Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Vincenzo A. Gennarino"'
Autor:
Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesi
Externí odkaz:
https://doaj.org/article/47a113198d5649e88315ddec99f2067f
Publikováno v:
STAR Protocols, Vol 3, Iss 3, Pp 101550- (2022)
Publishing a primary research article is typically the result of a collaborative effort between a variety of researchers across differing career stages. STAR Protocols can complement a research article and empower authors to share the expertise they
Externí odkaz:
https://doaj.org/article/3baa553cbfbb4cd88c6c7d88da5eb02e
Publikováno v:
STAR Protocols, Vol 3, Iss 2, Pp 101245- (2022)
Summary: Recurrent seizures are a common feature in many neurologic disorders. Seizure examination may help with diagnosis, preclinical study, and development of treatment strategies. Here we detail protocols to prepare and implant electrodes, as wel
Externí odkaz:
https://doaj.org/article/8d77471b4ca744df9cdb1b78160c3382
Autor:
Nicola de Prisco, Salvatore Botta, Winston Lee, Sarallah Rezazadeh, Alexei Chemiakine, Vincenzo A. Gennarino
Publikováno v:
STAR Protocols, Vol 3, Iss 2, Pp 101232- (2022)
Summary: Quantifying differences in the amount of protein and mRNA caused by missense mutations in a gene of interest can be challenging, especially when using patient-derived primary cells, which are intrinsically variable. In this protocol, we desc
Externí odkaz:
https://doaj.org/article/35632fa920a548d4a0e2d9aa0ff46b77
Publikováno v:
STAR Protocols, Vol 3, Iss 2, Pp 101244- (2022)
Summary: Genetic variants that affect neurological function will often produce changes visible at the level of gross morphology, either of the whole brain or of specific neuronal types. Here we describe how to perfuse and dissect the brain in prepara
Externí odkaz:
https://doaj.org/article/24e12321a2ea454cbcfa84a7b9ef5d6a
Publikováno v:
STAR Protocols, Vol 3, Iss 2, Pp 101427- (2022)
Summary: Despite being among the largest neurons in the mammalian brain, Purkinje cells are difficult to visualize and trace via immunofluorescence because their dendritic arbors extend through several cerebellar layers. This protocol describes a two
Externí odkaz:
https://doaj.org/article/b1eda11c47ba4cc99884cd9424ff8fff
Publikováno v:
STAR Protocols, Vol 3, Iss 1, Pp 101150- (2022)
Summary: Identifying a disease gene and determining its causality in patients can be challenging. Here, we present an approach to predicting the pathogenicity of deletions and missense variants for an autosomal dominant gene. We provide online resour
Externí odkaz:
https://doaj.org/article/c4088e6091a44ffdb1a45c3d0e3e68c0
RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins
Autor:
Antonia De Maio, Hari Krishna Yalamanchili, Carolyn J. Adamski, Vincenzo A. Gennarino, Zhandong Liu, Jun Qin, Sung Y. Jung, Ronald Richman, Harry Orr, Huda Y. Zoghbi
Publikováno v:
Cell Reports, Vol 25, Iss 3, Pp 726-736.e7 (2018)
Summary: 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 previously discovered that the RNA-binding motif protein 17 (RBM17), a component of
Externí odkaz:
https://doaj.org/article/1ff5985b0f4b4531bf5ebfa9496acc16
Autor:
Salvatore Botta, Nicola de Prisco, Alexei Chemiakine, Vicky Brandt, Maximilian Cabaj, Purvi Patel, Ella Doron‐Mandel, Colton J Treadway, Marko Jovanovic, Nicholas G Brown, Rajesh K Soni, Vincenzo A Gennarino
Publikováno v:
The EMBO Journal.
Autor:
Nicola de Prisco, Caitlin Ford, Nathan D. Elrod, Winston Lee, Lauren C. Tang, Kai-Lieh Huang, Ai Lin, Ping Ji, Venkata S. Jonnakuti, Lia Boyle, Maximilian Cabaj, Salvatore Botta, Katrin Õunap, Karit Reinson, Monica H. Wojcik, Jill A. Rosenfeld, Weimin Bi, Kristian Tveten, Trine Prescott, Thorsten Gerstner, Audrey Schroeder, Chin-To Fong, Jaya K. George-Abraham, Catherine A. Buchanan, Andrea Hanson-Khan, Jonathan A. Bernstein, Aikaterini A. Nella, Wendy K. Chung, Vicky Brandt, Marko Jovanovic, Kimara L. Targoff, Hari Krishna Yalamanchili, Eric J. Wagner, Vincenzo A. Gennarino
Publikováno v:
Science Advances. 9
Alternative polyadenylation (APA) creates distinct transcripts from the same gene by cleaving the pre-mRNA at poly(A) sites that can lie within the 3′ untranslated region (3′UTR), introns, or exons. Most studies focus on APA within the 3′UTR; h