Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Brian Ranes"'
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9efd5833a91243954673e6041ea0a90d
https://doi.org/10.1007/s13311-014-0294-x
https://doi.org/10.1007/s13311-014-0294-x
Autor:
Yi Lun, John J. Flanagan, Nastry Brignol, Michelle Frascella, David J. Lockhart, Darlene Guillen, Adriane Schilling, Jessie Feng, Kenneth J. Valenzano, Brandy L. Young, Richie Khanna, Elfrida R. Benjamin, Lee Pellegrino, Brian Ranes, Leo B. Dungan, Rebecca Soska
Publikováno v:
Molecular Therapy
Fabry disease is an X-linked lysosomal storage disorder (LSD) caused by mutations in the gene (GLA) that encodes the lysosomal hydrolase α-galactosidase A (α-Gal A), and is characterized by pathological accumulation of the substrate, globotriaosylc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a14af211f105a388539aec843d86bc52
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
https://doi.org/10.1111/j.1742-4658.2010.07588.x
Publikováno v:
Molecular Genetics and Metabolism. 108:S40-S41
p For nearly forty years, the accumulation of GlcCer and GlcSph has been demonstrated in affected tissues of Gaucher patients - both in the viscera and CNS. Despite its lower abundance when compared to GlcCer, GlcSph has been shown to be cytotoxic to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::824b15f9b3419fb13a03ce23c1ceb1bf
https://doi.org/10.1016/j.ymgme.2012.11.087
https://doi.org/10.1016/j.ymgme.2012.11.087
Autor:
Richie Khanna, Yi Lun, Brian Ranes, Lee Pellegrino, Sean W. Clark, Anadina Garcia, John J. Flanagan, Jessie Feng, Kenneth J. Valenzano, David J. Lockhart, Rebecca Soska, Michelle Frascella, Darlene Guillen
Publikováno v:
Molecular Genetics and Metabolism. 105:S40
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c893d0f3aed6db4cc7eade24de0499a5
https://doi.org/10.1016/j.ymgme.2011.11.093
https://doi.org/10.1016/j.ymgme.2011.11.093
Publikováno v:
Molecular Genetics and Metabolism. 96:S37
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::03ca7d3e56ac0d9e01c63a3692869cd3
https://doi.org/10.1016/j.ymgme.2008.11.114
https://doi.org/10.1016/j.ymgme.2008.11.114
Autor:
Richie Khanna, Jessie Feng, Brian Ranes, Ken Valenzano, Michelle Zdancewicz, George Neusch, Terry Yin, Hung V. Do, Rebecca Soska, John J. Flanagan, David J. Lockhart
Publikováno v:
Molecular Genetics and Metabolism. 96:S24
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e457e2211e5e4b2704864de85822135
https://doi.org/10.1016/j.ymgme.2008.11.056
https://doi.org/10.1016/j.ymgme.2008.11.056
Autor:
C.W. Pine, Frank Insinga, Paul M. Fernhoff, Paige Kaplan, Gregory A. Grabowski, Neal J. Weinreb, David J. Lockhart, John J. Flanagan, Do Hung, David Palling, Brandon Wustman, Gregory M. Pastores, Brian Ranes
Publikováno v:
Molecular Genetics and Metabolism. 93:44
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7a8efa84a8c423d45f257bd6d685912
https://doi.org/10.1016/j.ymgme.2007.10.126
https://doi.org/10.1016/j.ymgme.2007.10.126