Dual antibody strategy for high-resolution imaging of murine Purkinje cells and their dendrites across multiple layers

por Botta, Salvatore, Chemiakine, Alexei, Gennarino, Vincenzo A.
Publicado 2022

Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene

por Lee, Winston, de Prisco, Nicola, Gennarino, Vincenzo A.
Publicado 2022

Protocol for recording epileptiform discharges of EEG and behavioral seizures in freely moving mice

por Wang, Qi, de Prisco, Nicola, Tang, Jianrong, Gennarino, Vincenzo A.
Publicado 2022

How to expand the method details in your Cell Press paper with step-by-step STAR Protocols

por Lee, Winston, de Prisco, Nicola, Gennarino, Vincenzo A., Buttery, Shawnna
Publicado 2022

Protocol to assess the effect of disease-driving variants on mouse brain morphology and primary hippocampal neurons

por de Prisco, Nicola, Chemiakine, Alexei, Lee, Winston, Botta, Salvatore, Gennarino, Vincenzo A.
Publicado 2022

Promiscuity of enhancer, coding and non-coding transcription functions in ultraconserved elements

por Licastro, Danilo, Gennarino, Vincenzo A, Petrera, Francesca, Sanges, Remo, Banfi, Sandro, Stupka, Elia
Publicado 2010

Determining the effects of loss of function mutations in human cell lines

por de Prisco, Nicola, Botta, Salvatore, Lee, Winston, Rezazadeh, Sarallah, Chemiakine, Alexei, Gennarino, Vincenzo A.
Publicado 2022

miRNeye: a microRNA expression atlas of the mouse eye

por Karali, Marianthi, Peluso, Ivana, Gennarino, Vincenzo A, Bilio, Marchesa, Verde, Roberta, Lago, Giampiero, Dollé, Pascal, Banfi, Sandro
Publicado 2010

miR760 regulates ATXN1 levels via interaction with its 5′ untranslated region

por Nitschke, Larissa, Tewari, Ambika, Coffin, Stephanie L., Xhako, Eder, Pang, Kaifang, Gennarino, Vincenzo A., Johnson, Jennifer L., Blanco, Francisco A., Liu, Zhandong, Zoghbi, Huda Y.
Publicado 2020

RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins

por 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.
Publicado 2018

Dosage sensitivity to Pumilio1 variants in the mouse brain reflects distinct molecular mechanisms

por Botta, Salvatore, de Prisco, Nicola, Chemiakine, Alexei, Brandt, Vicky, Cabaj, Maximilian, Patel, Purvi, Doron‐Mandel, Ella, Treadway, Colton J, Jovanovic, Marko, Brown, Nicholas G, Soni, Rajesh K, Gennarino, Vincenzo A
Publicado 2023

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

por Gennarino, Vincenzo A, Alcott, Callison E, Chen, Chun-An, Chaudhury, Arindam, Gillentine, Madelyn A, Rosenfeld, Jill A, Parikh, Sumit, Wheless, James W, Roeder, Elizabeth R, Horovitz, Dafne DG, Roney, Erin K, Smith, Janice L, Cheung, Sau W, Li, Wei, Neilson, Joel R, Schaaf, Christian P, Zoghbi, Huda Y
Publicado 2015

Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites

por de Prisco, Nicola, Ford, Caitlin, Elrod, Nathan D., Lee, Winston, Tang, Lauren C., Huang, Kai-Lieh, Lin, Ai, Ji, Ping, Jonnakuti, Venkata S., Boyle, Lia, Cabaj, Maximilian, Botta, Salvatore, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H., Rosenfeld, Jill A., Bi, Weimin, Tveten, Kristian, Prescott, Trine, Gerstner, Thorsten, Schroeder, Audrey, Fong, Chin-To, George-Abraham, Jaya K., Buchanan, Catherine A., Hanson-Khan, Andrea, Bernstein, Jonathan A., Nella, Aikaterini A., Chung, Wendy K., Brandt, Vicky, Jovanovic, Marko, Targoff, Kimara L., Yalamanchili, Hari Krishna, Wagner, Eric J., Gennarino, Vincenzo A.
Publicado 2023

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

por Gehin, Charlotte, Lone, Museer A., Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M., Gerkes, Erica H., Stegmann, Alexander P.A., López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R., Zamuner, Stefano, Abriata, Luciano A., Kunnathully, Vidya, Moeller, Brandon E., Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W., Pfundt, Rolph, Willemsen, Marjolein H., Schieving, Jolanda H., Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R., Beier, Christoph P., Larsen, Martin J., Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S., Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis B.R., Bain, Jennifer M., Bhat, Musadiq A., Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L., Friez, Michael J., Richardson, Ellen B., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Gupta, Yask, Lim, Tze Y., Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E., Jakšić, Ana Marjia, McCabe, Brian D., De Los Rios, Paolo, Hornemann, Thorsten, D’Angelo, Giovanni, Gennarino, Vincenzo A.
Publicado 2023