Charlene Supnet
- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
- Neuroscience and Neuropharmacology Research
- Functional Brain Connectivity Studies
- Cholinesterase and Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Prion Diseases and Protein Misfolding
- Tryptophan and brain disorders
- Nicotinic Acetylcholine Receptors Study
- Intensive Care Unit Cognitive Disorders
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Bioinformatics and Genomic Networks
- Health, Environment, Cognitive Aging
- Protein Structure and Dynamics
- Ubiquitin and proteasome pathways
- Neurosurgical Procedures and Complications
- Intraoperative Neuromonitoring and Anesthetic Effects
- Sleep and Work-Related Fatigue
- Problem Solving Skills Development
- Amyotrophic Lateral Sclerosis Research
- Healthcare Technology and Patient Monitoring
- Nuclear Receptors and Signaling
- Music Therapy and Health
- Advanced Neuroimaging Techniques and Applications
Washington University in St. Louis
2023-2025
Alzheimer’s Disease Neuroimaging Initiative
2023
The University of Texas Southwestern Medical Center
2010-2021
Southwestern Medical Center
2010-2016
E Ink (South Korea)
2016
Nanotherapeutics (United States)
2012-2015
Peter the Great St. Petersburg Polytechnic University
2011
University of Prince Edward Island
2006-2010
Amyloid beta and tau pathology are the hallmarks of sporadic Alzheimer's disease (AD) autosomal dominant AD (ADAD). However, Lewy body (LBP) is found in ≈ 50% ADAD brains.
Abstract We present a comprehensive global analysis of genetic variants associated with autosomal-dominant Alzheimer's disease (ADAD). A total 550 in the APP, PSEN1, and PSEN2 genes were identified, which 279 classified as pathogenic or likely based on ACMG-AMP criteria, utilizing data from Dominantly Inherited Alzheimer Network (DIAN), literature, public databases. Symptomatic age at onset (AAO) was estimated for 227 these variants, allowing detailed characterization their frequency,...
Abstract Background Huntington's disease (HD) is a progressive neurodegenerative disorder caused by polyglutamine expansion in the Huntingtin protein which results selective degeneration of striatal medium spiny neurons (MSNs). Our group has previously demonstrated that calcium (Ca 2+ ) signaling abnormal MSNs from yeast artificial chromosome transgenic mouse model HD (YAC128). Moreover, we deranged intracellular Ca sensitizes YAC128 to glutamate-induced excitotoxicity when compared wild...
Dysregulated endoplasmic reticulum (ER) calcium (Ca2+) signaling is reported to play an important role in Alzheimer disease (AD) pathogenesis. The of ER Ca2+ release channels, the ryanodine receptors (RyanRs), has been extensively studied AD models and RyanR expression activity are upregulated brains various familial (FAD) models. objective this study was utilize a genetic approach evaluate importance type 3 (RyanR3) context pathology.
Mutations in presenilins 1 and 2 (PS1 PS2) are responsible for approximately 40% of all early onset familial Alzheimer's disease (FAD) monogenic cases. Presenilins (PSs) function as the catalytic subunit γ-secretase support cleavage amyloid-β protein precursor (AβPP). We previousl y discovered that PSs also passive endoplasmic reticulum (ER) calcium (Ca2+) leak channels most FAD mutations affected their ER Ca2+ function. To further validate relevance our findings to human disease, we here...
Missense mutations in presenilin 1 (PS1) and 2 (PS2) proteins are a major cause of familial Alzheimer disease. Presenilins with nine transmembrane (TM) domains that function as catalytic subunits the γ-secretase complex responsible for cleavage amyloid precursor protein other type I proteins. The water-filled cavity within is necessary to mediate intramembrane proteolysis reaction. Consistent this idea, cysteine-scanning mutagenesis NMR studies revealed number water-accessible residues TM7...
Amyloidosis, including cerebral amyloid angiopathy, and markers of small vessel disease (SVD) vary across dominantly inherited Alzheimer's (DIAD) presenilin-1 (PSEN1) mutation carriers. We investigated how position relative to codon 200 (pre-/postcodon 200) influences these pathologic features dementia at different stages. Individuals from families with known PSEN1 mutations (n = 393) underwent neuroimaging clinical assessments. cross-sectionally evaluated regional Pittsburgh compound...
The cellular pathology of Alzheimer's disease is progressive and protracted leading eventually to considerable neuronal death. underlying mechanisms the are complex but changes in control intracellular Ca2+ believed contribute demise neurons. In this study, we investigated functional consequences an increase expression type 3 isoform ryanodine receptor (RyR3). We found that although cortical neurons from TgCRND8 mice secreted significantly more amyloid beta protein showed increased RyR3...
This study explored the role of ubiquitin-proteasome system (UPS) in dominantly inherited Alzheimer's disease (DIAD) by examining changes cerebrospinal fluid (CSF) levels UPS proteins along with progression, AD imaging biomarkers (PiB PET, tau PET), neurodegeneration measures (MRI, FDG and Clinical Dementia Rating
Alzheimer’s disease (AD) is the most common age-related neurodegenerative disorder affecting millions of people. Synaptic dysfunction and physical loss synapses are responsible for memory impairments in AD. The molecular mechanisms synaptic AD not understood. main risk factor sporadic (SAD) advanced age. Missense mutations presenilin (PS) proteins amyloid precursor protein (APP) majority rare familial (FAD) cases. Increased production A 42 amyloidogenic peptide occurs SAD FAD. Synaptotoxic...
OBJECTIVE: We hypothesized that nurses would benefit from the fellowship model traditionally used to engage physicians in clinical research. The Neuroscience Nursing Research Center (NNRC) program was created as a for engaging at all levels of practice become active BACKGROUND: NNRC established 2013 novel approach promote bedside primary investigators METHODS: developed 4 pathways nursing research success: fellowship, student-nurse internship, didactic training, and consultation. RESULTS:...