Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Hadis Williams"'
Autor:
Yin-Hsiu Chien, Elfrida Benjamin, Benedikt Schoser, Priya Kishnani, Tahseen Mozaffar, Jordi Díaz-Manera, Franklin Johnson, Sheela Sitaraman Das, Anju Nair, Hadis Williams, Eric Anderson, John T. Mondick, Anthony Sileno
Publikováno v:
Molecular Genetics and Metabolism. 135:S30
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b5ab9215e6b20c7e51c48a2743ba63f
https://doi.org/10.1016/j.ymgme.2021.11.062
https://doi.org/10.1016/j.ymgme.2021.11.062
Autor:
Elfrida R. Benjamin, Behzad Najafian, Hadis Williams, Jay A. Barth, A.N. Sokolovskiy, Jeffrey P. Castelli, Michael Mauer
Publikováno v:
Journal of Medical Genetics
Objective Deficiency of α-galactosidase A (αGal-A) in Fabry disease leads to the accumulation mainly of globotriaosylceramide (GL3) in multiple renal cell types. Glomerular podocytes are relatively resistant to clearance of GL3 inclusions by enzyme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a4cc8560a15ed4470495518353c5947
http://europepmc.org/articles/PMC5740534
http://europepmc.org/articles/PMC5740534
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:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de65340e3a588070f15ba617b10899e2
https://doi.org/10.1038/gim.2016.122
https://doi.org/10.1038/gim.2016.122
Autor:
William L. Klein, Andrika Morant, Elysse M. Knight, Robert Boyd, B A Wustman, E R Sjoberg, D J Lockhart, K Yanagisawa, Sam Gandy, Soong Ho Kim, Jessica Kottwitz, A C Stevens, Michelle E. Ehrlich, Hadis Williams, John W. Steele
Publikováno v:
Molecular Psychiatry
Certain mutant Alzheimer's amyloid-β (Aβ) peptides (that is, Dutch mutant APP(E693Q)) form complexes with gangliosides (GAβ). These mutant Aβ peptides may also undergo accelerated aggregation and accumulation upon exposure to GM2 and GM3. We hypo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edeef5e91f2b15d57407711fab1b76e7
http://europepmc.org/articles/PMC5189927
http://europepmc.org/articles/PMC5189927
Autor:
Roberto Giugliani, Dominique P. Germain, Kathleen Nicholls, Daniel G. Bichet, Jay A. Barth, Raphael Schiffmann, William R. Wilcox, Julie Yu, Nina Skuban, Derralynn Hughes, Jeffrey P. Castelli, Hadis Williams
Publikováno v:
Nephrology Dialysis Transplantation. 33:i347-i348
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6e561d15db5e3ea2072e48db8385bf0
https://doi.org/10.1093/ndt/gfy104.sp004
https://doi.org/10.1093/ndt/gfy104.sp004
Publikováno v:
Molecular Genetics and Metabolism. 126:S108
Fabry disease is a rare, X-linked disorder of α-galactosidase A (α-Gal A) deficiency caused by mutations in the GLA gene, resulting in substrate accumulation and multi-organ deterioration. Migalastat is a first-in-class, oral, small-molecule pharma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::333ba31b3f6cc16d0fa701aa282b081c
https://doi.org/10.1016/j.ymgme.2018.12.272
https://doi.org/10.1016/j.ymgme.2018.12.272
Publikováno v:
Molecular Genetics and Metabolism. 126:S31
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1e2e87d2c8a70831801e93433246d609
https://doi.org/10.1016/j.ymgme.2018.12.058
https://doi.org/10.1016/j.ymgme.2018.12.058
Autor:
Nina Skuban, Raphael Schiffmann, Caren Swift, Hadis Williams, Jay A. Barth, Jeffrey P. Castelli
Publikováno v:
Molecular Genetics and Metabolism. 123:S138
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb77d31cadffb9753b3f3ceb37c56f9e
https://doi.org/10.1016/j.ymgme.2017.12.378
https://doi.org/10.1016/j.ymgme.2017.12.378
Autor:
Behzad Najafian, Jay A. Barth, Hadis Williams, Michael Mauer, Jeff Castelli, A.N. Sokolovskiy
Publikováno v:
Molecular Genetics and Metabolism. 117:S85
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a38a97da9257e87239da8b3c18f484c
https://doi.org/10.1016/j.ymgme.2015.12.374
https://doi.org/10.1016/j.ymgme.2015.12.374
Autor:
John J. Flanagan, Gary Lee, Brandon Wustman, Leo B. Dungan, David J. Lockhart, Anthony Stevens, Vernon Alford, Darlene Guillen, Hadis Williams, Evan Katz, Eric Sjoberg, Xiaoyang Wu, Carolyn Collins, Sam Gandy
Publikováno v:
Alzheimer's & Dementia. 8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::380ad68b5b32b429ff2f2d321dc47c90
https://doi.org/10.1016/j.jalz.2012.05.644
https://doi.org/10.1016/j.jalz.2012.05.644