Results 31 to 40 of about 172,174 (293)
Molecular Therapy: Nucleic Acids, 2017 Development of a gene delivery system with high efficiency and a good safety profile is essential for successful gene therapy. Here we developed a targeted non-viral delivery system using a multifunctional lipid ECO for treating Leber’s congenital ...
Da Sun +7 more
doaj +1 more source
Gene therapy in neuromuscular disorders
Arquivos de Neuro-Psiquiatria, 2022 Monogenic neuromuscular disorders are potentially treatable through gene therapy. Using viral vectors, a therapeutic transgene aims to restore normal levels of a protein not produced by the defective gene, or to silence a gene whose expression leads to ...
Rodrigo Holanda Mendonça +1 more
doaj +1 more source
Frontiers in Immunology, 2021 The immune response to exogenous proteins can overcome the therapeutic benefits of immunotherapies and hamper the treatment of protein replacement therapies.
Evelien Schurgers, David C. Wraith
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2020 Mucopolysaccharidosis type II is a disease caused by organ accumulation of glycosaminoglycans due to iduronate 2-sulfatase deficiency. This study investigated the pathophysiology of the bone complications associated with mucopolysaccharidosis II and the ...
Miho Wada +13 more
doaj +1 more source
Improved AAV9-based gene therapy design for SURF1-related Leigh syndrome with minimal toxicity
Molecular Therapy: Methods & Clinical DevelopmentSurfeit locus protein 1 (SURF1)-related Leigh syndrome is an early-onset neurodegenerative disorder characterized by a reduction in complex IV activity that disrupts mitochondrial function.
Qinglan Ling +5 more
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2021 Spinal muscular atrophy is a progressive, recessively inherited monogenic neurologic disease, the genetic root cause of which is the absence of a functional survival motor neuron 1 gene. Onasemnogene abeparvovec (formerly AVXS-101) is an adeno-associated
John W. Day +7 more
doaj +1 more source
Hematopoietic stem cell gene replacement therapy [PDF]
Biochimica et Biophysica Acta (BBA) - Reviews on Cancer, 1992 Human gene therapy trials have begun, and by early reports are a success [1]. The initial clinical trial which demonstrated the safety of infusing genetically marked lymphocytes into humans was reported in 1990 [2]. This paved the way for researchers at the National Institutes of Health (NIH) :o begin the first therapeutic trials of treating adenosine ...
openaire +3 more sources
Paving a way to treat spastic paraplegia 50
The Journal of Clinical Investigation, 2023 Spastic paraplegia 50 (SPG50) is a rare neurodegenerative disease caused by loss-of-function mutations in AP4M1. There are no effective treatments for SPG50 or any other type of SPG, and current treatments are limited to symptomatic management.
Jonathan R. Brent, Han-Xiang Deng
doaj +1 more source
Genome editing in the adrenal gland: a novel strategy for treating congenital adrenal hyperplasia [PDF]
Exploration of Endocrine and Metabolic DiseasesCongenital adrenal hyperplasia due to 21-hydroxylase deficiency leads to high morbidity and mortality, despite the availability of life-saving corticosteroid replacement therapy.
Eva B. van Dijk +3 more
doaj +1 more source
New developments in the molecular treatment of ichthyosis: review of the literature
Orphanet Journal of Rare Diseases, 2022 Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent years, new advances in understanding the pathophysiology of ichthyosis have been made.
M. D. W. Joosten +4 more
doaj +1 more source