Zobrazeno 1 - 10
of 125
pro vyhledávání: '"David J. Lockhart"'
Autor:
David G Warnock, Daniel G Bichet, Myrl Holida, Ozlem Goker-Alpan, Kathy Nicholls, Mark Thomas, Francois Eyskens, Suma Shankar, Mathews Adera, Sheela Sitaraman, Richie Khanna, John J Flanagan, Brandon A Wustman, Jay Barth, Carrolee Barlow, Kenneth J Valenzano, David J Lockhart, Pol Boudes, Franklin K Johnson
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0134341 (2015)
Migalastat HCl (AT1001, 1-Deoxygalactonojirimycin) is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A) deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder. The currently app
Externí odkaz:
https://doaj.org/article/f26e7d47b7944128ad874cc4db71fb8b
Autor:
Richie Khanna, Allan C Powe, Yi Lun, Rebecca Soska, Jessie Feng, Rohini Dhulipala, Michelle Frascella, Anadina Garcia, Lee J Pellegrino, Su Xu, Nastry Brignol, Matthew J Toth, Hung V Do, David J Lockhart, Brandon A Wustman, Kenneth J Valenzano
Publikováno v:
PLoS ONE, Vol 9, Iss 7, p e102092 (2014)
Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in acid α-glucosidase (GAA) activity due to mutations in the GAA gene. Pompe disease is characterized by accumulation of lysosomal glycogen primarily in heart an
Externí odkaz:
https://doaj.org/article/72b07734ee0446d5b4528055bccd9d8a
Autor:
Brandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, Richie Khanna, Rebecca Soska, Maria Fuller, Sheela A Sitaraman, Dominique P Germain, Roberto Giugliani, Derralynn A Hughes, Atul Mehta, Kathy Nicholls, Pol Boudes, David J Lockhart, Kenneth J Valenzano, Elfrida R Benjamin
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e57631 (2013)
Fabry disease (FD) results from mutations in the gene (GLA) that encodes the lysosomal enzyme α-galactosidase A (α-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-Gb3). Migalastat hy
Externí odkaz:
https://doaj.org/article/b1ae5dbd0fb74b4bbf482e8731fdda6c
Autor:
Richie Khanna, John J Flanagan, Jessie Feng, Rebecca Soska, Michelle Frascella, Lee J Pellegrino, Yi Lun, Darlene Guillen, David J Lockhart, Kenneth J Valenzano
Publikováno v:
PLoS ONE, Vol 7, Iss 7, p e40776 (2012)
Pompe disease is an inherited lysosomal storage disease that results from a deficiency in the enzyme acid α-glucosidase (GAA), and is characterized by progressive accumulation of lysosomal glycogen primarily in heart and skeletal muscles. Recombinan
Externí odkaz:
https://doaj.org/article/f375d29a0d8c4198869b09cef05661ab
Autor:
Jay A. Barth, Benjamin Bronfin, David J. Lockhart, William R. Wilcox, Robert J. Desnick, Daniel G. Bichet, Dominique P. Germain, Xiaoyang Wu, John Kirk, Raphael Schiffmann, Hadis Williams, Roberto Giugliani, Julie Yu, Sarah Bond, Elfrida R. Benjamin, Kenneth J. Valenzano, Farhana Pruthi, Carrolee Barlow, Derralynn Hughes, Maria Cecilia Della Valle, Evan Katz, Jeff Castelli
Publikováno v:
Genetics in Medicine
Purpose: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific mutant forms of α-galactosidase A to restore lysosomal activity. Methods:
Autor:
David J. Lockhart, Ana Jovanovic, Toya Ohashi, Elfrida R. Benjamin, Norio Sakai, Raphael Schiffmann, David M. Koeller, Gere Sunder-Plassmann, Dominique P. Germain, Jeffrey P. Castelli, Elizabeth Ludington, Charles Marques Lourenço, Kathleen Nicholls, Mark Thomas, Ozlem Goker-Alpan, Robin H. Lachmann, David Dimmock, Ulla Feldt-Rasmussen, Jay A. Barth, Carrolee Barlow, François Eyskens, Patrick Deegan, Eric Hachulla, Nina Skuban, William R. Wilcox, Daniel G. Bichet, John Kirk, Iacopo Olivotto, Suma P. Shankar, Gerard Vockley, Takashi Hamazaki, Franklin K. Johnson, Derralynn Hughes, Pol Boudes, Christopher Viereck, Ichiei Narita, Khan Nedd, Julie Yu
Publikováno v:
Journal of medical genetics
Journal of medical genetics, vol 54, iss 4
Hughes, D A, Nicholls, K, Shankar, S P, Sunder-Plassmann, G, Koeller, D, Nedd, K, Vockley, G, Hamazaki, T, Lachmann, R, Ohashi, T, Olivotto, I, Sakai, N, Deegan, P, Dimmock, D, Eyskens, F, Germain, D P, Goker-Alpan, O, Hachulla, E, Jovanovic, A, Lourenco, C M, Narita, I, Thomas, M, Wilcox, W R, Bichet, D G, Schiffmann, R, Ludington, E, Viereck, C, Kirk, J, Yu, J, Johnson, F, Boudes, P, Benjamin, E R, Lockhart, D J, Barlow, C, Skuban, N, Castelli, J P, Barth, J & Feldt-Rasmussen, U 2017, ' Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease : 18-month results from the randomised phase III ATTRACT study ', Journal of Medical Genetics, vol. 54, no. 4, pp. 288-296 . https://doi.org/10.1136/jmedgenet-2016-104178
Journal of medical genetics, vol 54, iss 4
Hughes, D A, Nicholls, K, Shankar, S P, Sunder-Plassmann, G, Koeller, D, Nedd, K, Vockley, G, Hamazaki, T, Lachmann, R, Ohashi, T, Olivotto, I, Sakai, N, Deegan, P, Dimmock, D, Eyskens, F, Germain, D P, Goker-Alpan, O, Hachulla, E, Jovanovic, A, Lourenco, C M, Narita, I, Thomas, M, Wilcox, W R, Bichet, D G, Schiffmann, R, Ludington, E, Viereck, C, Kirk, J, Yu, J, Johnson, F, Boudes, P, Benjamin, E R, Lockhart, D J, Barlow, C, Skuban, N, Castelli, J P, Barth, J & Feldt-Rasmussen, U 2017, ' Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease : 18-month results from the randomised phase III ATTRACT study ', Journal of Medical Genetics, vol. 54, no. 4, pp. 288-296 . https://doi.org/10.1136/jmedgenet-2016-104178
Background Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates. Migalastat, an oral pharmacological chaperone being developed as a
Autor:
Kate Chang, Amol Ketkar, Nicola Robertson, Masahito Miyamoto, Kenneth J. Valenzano, Yi Lun, Nastry Brignol, Su Xu, Kazutoshi Mihara, Rebecca Soska, Jessie Feng, Hidehito Yasukawa, Robert Boyd, Michelle Frascella, Carole Shardlow, Rick Hamler, Susie Fowles, Alison Churchill, Richie Khanna, David J. Lockhart, Anadina Garcia, Tohru Hirato, Elfrida R. Benjamin, Adriane Schilling, Sean Sullivan
Publikováno v:
Molecular Therapy
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the gene that encodes α-galactosidase A and is characterized by pathological accumulation of globotriaosylceramide and globotriaosylsphingosine. Earlier, the authors demo
Autor:
Sheela Sitaraman, Todd Levine, Carrolee Barlow, Mark Roberts, Barry J. Byrne, Tahseen Mozaffar, Priya S. Kishnani, Pascal Laforêt, Richie Khanna, Jessie Feng, Mark A. Tarnopolsky, David J. Lockhart, Majed Dasouki, Matthews Adera, Ozlem Goker-Alpan, Franklin K. Johnson, Mazen M. Dimachkie, K. Sivakumar, Pol Boudes, Kenneth J. Valenzano, Erika Finanger, Muhammad Ali Pervaiz, K. Guter, Elfrida R. Benjamin, John J. Flanagan, Richard Lazauskas, Jay A. Barth
Publikováno v:
Molecular Therapy
Kishnani, P; Tarnopolsky, M; Roberts, M; Sivakumar, K; Dasouki, M; Dimachkie, MM; et al.(2017). Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α. Molecular Therapy, 25(5), 1199-1208. doi: 10.1016/j.ymthe.2017.02.017. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/7kd7w6h0
Kishnani, P; Tarnopolsky, M; Roberts, M; Sivakumar, K; Dasouki, M; Dimachkie, MM; et al.(2017). Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α. Molecular Therapy, 25(5), 1199-1208. doi: 10.1016/j.ymthe.2017.02.017. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/7kd7w6h0
Duvoglustat HCl (AT2220, 1-deoxynojirimycin) is an investigational pharmacological chaperone for the treatment of acid α-glucosidase (GAA) deficiency, which leads to the lysosomal storage disorder Pompe disease, which is characterized by progressive
Autor:
David J. Lockhart, Sindalana Hean, Lee Pellegrino, Sheila M. Fleming, Melanie B. Watson, Farzad Mortazavi, Franziska Richter, Caitlin K. Mulligan, Brian Ranes, Chunni Zhu, Richie Khanna, John J. Flanagan, Sean W. Clark, Pedrom C. Sioshansi, Krystal De La Rosa, Vincent Lemesre, Brandon Wustman, Marie-Françoise Chesselet
Publikováno v:
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, vol 11, iss 4
Mutation of the lysosomal hydrolase acid-β-glucosidase (GCase), which leads to reduced GCase activity, is one of the most frequent genetic risk factors for Parkinson's disease (PD) and promotes α-synuclein accumulation in the brain, a hallmark of P
Autor:
Joel Charrow, Dominique P. Germain, Maryam Banikazemi, Kathleen Nicholls, Carrolee Barlow, Majed Dasouki, Raphael Schiffmann, Ana Jovanovic, Khan Nedd, Nicola Longo, Suma P. Shankar, Jay A. Barth, Usama A Sharaf El Din, John Kirk, Christopher Viereck, Jeff Castelli, Derralynn Hughes, Charles Marques Lourenço, Ozlem Goker-Alpan, Roberto Giugliani, Ahmad Tuffaha, Claudio Feliciani, Stephen Waldek, Franklin K. Johnson, Elfrida R. Benjamin, C. Ronald Scott, David J. Lockhart, P Giraldo, Julie Yu, Daniel G. Bichet, Drago Bratkovic, Hernan Amartino, Nina Skuban, Seymour Packman, Elizabeth Ludington, Roser Torra, David N. Finegold, Ulla Feldt-Rasmussen, William R. Wilcox, Fatih Süheyl Ezgü
Publikováno v:
NEW ENGLAND JOURNAL OF MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
BACKGROUND Fabry's disease, an X-linked disorder of lysosomal alpha-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic chaperone, stabilizes specific mutant forms of alpha-galactosidase, in