A5045932383- Ion channel regulation and function
- Neuroscience and Neuropharmacology Research
- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Pain Mechanisms and Treatments
- Cancer Treatment and Pharmacology
- CRISPR and Genetic Engineering
- Adenosine and Purinergic Signaling
- Neuroinflammation and Neurodegeneration Mechanisms
- Neurogenesis and neuroplasticity mechanisms
- Neuroscience and Neural Engineering
- Heat shock proteins research
- Advanced Memory and Neural Computing
- Attention Deficit Hyperactivity Disorder
- Enzyme Structure and Function
- Sleep and Wakefulness Research
- Cancer, Hypoxia, and Metabolism
- Virus-based gene therapy research
- Congenital Diaphragmatic Hernia Studies
- Plant-based Medicinal Research
- Fungal and yeast genetics research
- Peripheral Neuropathies and Disorders
- Cancer and biochemical research
- 3D Printing in Biomedical Research
- RNA and protein synthesis mechanisms
Purdue University West Lafayette
2018-2024
Kansas State University
2017
Scn2a encodes the voltage-gated sodium channel Na
Social behavior is critical for survival and adaptation, which profoundly disrupted in autism spectrum disorders (ASD). withdrawal due to information overload was often described ASD, it suspected that increased basal noise, i.e., excessive background neuronal activities the brain could be a disease mechanism. However, experimental test of this hypothesis limited. Loss-of-function mutations (deficiency) SCN2A , encodes voltage-gated sodium channel Na V 1.2, have been revealed as leading...
With the wide adoption of genomic sequencing in children having seizures, an increasing number SCN2A genetic variants have been revealed as causes epilepsy. Voltage-gated sodium channel Nav1.2, encoded by gene , is predominantly expressed pyramidal excitatory neurons and supports action potential (AP) firing. One recurrent variant L1342P, which was identified multiple patients with epileptic encephalopathy intractable seizures. However, mechanism underlying L1342P-mediated seizures...
Autism spectrum disorder (ASD) affects ~2% of the population in US, and monogenic forms ASD often result most severe manifestation disorder. Recently, SCN2A has emerged as a leading gene associated with ASD, which abnormal sleep pattern is common comorbidity. encodes voltage-gated sodium channel NaV1.2. Predominantly expressed brain, NaV1.2 mediates action potential firing neurons. Clinical studies found that large portion children deficiency have disorders, severely impact quality life...
Abstract Autism spectrum disorder (ASD) is a major neurodevelopmental affecting 1 in 36 children the United States. While neurons have been focus to understand ASD, an altered neuro-immune response brain may be closely associated with and interaction could play role disease progression. As resident immune cells of brain, microglia regulate development homeostasis via core functions including phagocytosis synapses. ASD has traditionally considered polygenic disorder, recent large-scale human...
Abstract Large‐scale genetic studies revealed SCN2A as one of the most frequently mutated genes in patients with neurodevelopmental disorders. encodes for voltage‐gated sodium channel isoform 1.2 (Na v 1.2) expressed neurons central nervous system. Homozygous knockout (null) Scn2a mice is perinatal lethal, whereas heterozygous ( +/− ) results mild behavior abnormalities. The Na expression level reported to be around 50–60% wild‐type (WT) level, which indicates that a close 50% reduction may...
Saccharomyces cerevisiae continues to serve as a powerful model system for both basic biological research and industrial application. The development of genome-wide collections individually manipulated strains (libraries) has allowed high-throughput genetic screens an emerging global view this single-celled Eukaryote. success strain construction relied on the innate ability budding yeast accept foreign DNA perform homologous recombination, allowing efficient plasmid (in vivo) integration...
Chemotherapy-induced peripheral neuropathy (CIPN) is a prevalent, painful side effect which arises due to number of chemotherapy agents. CIPN can have prolonged on quality life. Chemotherapy treatment often reduced or stopped altogether because the severe pain. Currently, there are no FDA-approved treatments for partially its complex pathogenesis in multiple pathways involving variety channels, specifically, voltage-gated ion channels. One aspect neuropathic pain vitro hyperexcitability...
Abstract With the wide adoption of whole-exome sequencing in children having seizures, an increasing number SCN2A variants has been revealed as possible genetic causes epilepsy. Voltage-gated sodium channel Nav1.2, encoded by gene , is strongly expressed pyramidal excitatory neurons and supports action potential firing. One recurrent variant L1342P, which was identified multiple patients with early-onset encephalopathy intractable seizures. Our biophysical analysis computational modeling...
Abstract Scn2a encodes voltage-gated sodium channel Na V 1.2, which mediates neuronal firing. The current paradigm suggests that 1.2 gain-of-function variants enhance excitability resulting in epilepsy, whereas deficiency impairs contributing to autism. In this paradigm, however, why about a third of patients with still develop seizures remains mystery. Here we challenge the conventional wisdom, reporting is increased severe deficiency. Using unique gene-trap knockout mouse model , found...
Abstract Chemotherapy-induced peripheral neuropathy (CIPN) is a prevalent, painful side effect which arises due to number of chemotherapy agents. CIPN can have prolonged on quality life. Chemotherapy treatment often reduced or stopped altogether because the severe pain. Currently, there are no FDA-approved treatments for partially its complex pathogenesis in multiple pathways involving variety channels, specifically, voltage-gated ion channels. A surrogate neuropathic pain an vitro setting...
ABSTRACT Recent large-scale genomic studies have revealed SCN2A as one of the most frequently mutated gene in patients with neurodevelopmental disorders including autism spectrum disorder and intellectual disability. encodes for voltage-gated sodium channel isoform 1.2 (Nav1.2), which is mainly expressed central nervous system responsible propagation neuronal action potentials. Homozygous knockout (null) Scn2a perinatal lethal, whereas heterozygous results mild behavior abnormalities. To...
Respiratory syncytial virus (RSV) is a paramyxovirus that infects all infants by age 3 and causes extensive morbidity, hospitalization, global mortality in young infants. RSV F type I fusion glycoprotein essential for viral entry into cells, exists as trimer of heterodimers. Furin cleavage produces F1 F2 subunits exposes the hydrophobic peptide which buried at base cavity formed prefusion trimer. An unknown triggering event major conformational rearrangement producing 10 Å heptad repeat (HR)...
Sickle cell anemia, cystic fibrosis, and Alzheimer's disease are each associated with misfolded proteins. Most proteins fold into their functional state spontaneously unaided, but they can become trapped in states harmful to human health. Chaperones that assist such folding or refolding successfully. The Blue Valley CAPS 2012–13 SMART Team (Students Modeling A Research Topic) modeled the asymmetric GroEL‐GroES‐(ADP) 7 chaperonin complex, (1AON.pdb), using JMol 3D printer. complex is shaped...