A5027130596- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Cannabis and Cannabinoid Research
- Neurological diseases and metabolism
- Alzheimer's disease research and treatments
- Polyamine Metabolism and Applications
- Prion Diseases and Protein Misfolding
- Neurological Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Breast Cancer Treatment Studies
- RNA Research and Splicing
- Neurogenesis and neuroplasticity mechanisms
- Neurological Disorders and Treatments
- Plant and fungal interactions
- Digital Humanities and Scholarship
- Salivary Gland Tumors Diagnosis and Treatment
- Immunodeficiency and Autoimmune Disorders
- Genetics and Neurodevelopmental Disorders
- Coccidia and coccidiosis research
- GABA and Rice Research
- S100 Proteins and Annexins
- Dementia and Cognitive Impairment Research
- Breast Lesions and Carcinomas
- Systemic Sclerosis and Related Diseases
- Immunotoxicology and immune responses
University of Oxford
2016-2024
Massachusetts General Hospital
2008-2024
Southern Cross University
2024
Harvard University
2022-2024
John Radcliffe Hospital
2020
King's College London
2015-2017
UK Dementia Research Institute
2017
University of California San Diego Medical Center
2016
Kings Health Partners
2015
The University of Texas Rio Grande Valley
2015
Annexin A11 mutations, implicated in ALS, prevent binding to calcyclin and induce the formation of cytoplasmic inclusions.
Abstract Nuclear clearance and cytoplasmic accumulations of the RNA-binding protein TDP-43 are pathological hallmarks in almost all patients with amyotrophic lateral sclerosis (ALS) up to 50% frontotemporal dementia (FTD) Alzheimer’s disease. In disease, pathology is predominantly observed limbic system correlates cognitive decline reduced hippocampal volume. Disruption nuclear function leads abnormal RNA splicing incorporation erroneous cryptic exons numerous transcripts including...
Abstract Betz cells, named in honor of Volodymyr (1834–1894), who described them as “giant pyramids” the primary motor cortex primates and other mammalian species, are layer V extratelencephalic projection (ETP) neurons that directly innervate α‐motoneurons brainstem spinal cord. Despite their large volume circumferential dendritic architecture, to date, no single molecular criterion has been established unequivocally distinguishes adult cells from ETP neurons. In primates, transcriptional...
Abstract Cannabis sativa L. glandular trichomes synthesize large amounts of secondary metabolites, predominantly cannabinoids and terpenoids. The associated demand for carbon energy makes strong sink tissues with indications that their metabolism is coupled to the availability photoassimilates. Many metabolites show diurnal patterns flux, but it unknown whether terpenoids are regulated by time day. We quantified cannabinoids, terpenoids, trichome proteome over a 12 h light period in flowers...
Cytoplasmic TDP-43 inclusions are the pathological hallmark of amyotrophic lateral sclerosis (ALS) and tau-negative frontotemporal lobar dementia (FTLD). The G4C2 repeat mutation in C9ORF72 is most common cause ALS FTLD which, addition to inclusions, five different di-peptide (DPR) proteins have been identified. Di-peptide translated a non-canonical fashion from sense antisense transcripts (GP, GA, GR, PA, PR). DPR abundant cerebellum, as well frontal temporal lobes patients some neurotoxic...
Chromosome 10q24.32‐q24.33 is one of the most robustly supported risk loci to emerge from genome‐wide association studies (GWAS) schizophrenia. However, extensive linkage disequilibrium makes it difficult distinguish actual susceptibility gene(s) at locus, limiting its value for improving biological understanding condition. In absence coding changes that can account association, likely conferred by altered regulation or more genes in region. We, therefore, used highly sensitive measures...
Abstract BACKGROUND: Although many prognostic factors are associated with differences in cancer lethality, it may not be obvious whether a factor truly makes an independent contribution to lethality or simply is correlated tumor size. There currently no method for integrating size, lymph node status, and other information from patient into single risk of death estimate. METHODS: The SizeOnly equation, which captures the relation between size death, possible determine lethally merely (...
Abstract Degeneration of the primary motor cortex is a defining feature amyotrophic lateral sclerosis (ALS), which associated with accumulation microscopic protein aggregates in neurons and glia. However, little known about quantitative burden pattern proteinopathies across ALS genotypes. We combined digital image analysis multi-level generalized linear modelling an independent cohort 82 cases to explore relationship between genotype, total proteinopathy load cellular vulnerability aggregate...
Mutations in the FUS gene have been shown to be a rare cause of amyotrophic lateral sclerosis (ALS-FUS) and whilst well documented clinically genetically there relatively few neuropathological studies.Recent work suggested possible correlation between pathological features such as frequency basophilic inclusions neurons rate clinical decline, other studies revealed discrepancy upper motor neuron detected associated pathology. The purpose this study was describe with more recently discovered...
Historically, control brain tissue was classified as such mainly by clinical history, and underwent limited neuropathological analysis. Significant progress has been made in recent years with the collection of more extensive information specific classifications neurodegenerative disease, aided advances histological processing increasingly sensitive detection methods. We hypothesised that this may have resulted certain pathologies previously going unidentified, due to insufficient block...
Although mutations in dozens of genes have been implicated familial forms amyotrophic lateral sclerosis (fALS) and frontotemporal degeneration (fFTD), most cases these conditions are sporadic (sALS sFTD), with no family history, their etiology remains obscure. We tested the hypothesis that somatic mosaic mutations, present some but not all cells, might contribute cases, by performing ultra-deep, targeted sequencing 88 associated neurodegenerative diseases postmortem brain spinal cord samples...
Cannabis sativa flower glandular trichomes (GTs) are the main site of cannabinoid synthesis. Phytohormones, such as jasmonic acid (JAS) and salicylic (SAL) have been shown to increase content in flowers, but how this is regulated remains unknown. This study aimed understand mechanisms action phytohormones on mature GT disc cells using an vitro assay. Live were isolated from a high-tetrahydrocannabinol cultivar incubated basal media plates supplemented with either kinetin (KIN), JAS, SAL,...
A 10-MONTH-OLD previously healthy girl presented with a 3-month history of an abdominal mass. This mass was detected at 6-month checkup by primary care physician. The results liver and kidney function tests as well hepatic panel were all negative. No further workup done. infant brought in because progressive increase the size She otherwise asymptomatic gaining weight appropriately. mother vaguely recalled questions possibly enlarged neonatal period. Examination revealed healthy-looking,...
Anti-N-Methyl-D-Aspartate Receptor (NMDAR) Encephalitis is a novel disease discovered within the past 10 years. Antibodies directed at NMDAR cause patient to develop characteristic syndrome of neuropsychiatric symptoms. Patients go on autonomic dysregulation and often have prolonged hospitalizations intensive care unit stays. There little literature in emergency medicine community regarding this process, so we report case encountered our department help raise awareness process.
We recently suggested that type-2 diabetes may accelerate the development of Alzheimer's disease (AD) by promoting brain deposition amylin, a pancreatic hormone co-secreted with insulin has amyloidogenic properties similar to β-amyloid (Aβ). Here, we tested samples from non-diabetic patients suffering early-onset (familial) AD and late-onset determine how amylin level is related AD-type plaque age patients. Amylin was measured in supernatant fraction temporal cortex N=61 individuals,...
In his 1959 Rede Lecture, "The Two Cultures and the Scientific Revolution," C. P. Snow warned of a gulf that had opened between literary intellectuals natural scientists, across which existed mutual incomprehension threatened to undermine university's ability solve world's most pressing problems.Reflecting on experience as both novelist research scientist, appealed for greater understanding what he saw two distinct cultures, yet also asserted importance sciences over literature securing...