A5036806518- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Zebrafish Biomedical Research Applications
- Muscle activation and electromyography studies
- Muscle Physiology and Disorders
- Neuroscience and Neural Engineering
- Cellular Mechanics and Interactions
- Neurogenesis and neuroplasticity mechanisms
- Genetics and Neurodevelopmental Disorders
- Genomics and Chromatin Dynamics
- Genetics, Aging, and Longevity in Model Organisms
- RNA Research and Splicing
- RNA regulation and disease
- Genetic Mapping and Diversity in Plants and Animals
- Neuroendocrine regulation and behavior
- Williams Syndrome Research
- Physiological and biochemical adaptations
- Birth, Development, and Health
- Cancer-related gene regulation
Queen Mary University of London
2022
University College London
2020
National Hospital for Neurology and Neurosurgery
2020
Abstract The neuromuscular junction (NMJ) is the highly specialised peripheral synapse formed between lower motor neuron terminals and muscle fibres. Post‐synaptic acetylcholine receptors (AChRs), which are found in high density membrane, bind to released into synaptic cleft of NMJ, thereby enabling conversion action potentials contractions. NMJs have been studied for many years as a general model formation, development function, known be early sites pathological changes diseases. However,...
BAZ1B is a ubiquitously expressed nuclear protein with roles in chromatin remodeling, DNA replication and repair, transcription. Reduced
Abstract Dominantly inherited, missense mutations in the widely expressed housekeeping gene, GARS1 , cause Charcot-Marie-Tooth type 2D (CMT2D), a peripheral neuropathy characterised by muscle weakness and wasting limb extremities. Mice modelling CMT2D display early selective neuromuscular junction (NMJ) pathology, epitomised disturbed maturation neurotransmission, leading to denervation. Indeed, NMJ disruption has been reported several different muscles; however, systematic comparison of...
Dominant, missense mutations in the widely and constitutively expressed GARS1 gene cause a peripheral neuropathy that usually begins adolescence principally impacts upper limbs. Caused by toxic gain-of-function encoded glycyl-tRNA synthetase (GlyRS) enzyme, neuropathology appears to be independent of canonical role GlyRS aminoacylation. Patients display progressive, life-long weakness wasting muscles hands followed feet, with frequently associated deficits sensation. When dysfunction is...
Developmental consequences of prenatal drug exposure have been reported in many human cohorts and animal studies. The long-lasting impact on the offspring-including motor cognitive impairments, cranial cardiac anomalies increased prevalence ADHD-is a socioeconomic burden worldwide. Identifying molecular changes leading to developmental could help ameliorate deficits limit impact. In this study, we used zebrafish, well-established behavioral genetic model with conserved response reward...
Ankyrin repeat and kinase domain containing 1 (ANKK1) is a member of the receptor-interacting protein serine/threonine family, known to be involved in cell proliferation, differentiation activation transcription factors. Genetic variation within ANKK1 locus suggested play role vulnerability addictions. However, mechanism action still poorly understood. It has been that may affect development and/or functioning dopaminergic pathways. To test this hypothesis, we generated CRISPR-Cas9 loss...
Abstract Dominant, missense mutations in the widely and constitutively expressed GARS1 gene cause a peripheral neuropathy that usually begins adolescence principally impacts upper limbs. Caused by toxic gain-of-function encoded glycyl-tRNA synthetase (GlyRS) enzyme, neuropathology appears to be independent of canonical role GlyRS aminoacylation. Patients display progressive, life-long weakness wasting muscles hands followed feet, with frequently associated deficits sensation. When...
Domestication is associated with both morphological and behavioural phenotypic changes that differentiate domesticated species from their wild counterparts. Some of the traits are those purposely targeted by selection process, whilst others co-occur as a result selection. The combination referred to domestication syndrome shared characteristics has given rise neural crest (NCDS) hypothesis. According this hypothesis, consequence towards animals mild underdevelopment crest. A similar...
Abstract The neuromuscular junction (NMJ) is the highly specialised peripheral synapse formed between lower motor neuron terminals and muscle fibres. Post-synaptic acetylcholine receptors (AChRs), which are found in high density membrane, bind to released into synaptic cleft of NMJ, ultimately facilitating conversion action potentials contractions. NMJs have been studied for many years as a general model formation, development function, known be early sites pathological changes diseases....
Abstract Dominantly inherited, missense mutations in the widely expressed housekeeping gene, GARS1 , cause Charcot-Marie-Tooth type 2D (CMT2D), a peripheral neuropathy characterised by muscle weakness and wasting limb extremities. Mice modelling CMT2D display early selective neuromuscular junction (NMJ) pathology, epitomised disturbed maturation neurotransmission, leading to denervation. Indeed, NMJ disruption has been reported several different muscles; however, systematic comparison of...