Search Results - "De Maio, Antonia"

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    Pumilio1 Haploinsufficiency Leads to SCA1-like Neurodegeneration by Increasing Wild-Type Ataxin1 Levels by Gennarino, Vincenzo A., Singh, Ravi K., White, Joshua J., De Maio, Antonia, Han, Kihoon, Kim, Ji-Yoen, Jafar-Nejad, Paymaan, di Ronza, Alberto, Kang, Hyojin, Sayegh, Layal S., Cooper, Thomas A., Orr, Harry T., Sillitoe, Roy V., Zoghbi, Huda Y.

    Published in Cell (12-03-2015)
    “…Spinocerebellar ataxia type 1 (SCA1) is a paradigmatic neurodegenerative proteinopathy, in which a mutant protein (in this case, ATAXIN1) accumulates in…”
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    Journal Article
  3. 3

    TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau by Rousseaux, Maxime Wc, de Haro, Maria, Lasagna-Reeves, Cristian A, De Maio, Antonia, Park, Jeehye, Jafar-Nejad, Paymaan, Al-Ramahi, Ismael, Sharma, Ajay, See, Lauren, Lu, Nan, Vilanova-Velez, Luis, Klisch, Tiemo J, Westbrook, Thomas F, Troncoso, Juan C, Botas, Juan, Zoghbi, Huda Y

    Published in eLife (25-10-2016)
    “…Several neurodegenerative diseases are driven by the toxic gain-of-function of specific proteins within the brain. Elevated levels of alpha-synuclein (α-Syn)…”
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    Journal Article
  4. 4

    Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models by Tan, Qiumin, Yalamanchili, Hari Krishna, Park, Jeehye, De Maio, Antonia, Lu, Hsiang-Chih, Wan, Ying-Wooi, White, Joshua J, Bondar, Vitaliy V, Sayegh, Layal S, Liu, Xiuyun, Gao, Yan, Sillitoe, Roy V, Orr, Harry T, Liu, Zhandong, Zoghbi, Huda Y

    Published in Human molecular genetics (01-12-2016)
    “…Splicing regulation is an important step of post-transcriptional gene regulation. It is a highly dynamic process orchestrated by RNA-binding proteins (RBPs)…”
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    Journal Article
  5. 5

    RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins by De Maio, Antonia, Yalamanchili, Hari Krishna, Adamski, Carolyn J., Gennarino, Vincenzo A., Liu, Zhandong, Qin, Jun, Jung, Sung Y., Richman, Ronald, Orr, Harry, Zoghbi, Huda Y.

    Published in Cell reports (Cambridge) (16-10-2018)
    “…RNA splicing entails the coordinated interaction of more than 150 proteins in the spliceosome, one of the most complex of the cell’s molecular machines. We…”
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    Journal Article
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    COUP-TFI promotes radial migration and proper morphology of callosal projection neurons by repressing Rnd2 expression by Alfano, Christian, Viola, Luigi, Heng, Julian Ik-Tsen, Pirozzi, Marinella, Clarkson, Michael, Flore, Gemma, De Maio, Antonia, Schedl, Andreas, Guillemot, François, Studer, Michèle

    Published in Development (Cambridge) (01-11-2011)
    “…During corticogenesis, late-born callosal projection neurons (CPNs) acquire their laminar position through glia-guided radial migration and then undergo final…”
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  7. 7

    Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex by Ballinger, Elizabeth C, Schaaf, Christian P, Patel, Akash J, de Maio, Antonia, Tao, Huifang, Talmage, David A, Zoghbi, Huda Y, Role, Lorna W

    Published in eNeuro (01-11-2019)
    “…Rett Syndrome is a neurological disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MeCP2) and characterized by severe intellectual…”
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    Journal Article