Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.

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

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.

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

Glucosylceramide and Glucosylsphingosine Quantitation by Liquid Chromatography-Tandem Mass Spectrometry to Enable In Vivo Preclinical Studies of Neuronopathic Gaucher Disease

Autor: Leo B. Dungan, Hui H. Chang, Sean W. Clark, Nastry Brignol, Michelle Frascella, Kenneth J. Valenzano, Richie Khanna, Elfrida R. Benjamin, Robert Boyd, Rick Hamler, Sean Morrison

Publikováno v: Analytical Chemistry. 89:8288-8295

Gaucher disease (GD) is caused by mutations in the GBA1 gene that encodes the lysosomal enzyme acid β-glucosidase (GCase). Reduced GCase activity primarily leads to the accumulation of two substrates, glucosylceramide (GlcCer) and glucosylsphingosin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e69e1fa18dc483218406547e0df9d4e
https://doi.org/10.1021/acs.analchem.7b01442

Improved efficacy of a next-generation ERT in murine Pompe disease

Autor: Yi Lun, Anju Nair, Anadina Garcia, Jessie Feng, Kenneth J. Valenzano, Tuske Steven, Rosa Puertollano, Richie Khanna, Michelle Frascella, Su Xu, Russell Gotschall, Jose A. Martina, Maria Cecilia Della Valle, Evelyn Ralston, Adriane Schilling, Hung V. Do, Nina Raben, Abdul S. Ponery, Rebecca Soska

Publikováno v: JCI Insight. 4

Pompe disease is a rare inherited disorder of lysosomal glycogen metabolism due to acid α-glucosidase (GAA) deficiency. Enzyme replacement therapy (ERT) using alglucosidase alfa, a recombinant human GAA (rhGAA), is the only approved treatment for Po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f12ff3199f2c555ef7abb754419f457
https://doi.org/10.1172/jci.insight.125358

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4614ccfa6b5327862ba825d37a016699