A5028432025- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- Trypanosoma species research and implications
- Axon Guidance and Neuronal Signaling
- Neuroscience and Neuropharmacology Research
- Neurogenetic and Muscular Disorders Research
- Neurogenesis and neuroplasticity mechanisms
- Extracellular vesicles in disease
- Air Quality and Health Impacts
- Calcium signaling and nucleotide metabolism
- Cancer-related molecular mechanisms research
- Bone and Dental Protein Studies
- Lipid Membrane Structure and Behavior
- Air Quality Monitoring and Forecasting
- Mitochondrial Function and Pathology
- Connective tissue disorders research
- RNA modifications and cancer
- Angiogenesis and VEGF in Cancer
- Protease and Inhibitor Mechanisms
- Ion channel regulation and function
- Immune Cell Function and Interaction
- Neurological diseases and metabolism
- Thermal properties of materials
- Neurofibromatosis and Schwannoma Cases
- Facial Nerve Paralysis Treatment and Research
George Mason University
2022-2025
Sanford Research
2015-2023
Amicus Therapeutics (United States)
2020-2023
University of North Dakota
2011-2013
Abstract Patients with densely innervated tumors suffer increased metastasis and decreased survival as compared to those less tumors. We hypothesize that in some tumors, nerves are acquired by a tumor-induced process, called axonogenesis. Here, we use PC12 cells an vitro neuronal model, human tumor samples murine vivo models test this hypothesis. When appropriately stimulated, extend processes, neurites. show patient release vesicles, exosomes, which induce neurite outgrowth. Using cancer...
Accurate air pollution monitoring is critical to understand and mitigate the impacts of pollu-tion human health ecosystems. Due limited number geographical coverage advanced high accurate sensors monitor pollutants, many low-cost but low accuracy have been deployed. Calibrating essential leverage them for filling this gap in sensor coverage. We examine systematically how different Machine Learning (ML) models open-source packages could help improve particulate matter (PM) 2.5 data collected...
Loss of the NF1 tumor suppressor gene causes autosomal dominant condition, neurofibromatosis type 1 (NF1). Children and adults with suffer from pathologies including benign malignant tumors to cognitive deficits, seizures, growth abnormalities, peripheral neuropathies. encodes neurofibromin, a Ras-GTPase activating protein, mutations result in hyperactivated Ras signaling patients. Existing mutant mice mimic individual aspects NF1, but none comprehensively models disease. We describe...
CLN6-Batten disease, a form of neuronal ceroid lipofuscinosis is rare lysosomal storage disorder presenting with gradual declines in motor, visual, and cognitive abilities early death by 12-15 years age. We developed self-complementary adeno-associated virus serotype 9 (scAAV9) vector expressing the human CLN6 gene under control chicken β-actin (CB) hybrid promoter. Intrathecal delivery scAAV9.CB.hCLN6 into cerebrospinal fluid (CSF) lumbar spinal cord 4-year-old non-human primates was safe,...
CLN8 disease is a rare form of neuronal ceroid lipofuscinosis caused by biallelic mutations in the gene, which encodes transmembrane endoplasmic reticulum protein involved trafficking lysosomal enzymes. patients present with myoclonus, tonic-clonic seizures, and progressive declines cognitive motor function, many cases resulting premature death early life. There are currently no treatments that can cure or substantially slow progression. Using mouse model disease, we tested safety efficacy...
Stress produces differential behavioral responses through select molecular modifications to specific neurocircuitry elements. The orexin (Orx) system targets key components of this in the basolateral amygdala (BLA).
Accurate air pollution monitoring is critical to understand and mitigate the impacts of on human health ecosystems. Due limited number geographical coverage advanced, highly accurate sensors pollutants, many low-cost low-accuracy have been deployed. Calibrating essential fill gap in sensor coverage. We systematically examined how different machine learning (ML) models open-source packages could help improve accuracy particulate matter (PM) 2.5 data collected by Purple Air sensors. Eleven ML...
The Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, result from mutations in over a dozen genes. Although, adults are susceptible, the NCLs frequently classified pediatric neurodegenerative diseases due to their greater prevalence. Initial clinical presentation usually consists of either seizures or retinopathy but develops encompass both conjunction with declining motor and cognitive function. premature death absence curative therapies. Nevertheless, preclinical trials...
CLN3 disease, caused by biallelic mutations in the gene, is a rare pediatric neurodegenerative disease that has no cure or modifying treatment. The development of effective treatments been hindered lack etiological knowledge, but gene replacement emerged as promising therapeutic platform for such disorders. Here, we utilize mouse model to test safety and efficacy cerebrospinal fluid-delivered AAV9 therapy with study design optimized translatability. In this model, postnatal day one...
Pathogenic variants in PHOX2B lead to congenital central hypoventilation syndrome (CCHS), a rare disorder of the nervous system characterized by autonomic dysregulation and typically presenting neonatal period, although milder late‐onset (LO) presentation has been reported. More than 90% cases are caused polyalanine repeat mutations (PARMs) C‐terminus protein; however non‐polyalanine (NPARMs) have Most NPARMs located exon 3 result more severe clinical including Hirschsprung disease (HSCR)...
Abstract SEC24 is mainly involved in cargo sorting during COPII vesicle assembly. There are four paralogs (A–D) vertebrates, which classified into two subgroups (SEC24A/B and SEC24C/D). Pathological mutations SEC24D cause osteogenesis imperfecta with craniofacial dysplasia humans. sec24d mutant fish also recapitulate the phenotypes. Consistent skeletal phenotypes, secretion of collagen was severely defective fish, emphasizing importance secretion. However, patient‐derived fibroblasts show...
CLN6-Batten disease is a rare neurodevelopmental disorder characterized pathologically by the accumulation of lysosomal storage material, glial activation and neurodegeneration, phenotypically loss vision, motor coordination, cognitive ability, with premature death occurring in second decade life. In this study, we investigate whether sex differences mouse model impact onset progression. A number noteworthy were observed including elevated mitochondrial ATP synthase subunit C thalamus cortex...
Infants of diabetic mothers are at risk cardiomyopathy birth and myocardial infarction in adulthood, but prevention is hindered because mechanisms remain unknown. We previously showed that maternal glucolipotoxicity increases the mortality newborn rats through fuel-mediated mitochondrial dysfunction. Here we demonstrate ongoing cardiometabolic consequences by cross-fostering following echocardiography, cardiomyocyte bioenergetics, mitochondria-mediated turnover, cell death metabolic stress...
In recent years, our world has experienced significant disruptions due to the COVID-19 pandemic, and Russia's 2022 invasion of Ukraine, impacting human activities global environment. This paper explored air quality changes in Ukraine COVID-19, using on-demand with a what-you-see-is-what-you-get approach. During strict quarantine policies led 2% reduction tropospheric NO2 concentration before lockdown 4% during period. Cities like Kyiv, Donetsk, Dnipro exhibited reductions 5%, 11%, 16%,...
Neorickettsia spp. are bacterial endosymbionts of parasitic flukes (Digenea) that also have the potential to infect and cause disease (e.g., Sennetsu fever) in vertebrate hosts fluke. One largest gaps our knowledge biology is very limited information available regarding localization endosymbiont within its digenean host. In this study, we used indirect immunofluorescence microscopy visualize sp. several life cycle stages Plagiorchis elegans Individual sporocysts, cercariae, metacercariae,...
Abstract Through the process of neuronal differentiation, newly born neurons change from simple, spherical cells to complex, sprawling with many highly branched processes. One first stages in this is neurite initiation, wherein cytoskeletal modifications facilitate membrane protrusion and extension cell body. Hundreds actin modulators microtubule-binding proteins are known be involved process, but relatively little about how upstream regulators bring these complex networks together at...
CLN3-Batten disease is a rare, autosomal recessive disorder involving seizures, visual, motor and cognitive decline, premature death. The Cln3Δex7/8 mouse model recapitulates several phenotypic characteristics of the most common 1.02kb disease-associated deletion. Identification reproducible biomarker(s) to facilitate longitudinal monitoring progression provide readouts for therapeutic response has remained elusive. One factor that complicated identification suitable biomarkers in this been...
Regulation of neural stem cell (NSC) fate decisions is critical during the transition from a multicellular mammalian forebrain neuroepithelium to multilayered neocortex. Forebrain development requires coordinated vascular investment alongside NSC differentiation. Vascular endothelial growth factor A (Vegf) has proven be pleiotrophic gene whose multiple protein isoforms regulate broad range effects in neurovascular systems. To test hypothesis that Vegf (120, 164, and 188) are required for...
Batten disease is unique among lysosomal storage disorders for the early and profound manifestation in central nervous system, but little known regarding potential neuron-specific roles disease-associated proteins. We demonstrate substantial overlap protein interactomes of three transmembrane proteins (CLN3, CLN6, CLN8), that their absence leads to synaptic depletion key partners (i.e., SNAREs tethers) altered SNARE complexing vivo , demonstrating a novel shared etiology.
ABSTRACT Patients with densely innervated tumors do poorly as compared to those sparsely disease. Why some heavily recruit nerves while others not, remains unknown does the functional contribution of tumor-infiltrating cancer. Moreover, patients receive chemotherapeutic treatment, whether these drugs affect nerve recruitment has not been tested. Using a murine model ovarian cancer, we show that sensory potentiate tumor growth, decrease survival, and contribute treatment resistance....
With the advancement of Artificial Intelligence (AI) technologies and accumulation big Earth data, Deep Learning (DL) has become an important method to discover patterns understand science processes in past several years. While successful many areas, AI/DL applications are often challenging for computing devices. In recent years, Graphics Processing Unit (GPU) devices have been leveraged speed up applications, yet computational performance still poses a major barrier DL-based applications....