PML Clastosomes Prevent Nuclear Accumulation of Mutant Ataxin-7 and Other Polyglutamine Proteins

Autor: Muriel, Marie-Paule, Ruberg, Merle, Brice, Alexis, Trottier, Yvon, Sittler, Annie

Publikováno v: The Journal of Cell Biology, 2006 Jul 01. 174(1), 65-76.

Externí odkaz: https://www.jstor.org/stable/4134228

Self-Assembly of Polyglutamine-Containing Huntingtin Fragments into Amyloid-Like Fibrils: Implications for Huntington's Disease Pathology

Autor: Scherzinger, Eberhard, Sittler, Annie, Schweiger, Katja, Heiser, Volker, Lurz, Rudi, Hasenbank, Renate, Bates, Gillian P., Lehrach, Hans, Wanker, Erich E.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 1999 Apr . 96(8), 4604-4609.

Externí odkaz: https://www.jstor.org/stable/47613

Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

Autor: Coutelier, Marie, Hammer, Monia B., Stevanin, Giovanni, Monin, Marie-Lorraine, Davoine, Claire-Sophie, Mochel, Fanny, Labauge, Pierre, Ewenczyk, Claire, Ding, Jinhui, Gibbs, J. Raphael, Hannequin, Didier, Melki, Judith, Toutain, Annick, Laugel, Vincent, Forlani, Sylvie, Charles, Perrine, Broussolle, Emmanuel, Thobois, Stéphane, Afenjar, Alexandra, Anheim, Mathieu, Calvas, Patrick, Castelnovo, Giovanni, De Broucker, Thomas, Vidailhet, Marie, Moulignier, Antoine, Ghnassia, Robert T., Tallaksen, Chantal, Mignot, Cyril, Goizet, Cyril, Le Ber, Isabelle, Ollagnon-Roman, Elisabeth, Pouget, Jean, Brice, Alexis, Singleton, Andrew, Durr, Alexandra, Belarabi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Ullmann, Urielle, Jardim, Laura, Guergueltcheva, Velina, Tournev, Ivalo, Soong, Bing-Wen, Linarès, Olga Lucia Pedraza, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Azulay, Jean-Philippe, Banneau, Guillaume, Boesfplug-Tanguy, Odile, Burgo, Andrea, Cazeneuve, Cécile, Darios, Frédéric, Depienne, Christel, Duyckaerts, Charles, Fontaine, Bertrand, Hazan, Jamilé, Koenig, Michel, Marelli, Cecilia, N'Guyen, Karine, Rodriguez, Diana, Sittler, Annie, Verny, Christophe, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Koutsis, Georgios, Lossos, Alexander, Antenora, Antonella, Bassi, Maria Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Lieto, Maria, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Roxburgh, Richard, Erichsen, Anne Kjersti, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S., Axpe, Idoia Rouco, Roumani, Samir, Kremer, Berry, Van Roon-Mom, Willeke, Boukhris, Amir, Mhiri, Chokri, Karabay, Arzu, Nethisinghe, Suran, Okane, Cahir, Oliva, Megan, Reid, Evan, Warner, Thomas, Wood, Nicholas

Publikováno v: JAMA neurology
JAMA neurology, American Medical Association, 2018, 75 (5), pp.591--599. ⟨10.1001/jamaneurol.2017.5121⟩
JAMA neurology, Vol. 75, no.5, p. 591-599 (2018)
JAMA neurology, 2018, 75 (5), pp.591--599. ⟨10.1001/jamaneurol.2017.5121⟩

International audience; Importance: Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04b5e26c4d72114d9c2b9494e4124c6f
http://hdl.handle.net/11577/3294486

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Additional file 1: Fig. S1. of Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins

Autor: Alves, Sandro, Marais, Thibaut, Maria-Grazia Biferi, Furling, Denis, Marinello, Martina, Hachimi, Khalid El, Cartier, Nathalie, Ruberg, Merle, Stevanin, Giovanni, Brice, Alexis, Barkats, Martine, Sittler, Annie

Lentiviral-mediated overexpression of the Green Fluorescent Protein (GFP) in the mouse cerebellum. Fig. S2. Overexpression of truncated MUT ATXN7 in the mouse cerebellum induces the formation of ubiquitinated ATXN7 aggregates Fig. S3. Lentiviral-medi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7eee01e146e28439ca6c0cd1c21b3ed