Gene Transfer Therapy for Neurodevelopmental Disorders

Autor: Sarah E. Sinnett, Can Ozlu, Kimberly Goodspeed, Rachel M. Bailey

Publikováno v: Developmental neuroscience. 43(3-4)

Neurodevelopmental disorders (NDDs) include a broad spectrum of disorders that disrupt normal brain development. Though some NDDs are caused by acquired insults (i.e., toxic or infectious encephalopathy) or may be cryptogenic, many NDDs are caused by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf8260fe8e3d86de984a990554cab13c
https://pubmed.ncbi.nlm.nih.gov/33882495

Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders

Autor: Ahamed Hossain, Quiang Chang, Michela Fagiolini, Shilpa D. Kadam, Annarita Patrizi, Steven J. Gray, Jocelyn LeBlanc, Lee-Way Jin, Huda Y. Zoghbi, Zhaolan Zhou, Michael V. Johnston, Sakkubai Naidu, Xinyu Zhao, Mary E. Blue, Sarah E. Sinnett, John J. Foxe, Sophie Molholm, Izumi Maezawa

Publikováno v: Neuroscience

Disruptions in the gene encoding methyl-CpG binding protein 2 (MECP2) underlie complex neurodevelopmental disorders including Rett Syndrome (RTT), MECP2 duplication disorder, intellectual disabilities, and autism. Significant progress has been made o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31003a729579a8717a7f0ab25a522df3
https://europepmc.org/articles/PMC8025698/

List of contributors

Autor: Nicholas Ah Mew, Wado Akamatsu, Hasan Orhan Akman, Afnan AlHakeem, Koji Aoyama, Rafael Artuch, Michael Beck, C. Frank Bennett, Gerard T. Berry, D. Montgomery Bissell, Brenda Canine, C. Thomas Caskey, Widler Casy, Patrick F. Chinnery, David T. Chuang, Emily K. Cook, Rody P. Cox, Philip L. De Jager, Didem Demirbas, Robert J. Desnick, Salvatore DiMauro, Florian S. Eichler, Bernice Elger, Valentina Emmanuele, Patricia Evans, Brent L. Fogel, Àngels García-Cazorla, Cinzia Gellera, Sailaja Golla, Kimberly Goodspeed, Sidney M. Gospe, Steven J. Gray, Andrea L. Gropman, Yian Gu, Renzo Guerrini, Teresa M. Gunn, Una Hadziahmetovic, Darrah Haffner, R.J. Hagerman, Tamar Harel, Elizabeth Head, Rita Horvath, Yasushi Hosoi, Ying-Chen Claire Hou, Jane Hsiao, Hiroyuki Ishiura, Clifford R. Jack, Vikram Jakkamsetti, William G. Johnson†, Fabrice Jotterand, John P. Kane, Olga Khorkova, Chisato Kinoshita, Sanne E. Klompe, Lisa M. Koehl, Michael C. Kruer, Walter A. Kukull, Roger M. Lane, Joseph H. Lee, M.J. Leigh, Qinglan Ling, James R. Lupski, Paola Luzi, Qian Ma, Gustavo H.B. Maegawa, Mary J. Malloy, Seth S. Margolis, Isaac Marin-Valencia, James A. Mastrianni, Dena Matalon, Reuben Matalon, Kimberlee Michals Matalon Rd, Jennifer M. Mathews, Richard Mayeux, Jennifer McCurdy, Meira R. Meltzer, John H. Menkes†, Justin Miron, Jun Mitsui, Hiroaki Miyajima, Lisa M. Monteggia, Mary Ann Morris, Hugo W. Moser†, Melissa E. Murray, Toshio Nakaki, Nathalie Nilsson, Ichizo Nishino, Sandra M.H. Nordlie, Robert L. Nussbaum, William L. Nyhan, Hideyuki Okano, Sergio Padilla-Lopez, Elena Parrini, Juan M. Pascual, Gregory M. Pastores, Shailendra B. Patel, Marc C. Patterson, Izabella A. Pena, Cynthia Picard, Judes Poirier, Jennifer E. Posey, Gerald V. Raymond, William Renthal, David S. Rosenblatt, Francis Rossignol, Gerald Salen, Konrad Sandhoff, Raphael Schiffmann, Detlev Schindler, Frederick A. Schmitt, Susanne A. Schneider, Eric A. Schon, Edward H. Schuchman, Margretta Reed Seashore, Frances C. Shaffo, Michael Shevell, Sarah E. Sinnett, Myriam Srour, Samuel H. Sternberg, Kazuma Sugie, Kristen L. Szabla, Franco Taroni, Marina Tedeschi Dauar, Shoji Tsuji, Wendy R. Uhlmann, Clara van Karnebeek, Kathryn L. Van Pelt, Prashanthi Vemuri, Charles P. Venditti, Claes Wahlestedt, Bruce Wang, David Watkins, David A. Wenger, Charles A. Williams, Golder N. Wilson, Barry Wolf, R. Max Wynn, Hung-Chun Yu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::57d33606a0dd70f9459d3237b2c69dcb
https://doi.org/10.1016/b978-0-12-813955-4.00079-9

Development of a novel AAV gene therapy cassette with improved safety features and efficacy in a mouse model of Rett syndrome

Autor: Stuart Cobb, Steven J. Gray, Noha Gamal Bahey, Ralph D. Hector, Kamal K.E. Gadalla, Mark E.S. Bailey, Sarah E. Sinnett, Thishnapha Vudhironarit

Publikováno v: Gadalla, K K E, Vudhironarit, T, Hector, R D, Sinnett, S, Bahey, N G, Bailey, M E S, Gray, S J & Cobb, S R 2017, ' Development of a novel AAV gene therapy cassette with improved safety features and efficacy in a mouse model of Rett syndrome ', Molecular Therapy-Methods and Clinical Development, vol. 5, pp. 180-190 . https://doi.org/10.1016/j.omtm.2017.04.007
Molecular Therapy: Methods & Clinical Development, Vol 5, Iss C, Pp 180-190 (2017)
Molecular Therapy. Methods & Clinical Development

Rett syndrome (RTT), caused by loss-of-function mutations in the MECP2 gene, is a neurological disorder characterized by severe impairment of motor and cognitive functions. The aim of this study was to investigate the impact of vector design, dosage,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c91bb44473509457d3ceef8795540ab1
https://hdl.handle.net/20.500.11820/59056b4e-4568-4bbc-b2e6-657b3198bc0c

Improved

Autor: Sarah E, Sinnett, Ralph D, Hector, Kamal K E, Gadalla, Clifford, Heindel, Daphne, Chen, Violeta, Zaric, Mark E S, Bailey, Stuart R, Cobb, Steven J, Gray

Publikováno v: Molecular Therapy. Methods & Clinical Development

Intravenous administration of adeno-associated virus serotype 9 (AAV9)/hMECP2 has been shown to extend the lifespan of Mecp2−/y mice, but this delivery route induces liver toxicity in wild-type (WT) mice. To reduce peripheral transgene expression,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a9728e46367f2089eb1d12a614c60ca5
https://pubmed.ncbi.nlm.nih.gov/28497072