27 Result(s)
within
Article
Simon N. Waddington
English
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Article
Open AccessLDLR-Gene therapy for familial hypercholesterolaemia: problems, progress, and perspectives
Coronary artery diseases (CAD) inflict a heavy economical and social burden on most populations and contribute significantly to their morbidity and mortality rates. Low-density lipoprotein receptor (LDLR) asso...
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Development of S/MAR minicircles for enhanced and persistent transgene expression in the mouse liver
We have previously described the development of a scaffold/matrix attachment region (S/MAR) episomal vector system for in vivo application and demonstrated its utility to sustain transgene expression in the mo...
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The CD46-Jagged1 interaction is critical for human TH1 immunity
The complement receptor CD46 and the Notch-Jagged system are important for the differentiation of helper T cells. Kemper and colleagues demonstrate that Jagged1 is a physiological ligand for CD46 and is critic...
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Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes
Lysosomal glucocerebrosidase (GBA1) deficiency is causative for Gaucher disease. Not all individuals with GBA1 mutations develop neurological involvement raising the possibility that other factors may provide ...
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Erratum to: Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes
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Open AccessIn vivo bioimaging with tissue-specific transcription factor activated luciferase reporters
The application of transcription factor activated luciferase reporter cassettes in vitro is widespread but potential for in vivo application has not yet been realized. Bioluminescence imaging enables non-invasive...
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Open AccessA Broad Overview and Review of CRISPR-Cas Technology and Stem Cells
The pinnacle of four decades of research, induced pluripotent stem cells (iPSCs), and genome editing with the advent of clustered, regularly interspaced, short palindromic repeats (CRISPR) now promise to take ...
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Open AccessModeling hormonal and inflammatory contributions to preterm and term labor using uterine temporal transcriptomics
Preterm birth is now recognized as the primary cause of infant mortality worldwide. Interplay between hormonal and inflammatory signaling in the uterus modulates the onset of contractions; however, the relativ...
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Open AccessRegulation of post-Golgi LH3 trafficking is essential for collagen homeostasis
Post-translational modifications are necessary for collagen precursor molecules (procollagens) to acquire final shape and function. However, the mechanism and contribution of collagen modifications that occur ...
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Open AccessLongitudinal in vivo bioimaging of hepatocyte transcription factor activity following cholestatic liver injury in mice
Molecular mechanisms regulating liver repair following cholestatic injury remain largely unknown. We have combined a mouse model of acute cholestatic liver injury, partial bile duct ligation (pBDL), with a nov...
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Open AccessLentiviral vectors can be used for full-length dystrophin gene therapy
Duchenne Muscular Dystrophy (DMD) is caused by a lack of dystrophin expression in patient muscle fibres. Current DMD gene therapy strategies rely on the expression of internally deleted forms of dystrophin, mi...
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Open AccessLentiviral vectors can be used for full-length dystrophin gene therapy
Duchenne Muscular Dystrophy (DMD) is caused by a lack of dystrophin expression in patient muscle fibres. Current DMD gene therapy strategies rely on the expression of internally deleted forms of dystrophin, mi...
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Open AccessExpanding the phenotype in argininosuccinic aciduria: need for new therapies
This UK-wide study defines the natural history of argininosuccinic aciduria and compares long-term neurological outcomes in patients presenting clinically or treated prospectively from birth with ammonia-lower...
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Open AccessGene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects
Over the last decade, pioneering liver-directed gene therapy trials for haemophilia B have achieved sustained clinical improvement after a single systemic injection of adeno-associated virus (AAV) derived vect...
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Open AccessContinual conscious bioluminescent imaging in freely moving somatotransgenic mice
Luciferase bioimaging in living animals is increasingly being applied in many fields of biomedical research. Rodent imaging usually involves anaesthetising the animal during data capture, however, the biologic...
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Open AccessErratum: Lentiviral vectors can be used for full-length dystrophin gene therapy
Scientific Reports 7: Article number: 44775; published online: 17 March 2017; updated: 29 August 2017. This article was published twice in error during a change in production systems. The publisher apologizes ...
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Open AccessArgininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer
Argininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characteri...
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Fetal gene therapy for neurodegenerative disease of infants
For inherited genetic diseases, fetal gene therapy offers the potential of prophylaxis against early, irreversible and lethal pathological change. To explore this, we studied neuronopathic Gaucher disease (nGD...
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Open AccessProduction of lentiviral vectors using novel, enzymatically produced, linear DNA
The manufacture of large quantities of high-quality DNA is a major bottleneck in the production of viral vectors for gene therapy. Touchlight Genetics has developed a proprietary abiological technology that ad...
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Open AccessIn Utero Gene Therapy (IUGT) Using GLOBE Lentiviral Vector Phenotypically Corrects the Heterozygous Humanised Mouse Model and Its Progress Can Be Monitored Using MRI Techniques
In utero gene therapy (IUGT) to the fetal hematopoietic compartment could be used to treat congenital blood disorders such as β-thalassemia. A humanised mouse model of β-thalassemia was used, in which heterozy...
