Excessive rest time during active phase is reliably detected in a mouse model of myotonic dystrophy type 1 using home cage monitoring

Autor: Elisabetta Golini, Mara Rigamonti, Marcello Raspa, Ferdinando Scavizzi, Germana Falcone, Genevieve Gourdon, Silvia Mandillo

Publikováno v: Frontiers in Behavioral Neuroscience, Vol 17 (2023)

Myotonic dystrophy type 1 (DM1) is a dominantly inherited neuromuscular disease caused by the abnormal expansion of CTG-repeats in the 3′-untranslated region of the Dystrophia Myotonica Protein Kinase (DMPK) gene, characterized by multisystemic sym

Externí odkaz: https://doaj.org/article/cb5aa180ebb8459ebfc0f7d283fb6e4e

Time-controlled and muscle-specific CRISPR/Cas9-mediated deletion of CTG-repeat expansion in the DMPK gene

Autor: Beatrice Cardinali, Claudia Provenzano, Mariapaola Izzo, Christine Voellenkle, Jonathan Battistini, Georgios Strimpakos, Elisabetta Golini, Silvia Mandillo, Ferdinando Scavizzi, Marcello Raspa, Alessandra Perfetti, Denisa Baci, Dejan Lazarevic, Jose Manuel Garcia-Manteiga, Geneviève Gourdon, Fabio Martelli, Germana Falcone

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 27, Iss , Pp 184-199 (2022)

CRISPR/Cas9-mediated therapeutic gene editing is a promising technology for durable treatment of incurable monogenic diseases such as myotonic dystrophies. Gene-editing approaches have been recently applied to in vitro and in vivo models of myotonic

Externí odkaz: https://doaj.org/article/5d433c05d99644d685e8e224594c7bdb

Contributors

Autor: Aida Abu-Baker, Tetsuo Ashizawa, Linda L. Bachinski, Albino Bacolla, Gillian P. Bates, John S. Belt, Dya Bezprozvanny, Sanjay Bidichandani, John J. Bissler, Alexis Brice, Kerri M. Carlson, CheunJu Chen, Thomas A. Cooper, Natividad Cortez-Apreza, John W. Day, Irene De Biase, Ruhee Dere, Didier Devys, Katherine A. Dick, Vincent Dion, Lisa M. Ellerby, Henry F. Epstein, Kenneth H. Fischbeck, Laurent Foiry, Rune R. Frants, Gwenn A. Garden, M´rio Gomes-Pereira, Geneviéve Gourdon, Paul J. Hagerman, Randi J Hagerman, Peter S. Harper, Vera I. Hashem, Michael R. Hayden, Micheal L. Hebert, Dominique Helmlinger, Emma Hockly, Susan E. Holmes, H.S. Hwang, Yoshio Ikeda, Kinya Ishikawa, George R. Jackson, Mariana Kekis, Beata Kosmider, Irina V. Kovtun, Ralf Krahe, Wlodzimierz J. Krzyzosiak, Albert R. La Spada, Jacquelynn E. Larson, Rachel Lau, Michael Leffak, Michelle R. Leonard, Yunfu Lin, Yuan Liu, Julien L. Marcadier, Jamie M. Margolis, Russell L. Margolis, Cynthia T. McMurray, Sergei M. Mirkin, Hidehiro Mizusawa, Darren G. Monckton, S. Erin Montgomery, Marek Napierala, David L. Nelson, Elizabeth O'Hearn, Ben A. Oostra, Harry T. Orr, George W. Padberg, Massimo Pandolfo, Gagan B. Panigrahi, Sharan Paul, Henry Paulson, Christopher E. Pearson, Olga Pletnikova, Vladimir N. Potaman, Mahmoud A. Pouladi, Rajendra Prasad, Héléne Puccio, Stefan M. Pulst, Malgorzata J. Pytlos, Laura P.W. Ranum, Lynn A. Raymond, Sita Reddy, Robert I. Richards, Christopher A. Ross, Guy Rouleau, Dobrila D. Rudnicki, Tzu-Kang Sang, Peggy E. Shelbourne, Michael J. Siciliano, Richard R. Sinden, Ram Singh, Krzysztof Sobczak, LesHe S. Son, Giovanni Stevanin, S. Strack, Maurice S. Swanson, J. Paul Taylor, Charles A. Thornton, Andrea Todd, Juan Troncoso, Ray Truant, Bjarne Udd, Karen Usdin, Silvere M. van der Maarel, Rene E.M.A. van Herpen, Caroline Vosch, Derick G. Wansink, Robert D. Wells, Ronald Wetzel, Bé Wieringa, Robert B. Wilson, Samuel H. Wilson, John H. Wilson, Marzena Wojciechowska

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bd4cd0ded2f3ce9679528ecf02b5ccd4
https://doi.org/10.1016/b978-012369462-1/50000-4

Integrative Cell Type-Specific Multi-Omics Approaches Reveal Impaired Programs of Glial Cell Differentiation in Mouse Culture Models of DM1

Autor: Anchel González-Barriga, Louison Lallemant, Diana M. Dincã, Sandra O. Braz, Hélène Polvèche, Paul Magneron, Cédric Pionneau, Aline Huguet-Lachon, Jean-Baptiste Claude, Cerina Chhuon, Ida Chiara Guerrera, Cyril F. Bourgeois, Didier Auboeuf, Geneviève Gourdon, Mário Gomes-Pereira

Publikováno v: Frontiers in Cellular Neuroscience, Vol 15 (2021)

Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a non-coding CTG repeat expansion in the DMPK gene. This mutation generates a toxic CUG RNA that interferes with the RNA processing of target genes in multiple tissues. Despite deb

Externí odkaz: https://doaj.org/article/cc14c6fdaf5242e59ed0347ca14de222

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice

Autor: Dominic Jauvin, Jessina Chrétien, Sanjay K. Pandey, Laurie Martineau, Lucille Revillod, Guillaume Bassez, Aline Lachon, A. Robert McLeod, Geneviève Gourdon, Thurman M. Wheeler, Charles A. Thornton, C. Frank Bennett, Jack Puymirat

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 7, Iss C, Pp 465-474 (2017)

Myotonic dystrophy type 1 (DM1), a dominant hereditary muscular dystrophy, is caused by an abnormal expansion of a (CTG)n trinucleotide repeat in the 3′ UTR of the human dystrophia myotonica protein kinase (DMPK) gene. As a consequence, mutant tran

Externí odkaz: https://doaj.org/article/b019e0b86069472cbd72368b12dffd00