A5027286925- Neurogenetic and Muscular Disorders Research
- Congenital Anomalies and Fetal Surgery
- Advanced Proteomics Techniques and Applications
- Protein purification and stability
- RNA modifications and cancer
- Molecular Biology Techniques and Applications
- Mitochondrial Function and Pathology
- Congenital heart defects research
- Computational Drug Discovery Methods
- Alzheimer's disease research and treatments
- Machine Learning in Materials Science
- Radiomics and Machine Learning in Medical Imaging
- Neuroscience and Neuropharmacology Research
- Cardiac Structural Anomalies and Repair
- Genetics and Neurodevelopmental Disorders
- Microbial Natural Products and Biosynthesis
- RNA Research and Splicing
- Muscle Physiology and Disorders
University of Edinburgh
2017-2024
Mott MacDonald (United Kingdom)
2019-2020
Discovery Centre
2019
Degeneration and loss of lower motor neurons is the major pathological hallmark spinal muscular atrophy (SMA), resulting from low levels ubiquitously-expressed survival neuron (SMN) protein. One remarkable, yet unresolved, feature SMA that not all are equally affected, with some populations displaying a robust resistance to disease. Here, we demonstrate selective vulnerability distinct pools arises fundamental modifications their basal molecular profiles. Comparative gene expression...
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in survival motor neuron 1 (SMN1). SMN-restoring therapies have recently emerged; however, preclinical and clinical studies revealed limited therapeutic time window systemic aspects of the disease. This raises fundamental question whether SMA has presymptomatic, developmental components to pathogenesis. We addressed this combining micro-computed tomography (μCT) comparative proteomics examine pre-symptomatic changes...
Western blotting is a technique that commonly used to detect and quantify protein expression. Over the years, this has led many advances in both basic clinical research. However, as with similar experimental techniques, outcome of blot analyses easily influenced by choices made design execution experiment. Specific housekeeping proteins have traditionally been normalize levels for quantification, however, these number limitations therefore increasingly criticized over past few years. Here,...
Synapses are a primary pathological target in neurodegenerative diseases. Identifying therapeutic targets at the synapse could delay progression of numerous conditions. The mitochondrial protein SFXN3 is neuronally enriched expressed synaptic terminals and regulated by key proteins, including α‐synuclein. We first show that uses carrier import pathway to insert into inner membrane. Using high‐resolution proteomics on Sfxn3 ‐KO mice synapses, we then demonstrate influences proteins pathways...
Western blotting is a technique that commonly used to detect and quantify protein expression. Over the years, this has led many advances in both basic clinical research. However, as with similar experimental techniques, outcome of blot analyses easily influenced by choices made design execution experiment. Specific housekeeping proteins have traditionally been normalize levels for quantification, however, these number limitations therefore increasingly criticized over past few years. Here,...