Martin-Gutierrez, Maria Pilar Buckley, Thomas Mw MacLaren, Robert E
Published in
European journal of ophthalmology
We present the case of a 72-year-old male with advanced choroideremia and a left chronic rhegmatogenous retinal detachment, which to our knowledge is the first formal report of a retinal detachment in this disease. Choroideremia is a rare X-linked inherited retinal dystrophy, caused by mutations in the CHM gene which encodes Rab escort protein 1 (R...
Taiber, Shahar Cohen, Roie Yizhar-Barnea, Ofer Sprinzak, David Holt, Jeffrey R Avraham, Karen B
Published in
EMBO molecular medicine
Genetic variants account for approximately half the cases of congenital and early-onset deafness. Methods and technologies for viral delivery of genes into the inner ear have evolved over the past decade to render gene therapy a viable and attractive approach for treatment. Variants in SYNE4, encoding the protein nesprin-4, a member of the linker o...
Hede, Eva Christiansen, Christine B Heegaard, Christian W Moos, Torben Burkhart, Annette
Published in
Journal of neurochemistry
Treatment of many diseases affecting the central nervous system (CNS) is complicated by the inability of several therapeutics to cross the blood-brain barrier (BBB). Genetically modifying brain capillary endothelial cells (BCECs) denotes an approach to overcome the limitations of the BBB by turning BCECs into recombinant protein factories. This wil...
Garcia-Perez, Laura van Eggermond, Marja C.J.A. Maietta, Elisa van der Hoorn, Marie-Louise P. Pike-Overzet, Karin Staal, Frank J. T.
Published in
Frontiers in Immunology
Many preclinical and clinical studies of hematopoietic stem cell-based gene therapy (GT) are based on the use of lentiviruses as the vector of choice. Assessment of the vector titer and transduction efficiency of the cell product is critical for these studies. Efficacy and safety of the modified cell product are commonly determined by assessing the...
Ravi, Bhavya Chan-Cortés, Michelle Harran Sumner, Charlotte J.
The last few decades have seen an explosion in identification of genes that cause monogenetic neurological diseases, as well as advances in gene-targeting therapeutics. Neurological conditions that were once considered incurable are now increasingly tractable. At the forefront is the motor neuron disease spinal muscular atrophy (SMA), historically ...
Fraga, Michelle Schuh, Roselena Silvestri Poletto, Édina de Carvalho, Talita Giacomet França, Raqueli Teresinha Pinheiro, Camila Vieira Baldo, Gilherme Giugliani, Roberto Teixeira, Helder Ferreira Matte, Ursula
...
Published in
Current gene therapy
Mucopolysaccharidosis type I (MPS I) is an inherited disorder caused by α-L-iduronidase (IDUA) deficiency. The available treatments are not effective in improving all signs and symptoms of the disease. In the present study, we evaluated the transfection efficiency of repeated intravenous administrations of cationic nanoemulsions associated with the...
Cattaneo, Stefano Verlengia, Gianluca Marino, Pietro Simonato, Michele Bettegazzi, Barbara
Published in
Frontiers in Molecular Neuroscience
Neuropeptide Y (NPY) is a neuropeptide abundantly expressed in the mammalian central and peripheral nervous system. NPY is a pleiotropic molecule, which influences cell proliferation, cardiovascular and metabolic function, pain and neuronal excitability. In the central nervous system, NPY acts as a neuromodulator, affecting pathways that range from...
Daralnakhla, Haneen Saher, Osama Zamolo, Susanna Bazaz, Safa P. Bost, Jeremy Heitz, Marc Lundin, Karin E. EL Andaloussi, Samir Darbre, Tamis Reymond, Jean-Louis
...
Published in
Pharmaceutics
Non-viral transfection reagents are continuously being developed in attempt to replace viral vectors. Among those non-viral vectors, dendrimers have gained increasing interest due to their unique molecular structure and multivalency. However, more improvements are still needed to achieve higher efficacy and lower toxicity. In this study, we have ex...
Nishimura, Koyo Ogawa, Koki Kawaguchi, Maho Fumoto, Shintaro Mukai, Hidefumi Kawakami, Shigeru
Published in
Pharmaceutics
Gene therapy is expected to be used for the treatment of peritoneal fibrosis, which is a serious problem associated with long-term peritoneal dialysis. Hepatocyte growth factor (HGF) is a well-known anti-fibrotic gene. We developed an ultrasound and nanobubble-mediated (sonoporation) gene transfection system, which selectively targets peritoneal ti...
Rich, Kelly A. Roggenbuck, Jennifer Kolb, Stephen J.
Published in
Frontiers in Neuroscience
Genome-wide association studies (GWAS) and rare variant association studies (RVAS) are applied across many areas of complex disease to analyze variation in whole genomes of thousands of unrelated patients. These approaches are able to identify variants and/or biological pathways which are associated with disease status and, in contrast to tradition...
