaton, M. and Gambetti, P. Society for Neuorscience, San Diego, CA, 1995. [abstract]

The Drosophila homolog of Down's syndrome critical region 1 gene regulate learning: Implications for mental retardation. Chang, K., Shi, Y. and Min, K. PNAS 100: 15794-15799, 2003. [paper]

The cholesterol transporter ABCG1 may contribute to the accelerated onset of Alzheimer's disease in Down syndrome. Tansley, G. Burgess, B., Chan, J. and Wellington, C. CLC and ASHG, 2005. [abstract]

The cholestrol transporter ABCG1 modulates the proteolytic processing of amyloid precursor protein. Tansley, G., Burgess, B., Bryan, M., Su, Y., Chan, J., Naus, K., McIsaac, S., Hirsch-Reinshagen, V., Yang, H., Mattos, R. and Wellington, C. 10th International Conf. on Alzheimer's Disease, 2006. [abstract]

The cholestrol transporter ABCG1 modulates the proteolytic processing of amyloid precursor protein. Tansley, G., Burgess, B., Bryan, M., Su, Y., Hirsch-Reinshagen, V., Pearce, J., Chan, J., Wilkenson, A., Evans, J., Naus, K., McIsaac, S., Bromley, K., Song, W., Yang, H., Wang, N., Mattos, R. and Wellington, C. J. of Lipid Research. 48:1022-1034, 2007. [paper]

The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporally over expressed in cerebrum of individuals with Down syndrome during development. Brodsky, G., Bleskan, J., Cox, M., and Patterson, D. Amer. J. Hum. Gen. 59: (No.4) Supplement, #2118, October 1996. [abstract]

The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporarily over expressed in cerebrum of individuals with Down syndrome. Brodsky, G., Barnes, T., Bleskan, J., Becker, L., Cox, M. and Patterson, D. Hum. Mol. Gen. 12: 2043-2050, 1997. [paper]

Trisomy-driven overexpression of DYRK1A kinase in the brain of subjects with Down Syndrome. Dowjat, W., Adayev, T., Kuchna, I., Nowicki, K., Palminiello, E., Hwang, Y and Wegiel, J. Neuroscience Letters 413:77-81, 2007. [paper]

Upregulation of phosphorylated aB-crystallin in the brain of children and young adults with Down Syndrome. Palminiello, S., Jarzabek, K., Kaur, K., Walus, M., Rabe, A., Albertini, G., Golabek, A. and Kida, E. Brain Research 1268: 162-173, 2009. [paper]