Zobrazeno 1 - 10
of 270
pro vyhledávání: '"Reuben Matalon"'
Autor:
Jianfei Chao, Lizhao Feng, Peng Ye, Xianwei Chen, Qi Cui, Guihua Sun, Tao Zhou, E Tian, Wendong Li, Weidong Hu, Arthur D. Riggs, Reuben Matalon, Yanhong Shi
Publikováno v:
iScience, Vol 25, Iss 6, Pp 104391- (2022)
Summary: Canavan disease (CD) is a devastating neurological disease that lacks effective therapy. Because CD is caused by mutations of the aspartoacylase (ASPA) gene, we introduced the wild-type (WT) ASPA gene into patient iPSCs through lentiviral tr
Externí odkaz:
https://doaj.org/article/ec108dc0d5d644b9b0f6d2a356457de6
Autor:
Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C. S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell-Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth R. Roeder, Kimberly M. Nugent, Patricia I. Bader, Gary Bellus, Michael Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert Wildin, Anita E. Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice L. Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Abstract Background Exon-targeted microarrays can detect small (
Externí odkaz:
https://doaj.org/article/e6f31aabb43544b3bfd37c91bba99006
Autor:
Natalia S. Mattan, Cristina A. Ghiani, Marcia Lloyd, Reuben Matalon, Dean Bok, Patrizia Casaccia, Jean de Vellis
Publikováno v:
Neurobiology of Disease, Vol 40, Iss 2, Pp 432-443 (2010)
Canavan disease (CD) is a neurodegenerative disease, caused by a deficiency in the enzyme aspartoacylase (ASPA). This enzyme has been localized to oligodendrocytes; however, it is still undefined how ASPA deficiency affects oligodendrocyte developmen
Externí odkaz:
https://doaj.org/article/3c27be2726d84e8a9b6729ee9ed721ec
Publikováno v:
Neurobiology of Disease, Vol 18, Iss 2, Pp 385-389 (2005)
Canavan disease (CD) is a neurodegenerative disorder characterized by the spongy degeneration of the white matter of the brain. Aspartoacylase (ASPA) gene mutation resulting enzyme deficiency is the basic cause of CD. Whether the ASPA defect in CD af
Externí odkaz:
https://doaj.org/article/f66377650f354bff9fa79f4478ffced7
Autor:
Johanna Nokso-Koivisto, Tasnee Chonmaitree, Kristofer Jennings, Reuben Matalon, Stan Block, Janak A Patel
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e93930 (2014)
Acute otitis media (OM) is a common disease which often develops through complex interactions between the host, the pathogen and environmental factors. We studied single nucleotide polymorphisms (SNPs) of genes involved in innate and adaptive immunit
Externí odkaz:
https://doaj.org/article/07167338c43a470ba8b8a9afbe4abe59
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
https://doi.org/10.1016/b978-0-12-813955-4.00079-9
Autor:
Jianfei Chao, Guihua Sun, Reuben Matalon, Edward David Meza, David Hsu, Joseph D. Gold, E Tian, Li Li, Jeremy Klein, Lizhao Feng, Yanhong Shi, Lucy Ghoda, Mi Zhang, Yue Qin, Yonglun Luo, Xianwei Chen, Wendong Li, Tao Zhou, Peng Ye, Weidong Hu, Gerardo Felix, Steven A. Goldman, Wei Dang, Qi Cui
Publikováno v:
Feng, L, Chao, J, Tian, E, Li, L, Ye, P, Zhang, M, Chen, X, Cui, Q, Sun, G, Zhou, T, Felix, G, Qin, Y, Li, W, Meza, E D, Klein, J, Ghoda, L, Hu, W, Luo, Y, Dang, W, Hsu, D, Gold, J, Goldman, S A, Matalon, R & Shi, Y 2020, ' Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs ', Advanced Science, vol. 7, no. 23, 2002155 . https://doi.org/10.1002/advs.202002155
Advanced Science
Advanced Science
Canavan disease (CD) is a fatal leukodystrophy caused by mutation of the aspartoacylase (ASPA) gene, which leads to deficiency in ASPA activity, accumulation of the substrate N‐acetyl‐L‐aspartate (NAA), demyelination, and spongy degeneration of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fb829c0a831a1c36593358fc5523866
https://curis.ku.dk/portal/da/publications/cellbased-therapy-for-canavan-disease-using-human-ipscderived-npcs-and-opcs(cb32e146-164e-470e-a92f-34769f863b7f).html
https://curis.ku.dk/portal/da/publications/cellbased-therapy-for-canavan-disease-using-human-ipscderived-npcs-and-opcs(cb32e146-164e-470e-a92f-34769f863b7f).html
Publikováno v:
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease ISBN: 9780128139554
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ff4a087605d8eff9ac2eb801b885257
https://doi.org/10.1016/b978-0-12-813955-4.00036-2
https://doi.org/10.1016/b978-0-12-813955-4.00036-2