The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.

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

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

METABOLIC MYOPATHIES II

Autor: Jessie Feng, Yi Lun, Russell Gotschall, Hung V. Do, Rebecca Soska, Michelle Frascella, Anju Nair, Richie Khanna, A. Ponery, Ana Cristina Bicharra Garcia, Su Xu, C. Della Valle, Kenneth J. Valenzano

Publikováno v: Neuromuscular Disorders. 28:S136

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c6f632a7722e0d10fd0bd6754777be63
https://doi.org/10.1016/j.nmd.2018.06.400

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β-glucosidase

Autor: Hadis Nafar, Brigitte Rigat, Allan C. Powe, Jessie Feng, Yi Lun, Elfrida R. Benjamin, Richie Khanna, Adriane Schilling, David J. Lockhart, Lee Pellegrino, Brian Ranes, Raphael Schiffmann, Kenneth J. Valenzano, Brandon Wustman, Don J. Mahuran, David Palling, Rebecca Soska

Publikováno v: FEBS Journal. 277:1618-1638

Gaucher disease is caused by mutations in the gene that encodes the lysosomal enzyme acid beta-glucosidase (GCase). We have shown previously that the small molecule pharmacological chaperone isofagomine (IFG) binds and stabilizes N370S GCase, resulti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::61cc1df58a4007668f182b233a500bec
https://doi.org/10.1111/j.1742-4658.2010.07588.x