A5071983392- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Ubiquitin and proteasome pathways
- RNA modifications and cancer
- Animal Genetics and Reproduction
- Alzheimer's disease research and treatments
- Neuroscience and Neuropharmacology Research
- Cellular transport and secretion
- Receptor Mechanisms and Signaling
University of Edinburgh
2020-2025
National Centre for Biological Sciences
2020-2022
Institute for Stem Cell Biology and Regenerative Medicine
2020
Mutations in SYNGAP1 are a common genetic cause of intellectual disability (ID) and risk factor for autism. encodes synaptic GTPase-activating protein (GAP) that has both signaling scaffolding roles. Most pathogenic variants predicted to result haploinsufficiency. However, some affected individuals carry missense mutations its calcium/lipid binding (C2) GAP domains, suggesting many clinical features from loss functions carried out by these domains. To test this hypothesis, we targeted the...
Abstract Dysregulated protein synthesis is a core pathogenic mechanism in Fragile X Syndrome (FX). The mGluR Theory of FX predicts that pathological synaptic changes arise from the excessive translation mRNAs downstream mGlu 1/5 activation. Here, we use combination CA1 pyramidal neuron-specific TRAP-seq and proteomics to identify overtranslating supporting exaggerated -induced long-term depression (mGluR-LTD) mouse model ( Fmr1 −/y ). Our results significant increase ribosomal proteins (RPs)...
Accurately determining the sample size ("N") of a dataset is key consideration for experimental design. Misidentification can lead to pseudoreplication, process artificially inflating number replicates which systematically underestimates variability, overestimates effect sizes and invalidates statistical tests performed on data. While many journals have adopted stringent requirements with regard reporting over last decade, it remains unknown whether such efforts had meaningful impact rigour....
Mutations in the postsynaptic transmembrane protein neuroligin-3 are highly correlative with autism spectrum disorders (ASDs) and intellectual disabilities (IDs). Fear learning is well studied models of these disorders, however differences fear response behaviours often overlooked. We aim to examine behaviour its cellular underpinnings a rat model ASD/ID lacking Nlgn3. This study uses range behavioural tests understand Nlgn3-/y rats. Following this, we examined physiological this neurons...
Summary Mutations in the postsynaptic transmembrane protein neuroligin-3 are highly correlative with autism spectrum disorders (ASDs) and intellectual disabilities (IDs). Fear learning is well studied models of these disorders, however differences fear response behaviours often overlooked. Whilst examining a rat model ASD/ID lacking Nlgn3 , we observed that they display greater propensity to exhibit flight responses contrast classic freezing seen wildtypes during fearful situations....
Abstract Dysregulated protein synthesis is a core pathogenic mechanism in Fragile X Syndrome (FX). The mGluR Theory of FX predicts that pathological synaptic changes arise from the excessive translation mRNAs downstream mGlu 1/5 activation. Here, we use combination CA1 pyramidal neuron-specific TRAP-seq and proteomics to identify overtranslating supporting exaggerated -induced long-term depression (mGluR-LTD) mouse model ( Fmr1 -/y ). Surprisingly, our results robust ribosomal proteins (RPs)...