A5062016866- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Spinal Cord Injury Research
- Congenital Diaphragmatic Hernia Studies
- Amyotrophic Lateral Sclerosis Research
- Congenital Anomalies and Fetal Surgery
- Microgrid Control and Optimization
- Muscle Physiology and Disorders
University of Aberdeen
2019-2022
University of Edinburgh
2020
Mott MacDonald (United Kingdom)
2020
Spinal muscular atrophy (SMA) occurs as a result of cell-ubiquitous depletion the essential survival motor neuron (SMN) protein. Characteristic disease pathology is driven by particular vulnerability ventral neurons spinal cord to decreased SMN. Perhaps not surprisingly, many other organ systems are also impacted SMN depletion. The normal kidney expresses very high levels protein, equivalent those found in nervous system and liver, dramatically lowered ~90-95% mouse models SMA. Taken...
Spinal muscular atrophy (SMA) is a neuromuscular disorder due to degeneration of spinal cord motor neurons caused by deficiency the ubiquitously expressed SMN protein. Here, we present retinal vascular defect in patients, recapitulated SMA transgenic mice, driven failure angiogenesis and maturation blood vessels. Importantly, phenotype was rescued early, systemic restoration therapy mice. We also demonstrate patients an unfavorable imbalance between endothelial injury repair, as indicated...
Abstract Objective The purpose of the study was to determine extent and role systemic hypoxia in pathogenesis spinal muscular atrophy (SMA). Methods Hypoxia assayed vivo early‐symptomatic (postnatal day 5) SMA‐model mice by pimonidazole [ 18 F]‐Fluoroazomycin arabinoside injections, which accumulate hypoxic cells, followed immunohistochemistry tracer biodistribution evaluation. Glucose uptake cells F]‐Fluorodeoxyglucose labeling. In vitro knockdown Survival Motor Neuron (SMN) performed on...