Zobrazeno 1 - 10
of 120
pro vyhledávání: '"Gerald F, Cox"'
Autor:
Ian Yi-Feng Chang, Hong-Chieh Tsai, Chia-Hua Chen, Hsiu-Chi Chen, Chia-Wen Huang, Gerald F. Cox, Fang-Min Huang, You-Yu Lin, Ko-Ting Chen, Ya-Jui Lin, Kuo-Chen Wei
Publikováno v:
Biomedical Journal, Vol 47, Iss 4, Pp 100660- (2024)
Background: A previous phase 1 dose-escalation study in Taiwan indicated CAN008 (asunercept) with standard concurrent chemoradiotherapy (CCRT) improved progression-free survival (PFS) in newly diagnosed glioblastoma (GBM) patients. This study evaluat
Externí odkaz:
https://doaj.org/article/478a8b15ce1943c2bbd16b97d38fbb54
Autor:
Qing Xie, Xiupeng Chen, Hong Ma, Yunxiang Zhu, Yijie Ma, Leila Jalinous, Gerald F Cox, Fiona Weaver, Jun Yang, Zachary Kennedy, Alisha Gruntman, Ailing Du, Qin Su, Ran He, Phillip WL Tai, Guangping Gao, Jun Xie
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 4, Pp 945-965 (2024)
Abstract Physiological regulation of transgene expression is a major challenge in gene therapy. Onasemnogene abeparvovec (Zolgensma®) is an approved adeno-associated virus (AAV) vector gene therapy for infants with spinal muscular atrophy (SMA), how
Externí odkaz:
https://doaj.org/article/4e7a21bfc0d24ec095ce22f8d8fa7575
Autor:
Kimberly A. Chapman, Devon MacEachern, Gerald F. Cox, Mavis Waller, Jeanine Fogarty, Suzanne Granger, Miganush Stepanians, Susan Waisbren
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 34, Iss , Pp 100953- (2023)
Introduction: This pilot study assessed instruments measuring relatively discrete neuropsychological domains to inform the selection of clinical outcome assessments that may be considered for interventional trials in methylmalonic acidemia (MMA) and
Externí odkaz:
https://doaj.org/article/fe4e398df88d4a418127511987ea86fd
Autor:
Nicole Lyn, Ruth Pulikottil-Jacob, Camille Rochmann, Robert Krupnick, Chad Gwaltney, Nick Stephens, Julie Kissell, Gerald F. Cox, Tanya Fischer, Alaa Hamed
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
Abstract Background The GM2 gangliosidoses (GM2), Tay-Sachs and Sandhoff diseases, are rare, autosomal recessive genetic disorders caused by mutations in the lysosomal enzyme β-hexosaminidase A (HEXA) or β-hexosaminidase B (HEXB) genes, respectivel
Externí odkaz:
https://doaj.org/article/503b96c9ebf2418784da0cbb633c808e
Autor:
Lucie Vu, Gerald F. Cox, Jennifer Ibrahim, M. Judith Peterschmitt, Leorah Ross, Nathan Thibault, Sandrine Turpault
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Eliglustat is an oral glucosylceramide synthase inhibitor indicated for the long-term treatment of adults with Gaucher disease type 1 and CYP2D6 extensive, intermediate, or poor metabolizer phenotypes. Eliglustat is metabolized primarily by CYP2D6 an
Externí odkaz:
https://doaj.org/article/e04053df537741a0847fb03918901230
Autor:
Roberto Giugliani, Taiane Alves Vieira, Clarissa Gutierrez Carvalho, Maria-Veronica Muñoz-Rojas, Alla N. Semyachkina, Victoria Y. Voinova, Susan Richards, Gerald F. Cox, Yong Xue
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 61-66 (2017)
Enzyme replacement therapy (ERT) can produce anti-drug antibody (ADA) responses that reduce efficacy or lead to hypersensitivity reactions. Six patients with severe mucopolysaccharidosis type I (MPS I/Hurler syndrome) who did not receive hematopoieti
Externí odkaz:
https://doaj.org/article/998a60bde9224e6f8aaf4e30d7753d5e
Publikováno v:
Molecular Genetics and Metabolism. 138:107527
Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate
Autor:
Wei-Lien Chuang, Joshua Pacheco, Samantha Cooper, Jonathan S. Kingsbury, John Hinds, Pavlina Wolf, Petra Oliva, Joan Keutzer, Gerald F. Cox, Kate Zhang
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 55-57 (2015)
Short-chain C6-sphingomyelin is an artificial substrate that was used in an acid sphingomyelinase activity assay for a pilot screening study of patients with Niemann–Pick disease types A and B. Using previously published multiplex and single assay
Externí odkaz:
https://doaj.org/article/ba46dfa394d047ddbe6badab30e4c1ba
Publikováno v:
Molecular genetics and metabolism, vol 137, iss 4
BackgroundNiemann-Pick Disease Type C1 (NPC1) is a disorder of intracellular cholesterol and lipid trafficking that leads to the accumulation of cholesterol and lipids in the late endosomal/lysosomal compartment, resulting in systemic manifestations
Publikováno v:
SSRN Electronic Journal.