A5012208193- Lysosomal Storage Disorders Research
- Mast cells and histamine
- Microfluidic and Capillary Electrophoresis Applications
- Trypanosoma species research and implications
- Epilepsy research and treatment
- Mass Spectrometry Techniques and Applications
- Genomic variations and chromosomal abnormalities
- Neuroscience and Neuropharmacology Research
- Enzyme Production and Characterization
- Carbohydrate Chemistry and Synthesis
- Endoplasmic Reticulum Stress and Disease
- Cellular transport and secretion
- Genomics and Rare Diseases
- Neurological disorders and treatments
- Studies on Chitinases and Chitosanases
- Hemoglobin structure and function
- RNA regulation and disease
- Glycosylation and Glycoproteins Research
- Systemic Sclerosis and Related Diseases
- Cell Adhesion Molecules Research
Baylor College of Medicine
2025
National Heart Lung and Blood Institute
2023
National Institutes of Health
2020-2023
National Human Genome Research Institute
2022-2023
University of Maryland, College Park
2018-2023
Mid Atlantic Epilepsy and Sleep Center
2018
Highlights•ITSN1 haploinsufficiency confers a ∼10-fold increased risk of Parkinson's disease (PD)•Effect size surpasses other well-established loci, including GBA1 and LRRK2•In vivo in vitro studies suggest an interaction between ITSN1 α-synuclein•Findings implicate synaptic vesicle trafficking dysfunction PD pathogenesisSummaryDespite its significant heritability, the genetic basis (PD) remains incompletely understood. Here, analyzing whole-genome sequence data from 3,809 cases 247,101...
Exopolysaccharides consisting of partially de-N-acetylated poly-β-d-(1→6)-N-acetyl-glucosamine (dPNAG) are key structural components the biofilm extracellular polymeric substance both Gram-positive and Gram-negative human pathogens. De-N-acetylation is required for proper assembly function dPNAG in development suggesting that different patterns deacetylation may be preferentially recognized by proteins interact with dPNAG, such as Dispersin B (DspB). The enzymatic degradation Aggregatibacter...
Abstract Background HPS-1 is a genetic type of Hermansky-Pudlak syndrome (HPS) with highly penetrant pulmonary fibrosis (HPSPF), restrictive lung disease that similar to idiopathic (IPF). Hps1 ep/ep (pale ear) naturally occurring mouse model exhibits high sensitivity bleomycin-induced (PF). Traditional methods administering bleomycin as an intratracheal (IT) route induce PF in this often lead severe acute injury and mortality rates, complicating studies focusing on pathobiological mechanisms...
Kinetic isotope effect (KIE) measurements are a powerful tool to interrogate the microscopic steps in enzyme catalyzed reactions and can provide detailed information about transition state structures. However, application of KIE study enzymatic is not widely applied due tedious complex analytical workflows required measure KIEs with sufficient precession. Here, we report method for direct measurement competitive using whole molecule matrix assisted laser desorption ionization (MALDI) time...