A5070856612- Genetics and Neurodevelopmental Disorders
- Neuroscience and Neuropharmacology Research
- Autism Spectrum Disorder Research
- Pluripotent Stem Cells Research
- HIV Research and Treatment
- Cell Image Analysis Techniques
- Receptor Mechanisms and Signaling
- Phosphodiesterase function and regulation
- Cellular transport and secretion
- Hedgehog Signaling Pathway Studies
- Estrogen and related hormone effects
- Diet and metabolism studies
- Congenital heart defects research
- RNA Research and Splicing
- Hypothalamic control of reproductive hormones
- Cellular Mechanics and Interactions
- CRISPR and Genetic Engineering
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Retinal Development and Disorders
- Menopause: Health Impacts and Treatments
- Genomics and Chromatin Dynamics
King's College London
2017-2024
University of Oxford
2023
Neuroscience Institute
2016
Shank3 is a structural protein found predominantly at the postsynaptic density. Mutations in SHANK3 gene have been associated with risk for autism spectrum disorder (ASD). We generated induced pluripotent stem cells (iPSCs) from control individuals and human donors ASD carrying microdeletions of SHANK3. In addition, we used Zinc finger nucleases to generate isogenic knockout embryonic (ES) cell lines. differentiated into either cortical or olfactory placodal neurons. show that...
Variation in the gene encoding zinc finger binding protein 804A (ZNF804A) is associated with schizophrenia and bipolar disorder. Evidence suggests that ZNF804A a regulator of transcription present nuclear extranuclear compartments. However, detailed examination distribution its neuronal functions has yet to be performed.The localization was examined neurons derived from human neural progenitor cells, induced pluripotent stem or primary rat cortical neurons. In addition, small interfering...
Abstract The zinc finger protein 804A ( ZNF804A ) and the 5′‐nucleotidase cytosolic II NT5C2 genes are amongst first schizophrenia susceptibility to have been identified in large‐scale genome‐wide association studies. has implicated regulation of neuronal morphology is required for activity‐dependent changes dendritic spines. Conversely, shown regulate 5′ adenosine monophosphate‐activated kinase activity synthesis human neural progenitor cells. Schizophrenia risk genotype associated with...
Abstract Loss of glutamatergic synapses is thought to be a key cellular pathology associated with neuropsychiatric disorders including schizophrenia (SCZ) and major depressive disorder (MDD). Genetic studies SCZ MDD using in vivo vitro systems have supported role for dysfunction excitatory the pathophysiology these disorders. Recent clinical demonstrated that estrogen, 17β-estradiol can ameliorate many symptoms experienced by patients. Yet, date, our understanding how exerted beneficial...
Abstract The cell-adhesion proteins neuroligin-3 and neuroligin-4X (NLGN3/4X) have well described roles in synapse formation. NLGN3/4X are also expressed highly during neurodevelopment. However, the role these play this period is unknown. Here we show that localized to leading edge of growth cones where it promoted neuritogenesis immature human neurons. Super-resolution microscopy revealed clustering induced cone enlargement influenced actin filament organization. Critically, morphological...
Abstract Background Deletions in NRXN1 are strongly associated with neurodevelopmental and psychiatric conditions. While exonic deletions well-studied, intragenic deletions, particularly intron 5, less understood generally consider benign. Recent studies show impact isoform diversity during neurodevelopment, affecting neurogenesis neuronal function. However, whether expression neurodevelopment remains underexplored. Methods We used hiPSCs from typically developing individuals (control) those...
Abstract The cell-adhesion proteins neuroligin-3 and neuroligin-4X (NLGN3/4X) have well described roles in synapse formation. NLGN3/4X are also expressed highly during neurodevelopment. However, the role these play this period is unknown. Here we show that localized to leading edge of growth cones where itpromoted neuritogenesis immature human neurons. Super-resolution microscopyrevealed clustering induced cone enlargement influenced actin filament organization. Critically, morphological...
ABSTRACT The zinc finger protein 804A ( ZNF804A ) and the 5′-nucleotidase cytosolic II NT5C2 genes have been identified as robust susceptibility in large-scale genome-wide association studies of schizophrenia. proteins are highly expressed developing mature cortical neurons. has implicated regulating development neuronal morphology; it localises to synapses is required for activity-dependent modifications dendritic spines. shown regulate 5′ adenosine monophosphate-activated kinase activity...
Abstract Loss of glutamatergic synapses is thought to be a key cellular pathology associated with neuropsychiatric disorders including schizophrenia (SCZ) and major depressive disorder (MDD). Genetic studies SCZ MDD using in vivo vitro systems have supported role for dysfunction excitatory the pathophysiology these disorders. Recent clinical demonstrated that estrogen, 17β-estradiol can ameliorate many symptoms experienced by patients. Yet, date, our understanding how exerted beneficial...