Zobrazeno 1 - 10 of 30 pro vyhledávání: '"Simona Capponi"'
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Akademický článek
Co-translational assembly of mammalian nuclear multisubunit complexes
Autor: Ivanka Kamenova, Pooja Mukherjee, Sascha Conic, Florian Mueller, Farrah El-Saafin, Paul Bardot, Jean-Marie Garnier, Doulaye Dembele, Simona Capponi, H. T. Marc Timmers, Stéphane D. Vincent, László Tora
Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Genes encoding protein complex subunits are often dispersed in the genome of eukaryotes, raising the question how these protein complexes assemble. Here, the authors provide evidence that mammalian nuclear transcription complexes are formed co-transl
Externí odkaz: https://doaj.org/article/bbc82790458b46f6b41118387d376ef9
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2
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
Autor: Emma Wakeling, Quan Li, Laurence E. Walsh, Maria J. Guillen Sacoto, Julie Vogt, Jeff L. Waugh, James R. Lupski, Elizabeth E. Palmer, Alan F. Rope, Robert Kleyner, Amalia Mallawaarachchi, Sebastian Lunke, Jennifer E. Posey, Pankaj B. Agrawal, Sebastien Moutton, Laurence Faivre, Zornitza Stark, Prosper Lukusa, Emily Fassi, Gareth Baynam, Gabriela Soares, Antonie D. Kline, Sonja A. de Munnik, Sarah A. Sandaradura, Chunhua Weng, Lucinda Murray, Lisa Ewans, Ganka Douglas, Eyby Leon, Shehla Mohammed, Marcia C. Willing, Elaine Marchi, Nora Alexander, Paul R. Mark, Joris Vermeesch, Lauren Dreyer, Aimé Lumaka, Koenraad Devriendt, Gholson J. Lyon, Helena Ahlfors, Katelyn Payne, Piatek G. Stefan, Jullianne Diaz, Lesley C. Adès, Simona Capponi, Jean-Baptiste Rivière, Michael F. Buckley, Amber Begtrup, H. T. Marc Timmers, Tony Roscioli, Mengge Zhao, Ana R. Gonçalves, Hanyin Cheng, Lisa Worgan, Kai Wang, Jorge Oliveira
Publikováno v: Hum Mutat
We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial st
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b085cf5ac7f21229d6b3096c675267c4
https://doi.org/10.1002/humu.23936
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3
Neuronal-specific microexon splicing of TAF1 mRNA is directly regulated by SRRM4/nSR100
Autor: Frederik M. A. van Schaik, H. Th. Marc Timmers, Ann M. Graybiel, Jill R. Crittenden, Benjamin J. Blencowe, Martin L. Biniossek, Mercedes M Ondik, Julia Mitschke, Thomas Reinheckel, Nadja Stöffler, Manuel Irimia, Oliver Schilling, Simona Capponi, Lisa Lehmann, Marit W. Vermunt, Menno P. Creyghton
Publikováno v: Taylor & Francis
Neuronal microexons represent the most highly conserved class of alternative splicing events and their timed expression shapes neuronal biology, including neuronal commitment and differentiation. The six-nt microexon 34' is included in the neuronal f
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10aa94a4f4c936dd60d139a3b47ebffb
https://doi.org/10.1080/15476286.2019.1667214
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5
Neuronal-specific microexon splicing of
Autor: Simona, Capponi, Nadja, Stöffler, Manuel, Irimia, Frederik M A, Van Schaik, Mercedes M, Ondik, Martin L, Biniossek, Lisa, Lehmann, Julia, Mitschke, Marit W, Vermunt, Menno P, Creyghton, Ann M, Graybiel, Thomas, Reinheckel, Oliver, Schilling, Benjamin J, Blencowe, Jill R, Crittenden, H Th Marc, Timmers
Publikováno v: RNA Biology
Neuronal microexons represent the most highly conserved class of alternative splicing events and their timed expression shapes neuronal biology, including neuronal commitment and differentiation. The six-nt microexon 34ʹ is included in the neuronal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0a0d3f24fa998f5783aa1a45d3c55c69
https://pubmed.ncbi.nlm.nih.gov/31559909
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6
Co-translational assembly of mammalian nuclear multisubunit complexes
Autor: Sascha Conic, Paul Bardot, Simona Capponi, Florian Mueller, Jean-Marie Garnier, Pooja Mukherjee, Doulaye Dembélé, Ivanka Kamenova, Farrah El-Saafin, Laszlo Tora, H. T. Marc Timmers, Stéphane D. Vincent
Publikováno v: Nature Communications
Nature Communications, 2019, 10 (1), ⟨10.1038/s41467-019-09749-y⟩
Nature Communications, Nature Publishing Group, 2019, 10 (1), ⟨10.1038/s41467-019-09749-y⟩
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Cells dedicate significant energy to build proteins often organized in multiprotein assemblies with tightly regulated stoichiometries. As genes encoding subunits assembling in a multisubunit complex are dispersed in the genome of eukaryotes, it is un
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ef7ce86e83a73a7b0b8df132833c32f
https://hal.science/hal-02130219/document
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7
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1
Autor: Emilia Bellone, Simonetta Verdiani, Vincent Timmerman, Monica Bandettini di Poggio, Marco Barberis, Adriano Chiò, Vicky De Winter, Simona Capponi, Paola Mandich, Elias Adriaenssens, Paola Origone, Elena Cichero, Alessandro Geroldi, Paola Fossa, Thomas Geuens
Publikováno v: Human mutation
Human Mutation
Genetic discoveries in amyotrophic lateral sclerosis (ALS) have a significant impact on deciphering molecular mechanisms of motor neuron degeneration but, despite recent advances, the etiology of most sporadic cases remains elusive. Several cellular
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba3937f4dd371a11d9a05f7b9e04996
https://doi.org/10.1002/humu.23062
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9
Co-translation drives the assembly of mammalian nuclear multisubunit complexes
Autor: Farrah El-Saafin, Laszlo Tora, Timmers Hm, Sascha Conic, Simona Capponi, Paul Bardot, Florian Mueller, Jean-Marie Garnier, Mukherjee P, Doulaye Dembélé, Kamenova I, Stéphane D. Vincent
Cells dedicate significant energy to build proteins often organized in multiprotein assemblies with tightly regulated stoichiometries. As genes encoding proteins assembling in the same multisubunit complexes are dispersed in the genome of eukaryotes,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa63f5add68c4af07942c4c8f63b2718
https://doi.org/10.1101/419812
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10
Ultrathin polymer films by single molecule deposition
Autor: Bram Vanroy, Angeline Kasina, Michael Wübbenhorst, Simone Napolitano, Simona Capponi
Publikováno v: Journal of Non-Crystalline Solids. 407:270-276
While physical vapour deposition of glass forming materials below their glass transition temperature, Tg, is an exciting route towards glasses with an extremely high packing density, strong kinetic and thermodynamic stability, vapour deposition of po
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9ae4c6ff240c9bb62c20189f4acc9f45
https://doi.org/10.1016/j.jnoncrysol.2014.08.001
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