30 Result(s)
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Simon N. Waddington
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Article
Open AccessDysregulated Wnt and NFAT signaling in a Parkinson’s disease LRRK2 G2019S knock-in model
Parkinson’s disease (PD) is a progressive late-onset neurodegenerative disease leading to physical and cognitive decline. Mutations of leucine-rich repeat kinase 2 (LRRK2) are the most common genetic cause of PD....
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Article
Open AccessGenomic investigations of unexplained acute hepatitis in children
Since its first identification in Scotland, over 1,000 cases of unexplained paediatric hepatitis in children have been reported worldwide, including 278 cases in the UK1. Here we report an investigation of 38 cas...
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Article
Open AccessHIV- 1 lentivirus tethering to the genome is associated with transcription factor binding sites found in genes that favour virus survival
Lentiviral vectors (LV) are attractive for permanent and effective gene therapy. However, integration into the host genome can cause insertional mutagenesis highlighting the importance of understanding of LV i...
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Open AccessCorrection: Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessImpaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload
Heterozygous mutations of the lysosomal enzyme glucocerebrosidase (GBA1) represent the major genetic risk for Parkinson’s disease (PD), while homozygous GBA1 mutations cause Gaucher disease, a lysosomal storage d...
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Article
Open AccessGeneration of light-producing somatic-transgenic mice using adeno-associated virus vectors
We have previously designed a library of lentiviral vectors to generate somatic-transgenic rodents to monitor signalling pathways in diseased organs using whole-body bioluminescence imaging, in conscious, free...
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Protocol
Continual Conscious Bioluminescent Imaging in Freely Moving Mice
In vivo bioluminescent imaging allows the detection of reporter gene expression in rodents in real time. Here we describe a novel technology whereby we can generate somatotransgenic rodents with the use of a v...
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Article
Open AccessPublisher Correction: In Utero Gene Therapy (IUGT) Using GLOBE Lentiviral Vector Phenotypically Corrects the Heterozygous Humanised Mouse Model and Its Progress Can Be Monitored Using MRI Techniques
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
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...
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Article
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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Article
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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Article
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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Article
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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Article
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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Article
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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Article
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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Article
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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Article
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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Article
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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Protocol
Bioluminescence Monitoring of Promoter Activity In Vitro and In Vivo
The application of luciferase reporter to provide quantitative outputs for the activation of promoters is a well-established technique in molecular biology. Luciferase catalyzes an enzymatic reaction, which ...
