A5041036133- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Hereditary Neurological Disorders
- RNA Research and Splicing
- Microtubule and mitosis dynamics
- Monoclonal and Polyclonal Antibodies Research
- Alzheimer's disease research and treatments
- Skin and Cellular Biology Research
- Parathyroid Disorders and Treatments
- RNA regulation and disease
- Bacterial Genetics and Biotechnology
- Platelet Disorders and Treatments
- Glycogen Storage Diseases and Myoclonus
- Advanced Nanomaterials in Catalysis
- Nanocluster Synthesis and Applications
- Nanoparticles: synthesis and applications
- Blood groups and transfusion
- Genetic Syndromes and Imprinting
- Biomedical Research and Pathophysiology
- 14-3-3 protein interactions
- Protein Tyrosine Phosphatases
University of Vermont
2019-2020
Boston University
2016-2019
Medical College of Wisconsin
1985
Cerium oxide nanoparticles are potent antioxidants, based on their ability to either donate or receive electrons as they alternate between the +3 and +4 valence states. The dual oxidation state of ceria has made it an ideal catalyst in industrial applications, more recently, nanoceria's efficacy neutralizing biologically generated free radicals been explored biological applications. Here, we report vivo characteristics custom-synthesized cerium (CeNPs) animal model immunological free-radical...
Platelets coated with quinine- or quinidine-induced antibodies form rosettes around protein A-Sepharose beads and normal platelets about these antibodies. These reactions occurred only in the presence of sensitizing drug. also formed an anti-PIA1 antibody, but drug was not required. Formation between antibody-coated inhibited by F(ab')2 fragments goat antibody specific for Fc portion human IgG, while rosette formation directed against IgG molecule. Since binding to A is known occur via...
Abstract Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations ARSs have emerged as cause recessive, often complex neurological disease traits. Here we report an allelic series consisting seven novel and two previously reported biallelic variants valyl-tRNA synthetase ( VARS ) ten patients developmental encephalopathy microcephaly, associated early-onset epilepsy. In silico, vitro, yeast...
Charcot-Marie-Tooth disease (CMT) encompasses a set of genetically and clinically heterogeneous neuropathies characterized by length-dependent dysfunction the peripheral nervous system. Mutations in over 80 diverse genes are associated with CMT, aminoacyl-tRNA synthetases (ARS) constitute large gene family implicated disease. Despite considerable efforts to elucidate mechanistic link between ARS mutations CMT phenotype, molecular basis pathology is unknown. In this work, we investigated...
Abstract Background A 49‐year‐old male presented with late‐onset demyelinating peripheral neuropathy, cerebellar atrophy, and cognitive deficit. Nerve biopsy revealed intra‐axonal inclusions suggestive of polyglucosan bodies, raising the suspicion adult bodies disease ( OMIM 263570). Methods Results While known genes associated storage were negative, whole‐exome sequencing identified an unreported monoallelic variant, c.397G>T (p.Val133Phe), in histidyl‐ tRNA synthetase HARS ) gene. we...
Mutations in histidyl-tRNA synthetase (HARS1), an enzyme that charges transfer RNA with the amino acid histidine cytoplasm, have only been associated to date autosomal recessive Usher syndrome type III and dominant Charcot-Marie-Tooth disease 2W. Using massive parallel sequencing, we identified bi-allelic HARS1 variants a child (c.616G>T, p.Asp206Tyr c.730delG, p.Val244Cysfs*6) two sisters (c.1393A>C, p.Ile465Leu c.910_912dupTTG, p.Leu305dup), all characterized by multisystem ataxic...
Alzheimer's disease (AD) is characterized by the accumulation of neurotoxic amyloid-β (Aβ) peptides consisting 39-43 amino acids, proteolytically derived fragments protein precursor (AβPP), and hyperphosphorylated microtubule-associated tau. Inhib iting Aβ production may reduce neurodegeneration cognitive dysfunction associated with AD. We have previously used an AβPP-firefly luciferase enzyme complementation assay to conduct a high throughput screen compound library for inhibitors AβPP...