A5016193818- Genetics and Neurodevelopmental Disorders
- Optical Coatings and Gratings
- Photonic and Optical Devices
- Pancreatic function and diabetes
- Photonic Crystals and Applications
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Adenosine and Purinergic Signaling
- Epilepsy research and treatment
- Neuroscience and Neuropharmacology Research
- Cellular transport and secretion
- ATP Synthase and ATPases Research
- Bipolar Disorder and Treatment
- Near-Field Optical Microscopy
- Ion channel regulation and function
- Distributed and Parallel Computing Systems
- Signaling Pathways in Disease
- Cardiac electrophysiology and arrhythmias
- RNA and protein synthesis mechanisms
- Phytase and its Applications
- Biotin and Related Studies
- RNA regulation and disease
- Biochemical Acid Research Studies
- Conducting polymers and applications
- Genetic Associations and Epidemiology
University of Michigan
2015-2024
John Wiley & Sons (United States)
2020-2024
Hudson Institute
2020-2024
Hunan University of Technology
2024
Korea National Institute of Health
2024
Wayne State University
2013-2020
University of Michigan–Dearborn
2015
Heilongjiang Academy of Forestry
2014
Objective SCN8A encephalopathy is a developmental and epileptic (DEE) caused by de novo gain‐of‐function mutations of sodium channel Na v 1.6 that result in neuronal hyperactivity. Affected individuals exhibit early onset drug‐resistant seizures, delay, cognitive impairment. This study was carried out to determine whether reducing the abundance Scn8a transcript with an antisense oligonucleotide (ASO) would delay seizure prolong survival mouse model encephalopathy. Methods ASO treatment...
Cardiolipin (CL) is a mitochondrial phospholipid with very specific and functionally important fatty acid composition, generated by tafazzin. However, in vitro tafazzin catalyzes promiscuous acyl exchange that acquires specificity only response to perturbations of the physical state lipids. To identify process imposes onto CL remodeling vivo, we analyzed series deletions knockdowns Saccharomyces cerevisiae Drosophila melanogaster, including carriers, membrane homeostasis proteins,...
Cardiolipin (CL) is the signature phospholipid of mitochondrial membranes. Although it has long been known that CL plays an important role in bioenergetics, recent evidence yeast model indicates also essential for intermediary metabolism. To gain insight into function energy metabolism mammalian cells, here we analyzed metabolic flux [U-13C]glucose a mouse C2C12 myoblast cell line, TAZ-KO, which CL-deficient because CRISPR/Cas9-mediated knockout CL-remodeling enzyme tafazzin (TAZ). TAZ-KO...
Abstract Polyvinyl alcohol (PVA) is well-known for its excellent mechanical properties and eco-friendliness in food packaging. Recently, PVA has gained significant attention research due to potential as antibacterial substrates. However, because of high hydrophilicity, practical application pure film been limited by low water resistance rapid bacterial growth humid conditions. Diverse effective strategies have developed decrease hydrophilicity endow films with properties. This review...
Myo-inositol, the precursor of all inositol compounds, is essential for viability eukaryotes. Identifying factors that regulate homeostasis obvious importance to understanding cell function and pathologies underlying neurological metabolic resulting from perturbation metabolism. The current study identifies Mck1, a GSK3 homolog, as novel positive regulator de novo synthesis in yeast. Mck1 was required normal activity myo-inositol phosphate synthase (MIPS), which catalyzes rate-limiting step...
Abstract The widely used mood stabilizer valproate (VPA) causes perturbation of energy metabolism, which is implicated in both the therapeutic mechanism action drug as well toxicity. To gain insight into these mechanisms, we determined effects VPA on metabolism yeast. treatment increased levels glycolytic intermediates, expression glycolysis genes, and ethanol production. Increased was likely a response to mitochondrial function, reflected decreased membrane potential oxygen consumption....
Abstract Objective SCN8A encephalopathy is a developmental epileptic typically caused by de novo gain‐of‐function mutations in Na v 1.6. Severely affected individuals exhibit refractory seizures, delay, cognitive disabilities, movement disorders, and elevated risk of sudden death. Patients with the identical variant can differ clinical course, suggesting role for modifier genes determining disease severity. The identification genetic modifiers contributes to understanding pathogenesis...
Objective Developmental and epileptic encephalopathies (DEEs) can result from dominant, gain of function variants neuronal ion channels. More than 450 de novo missense the sodium channel gene SCN8A have been identified in individuals with DEE. Methods We studied a mouse model carrying patient Scn8a variant p.Asn1768Asp. An AAV‐PHP.eB virus an allele‐specific single guide RNA (sgRNA) was administered by intracerebroventricular injection. Cas9 provided inherited transgene. Results...
SCN8A epileptic encephalopathy is caused predominantly by de novo gain-of-function mutations in the voltage-gated sodium channel Na
De novo mutations of the voltage-gated sodium channel gene SCN8A cause developmental and epileptic encephalopathy (DEE). Most pathogenic variants result in gain-of-function changes activity Na
Gain-of-function mutations in SCN8A cause developmental and epileptic encephalopathy (DEE), a disorder characterized by early-onset refractory seizures, deficits motor intellectual functions, increased risk of sudden unexpected death epilepsy. Altered activity neurons the corticohippocampal circuit has been reported mouse models DEE. We examined effect chronic seizures on gene expression hippocampus single-nucleus RNA sequencing mice expressing patient mutation SCN8A-p.Asn1768Asp (N1768D)....
N-terminal acetyltransferase (Nats) complex is responsible for protein acetylation (Nα-acetylation), which one of the most common covalent modifications eukaryotic proteins. Although genome-wide investigation and characterization Nat catalytic subunits (CS) auxiliary (AS) have been conducted in yeast humans they remain unexplored plants. Here we report on identification eleven genes encoding putative CS polypeptides, five AS polypeptides Populus. We document that expansion occurs as...
We have demonstrated the significant impacts of grating tapered sidewall profile on subwavelength wideband reflector characteristics when taking into account practical fabrication process. Two different classes reflectors, referred to as zero-contrast gratings and high-contrast gratings, are numerically investigated in detail distinct differences due a observed. Our works reveal that this plays critical role determining reflection bandwidth, average reflectance, band edge. The results could...
We have numerically demonstrated the significant impacts on resonance mode characteristics of subwavelength grating structures due to tapered sidewall profile and high aspect ratio, which is normally obtained practical CMOS-compatible fabrication etching processes. Our simulation results revealed that with ratio plays important roles behavior photonic devices. The coupling mechanism between guided cavity also emphasized. numerical studies can be utilized for a series integrated devices...
Abstract De novo mutations of neuronal sodium channels are responsible for ~5% developmental and epileptic encephalopathies, but the role somatic mutation these genes in adult-onset epilepsy is not known. We evaluated post-zygotic by adult activation a conditional allele pathogenic variant Scn8aR1872W mouse. After CAG-Cre-ER tamoxifen, mutant transcript was expressed throughout brain at level proportional to tamoxifen dose. The threshold generation spontaneous seizures reached when...