Rationale for using centralized transduction inhibition assays in three phase 3 rAAV gene therapy clinical trials

Autor: Martin Schulz, George Bashirians, Seng H. Cheng, Daniel I. Levy, Mark Lundie, Lisa Wilcox, Ian Winburn, Suryanarayan Somanathan

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 31, Iss , Pp 101119- (2023)

Externí odkaz: https://doaj.org/article/077015dce6a545428a515386a018bce6

Dysregulated DNA methylation in the pathogenesis of Fabry disease

Autor: Jin-Song Shen, Uthra Balaji, Kunitoshi Shigeyasu, Yoshinaga Okugawa, Siamak Jabbarzadeh-Tabrizi, Taniqua S. Day, Erland Arning, John Marshall, Seng H. Cheng, Jinghua Gu, Raphael Schiffmann, Teodoro Bottiglieri, Ajay Goel

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100919- (2022)

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and subsequent accumulation of glycosphingolipids with terminal α-D-galactosyl residues. The molecular process through which this abnormal metabolis

Externí odkaz: https://doaj.org/article/1a8df2290a0e4d9c86cc9139ef242318

AAV ‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts

Autor: Megan L. Brophy, John C. Stansfield, Youngwook Ahn, Seng H. Cheng, John E. Murphy, Robert D. Bell

Publikováno v: Journal of Inherited Metabolic Disease. 45:481-492

Classic galactosemia (CG) is a rare disorder of autosomal recessive inheritance. It is caused predominantly by point mutations as well as deletions in the gene encoding the enzyme galactose-1-phosphate uridyltransferase (GALT). The majority of the mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae494f19470e921a5c2cec5beb18d5f5
https://doi.org/10.1002/jimd.12468

A randomised, double-blind, placebo-controlled trial of repeated nebulisation of non-viral cystic fibrosis transmembrane conductance regulator (CFTR) gene therapy in patients with cystic fibrosis

Autor: Eric WFW Alton, David K Armstrong, Deborah Ashby, Katie J Bayfield, Diana Bilton, Emily V Bloomfield, A Christopher Boyd, June Brand, Ruaridh Buchan, Roberto Calcedo, Paula Carvelli, Mario Chan, Seng H Cheng, David S Collie, Steve Cunningham, Heather E Davidson, Gwyneth Davies, Jane C Davies, Lee A Davies, Maria H Dewar, Ann Doherty, Jackie Donovan, Natalie S Dwyer, Hala I Elgmati, Rosanna F Featherstone, Jemyr Gavino, Sabrina Gea-Sorli, Duncan M Geddes, James SR Gibson, Deborah R Gill, Andrew P Greening, Uta Griesenbach, David M Hansell, Katharine Harman, Tracy E Higgins, Samantha L Hodges, Stephen C Hyde, Laura Hyndman, J Alastair Innes, Joseph Jacob, Nancy Jones, Brian F Keogh, Maria P Limberis, Paul Lloyd-Evans, Alan W Maclean, Michelle C Manvell, Dominique McCormick, Michael McGovern, Gerry McLachlan, Cuixiang Meng, M Angeles Montero, Hazel Milligan, Laura J Moyce, Gordon D Murray, Andrew G Nicholson, Tina Osadolor, Javier Parra-Leiton, David J Porteous, Ian A Pringle, Emma K Punch, Kamila M Pytel, Alexandra L Quittner, Gina Rivellini, Clare J Saunders, Ronald K Scheule, Sarah Sheard, Nicholas J Simmonds, Keith Smith, Stephen N Smith, Najwa Soussi, Samia Soussi, Emma J Spearing, Barbara J Stevenson, Stephanie G Sumner-Jones, Minna Turkkila, Rosa P Ureta, Michael D Waller, Marguerite Y Wasowicz, James M Wilson, Paul Wolstenholme-Hogg, on behalf of the UK Cystic Fibrosis Gene Therapy Consortium

Publikováno v: Efficacy and Mechanism Evaluation, Vol 3, Iss 5 (2016)

Background: Cystic fibrosis (CF) is a chronic, life-limiting disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene leading to abnormal airway surface ion transport, chronic lung infections, inflammation and eventual re

Externí odkaz: https://doaj.org/article/09b29fe1b155492fba24a177fe4be24c

Widespread AAV1- and AAV2-mediated transgene expression in the nonhuman primate brain: implications for Huntington's disease

Autor: Piotr Hadaczek, Lisa Stanek, Agnieszka Ciesielska, Vivek Sudhakar, Lluis Samaranch, Philip Pivirotto, John Bringas, Catherine O'Riordan, Bryan Mastis, Waldy San Sebastian, John Forsayeth, Seng H Cheng, Krystof S Bankiewicz, Lamya S Shihabuddin

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 3, Iss C (2016)

Huntington's disease (HD) is caused by a toxic gain-of-function associated with the expression of the mutant huntingtin (htt) protein. Therefore, the use of RNA interference to inhibit Htt expression could represent a disease-modifying therapy. The p

Externí odkaz: https://doaj.org/article/43ac05468e3949adbb6afe92f17bbcd0