A5083414456- Lysosomal Storage Disorders Research
- Virus-based gene therapy research
- Soil and Water Nutrient Dynamics
- Water Quality and Pollution Assessment
- Cellular transport and secretion
- bioluminescence and chemiluminescence research
- Aquatic Ecosystems and Phytoplankton Dynamics
- Environmental Science and Water Management
- Groundwater and Isotope Geochemistry
- Soil erosion and sediment transport
- RNA Interference and Gene Delivery
- Retinal Development and Disorders
- Metabolism and Genetic Disorders
- CRISPR and Genetic Engineering
- Parkinson's Disease Mechanisms and Treatments
- Viral gastroenteritis research and epidemiology
- Neuroendocrine Tumor Research Advances
- Fish Ecology and Management Studies
- Advanced Sensor and Energy Harvesting Materials
- Geology and Paleoclimatology Research
- Cytomegalovirus and herpesvirus research
- Mosquito-borne diseases and control
- Neurological diseases and metabolism
- Mitochondrial Function and Pathology
- Hydrology and Sediment Transport Processes
University College London
2010-2023
New York Hospital Queens
2019
Memorial Sloan Kettering Cancer Center
2019
NewYork–Presbyterian Hospital
2019
Cornell University
2019
Weill Cornell Medicine
2019
University College Lillebaelt
2019
University College Lahore
2018
Royal Botanic Garden Edinburgh
2007
UCL Australia
2007
Refractory focal epilepsy is a devastating disease for which there frequently no effective treatment. Gene therapy represents promising alternative, but treating in this way involves irreversible changes to brain tissue, so vector design must be carefully optimized guarantee safety without compromising efficacy. We set out develop an gene clinical translation. The encoding the voltage-gated potassium channel Kv1.1, KCNA1 , was codon human expression and mutated accelerate recovery of...
Niemann–Pick type C disease (NP-C) is a fatal neurodegenerative lysosomal storage disorder. It caused in 95% of cases by mutation the NPC1 gene that encodes NPC1, an integral transmembrane protein localized to limiting membrane lysosome. There no cure for NP-C but there disease-modifying drug (miglustat) slows progression with associated side effects. Here, we demonstrate well-characterized mouse model single administration AAV-mediated therapy brain can significantly extend lifespan,...
SUMMARY We have studied growth hormone production in a patient with bronchial carcinoid and acromegaly. The absence of from the tumour was demonstrated by extraction, cell culture immunoperoxidase techniques. Using linked perfusion system, effluent stimulated rapid release rat pituitary mono‐layer. This is first time evidence releasing activity has been clinical biochemical manifestations excess production.
Abstract Argininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and citrulline-nitric oxide (NO) producing NO. ASL-deficient patients present argininosuccinic aciduria characterised by hyperammonaemia, multiorgan disease neurocognitive impairment despite treatment aiming normalise ammonaemia without considering NO imbalance. Here we show that cerebral in involves neuronal oxidative/nitrosative stress independent of hyperammonaemia. Intravenous injection AAV8...
Gaucher disease is caused by mutations in the GBA gene, which encodes for lysosomal enzyme β-glucocerebrosidase (GCase), resulting accumulation of storage material visceral organs and some cases brain affected patients. While there a commercially available treatment systemic manifestations, neuropathology still remains untreatable. We previously demonstrated that gene therapy represents feasible therapeutic tool neuronopathic forms (nGD). In order to further enhance affects central nervous...
Abstract The neuronal ceroid lipofuscinoses (NCLs), more commonly referred to as Batten disease, are a group of inherited lysosomal storage disorders that present with neurodegeneration, loss vision and premature death. There at least 13 genetically distinct forms NCL. Enzyme replacement therapies pre-clinical studies on gene supplementation have shown promising results for NCLs caused by enzyme deficiencies. development targeting the brain defects in transmembrane proteins has been...
Remote ischemic postconditioning (RIPostC) is a promising therapeutic intervention that could be administered as an alternative to cooling in cases of perinatal hypoxia‐ischemia (HI). In the current study we hypothesized RIPostC piglet model birth asphyxia confers protection by reducing nitrosative stress and subsequent nitrotyrosine formation, well having effect on glial immunoreactivity. Postnatal day 1 (P1) piglets underwent HI brain injury were randomised (control) or + RIPostC....
Abstract Infantile neuroaxonal dystrophy (INAD) is a rare paediatric neurodegenerative condition caused by mutations in the PLA2G6 gene, which also causative gene for PARK14-linked young adult-onset dystonia parkinsonism. INAD patients usually die within their first decade of life, and there are currently no effective treatments available. GLP1 receptor (GLP-1R) agonists licensed treating type 2 diabetes mellitus but have demonstrated neuroprotective properties clinical trial Parkinson’s...
Abstract. The critical loads approach is widely used within Europe to assess the impacts of acid deposition on terrestrial and freshwater ecosystems. Recent work in Great Britain has focused national application First-order Acidity Balance (FAB) model a freshwaters dataset 1470 lake stream water chemistry samples from sites across which were selected represent most sensitive bodies their corresponding 10 km grid square. A ``Critical Load Function" generated for each site compared with load S...
Abstract The Hawara Pyramid is an outstanding monument. However, the mudbrick structure shows signs of erosion, and passages chambers are currently submerged. problem water ingress has mainly arisen since 1880s. In this study, initial assessment pyramid was made causes were investigated through analysis samples. Stable oxygen isotope measurements indicate that source within Bahr Selah canal. Water highly saline compared to Selah, evaporation can only partly account for high salinity....
Abstract We have previously designed a library of lentiviral vectors to generate somatic-transgenic rodents monitor signalling pathways in diseased organs using whole-body bioluminescence imaging, conscious, freely moving rodents. now expanded this technology adeno-associated viral vectors. first explored bio-distribution by assessing GFP expression after neonatal intravenous delivery AAV8. observed widespread gene in, central and peripheral nervous system, liver, kidney skeletal muscle....