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

Antisense Oligonucleotide-mediated Suppression of Muscle Glycogen Synthase 1 Synthesis as an Approach for Substrate Reduction Therapy of Pompe Disease

Autor: Nicholas P Clayton, Carol A Nelson, Timothy Weeden, Kristin M Taylor, Rodney J Moreland, Ronald K Scheule, Lucy Phillips, Andrew J Leger, Seng H Cheng, Bruce M Wentworth

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 3, Iss C (2014)

Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase (GAA; EC 3.2.1.20) and the resultant progressive lysosomal accumulation of glycogen in skeletal and cardiac muscles. Enzyme replacement therapy using recom

Externí odkaz: https://doaj.org/article/cc5392267a07419090c8a0e91d1a8ae4

A bispecific protein capable of engaging CTLA-4 and MHCII protects non-obese diabetic mice from autoimmune diabetes.

Autor: Hongmei Zhao, Jozsef Karman, Ji-Lei Jiang, Jinhua Zhang, Nathan Gumlaw, John Lydon, Qun Zhou, Huawei Qiu, Canwen Jiang, Seng H Cheng, Yunxiang Zhu

Publikováno v: PLoS ONE, Vol 8, Iss 5, p e63530 (2013)

Crosslinking ligand-engaged cytotoxic T lymphocyte antigen-4 (CTLA-4) to the T cell receptor (TCR) with a bispecific fusion protein (BsB) comprised of a mutant mouse CD80 and lymphocyte activation antigen-3 (LAG-3) has been shown to attenuate TCR sig

Externí odkaz: https://doaj.org/article/4bc2461a64c84f2eb8cb8f2124dc291e

Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease.

Autor: Mario A Cabrera-Salazar, Matthew Deriso, Scott D Bercury, Lingyun Li, John T Lydon, William Weber, Nilesh Pande, Mandy A Cromwell, Diane Copeland, John Leonard, Seng H Cheng, Ronald K Scheule

Publikováno v: PLoS ONE, Vol 7, Iss 8, p e43310 (2012)

Neuropathic Gaucher disease (nGD), also known as type 2 or type 3 Gaucher disease, is caused by a deficiency of the enzyme glucocerebrosidase (GC). This deficiency impairs the degradation of glucosylceramide (GluCer) and glucosylsphingosine (GluSph),

Externí odkaz: https://doaj.org/article/ec8f627f58cc40f6871e8639ff2b14b9