A5019225720- Genetic Neurodegenerative Diseases
- Neurological disorders and treatments
- Genetics and Neurodevelopmental Disorders
- Hereditary Neurological Disorders
- Botulinum Toxin and Related Neurological Disorders
- Neurological diseases and metabolism
- Parkinson's Disease Mechanisms and Treatments
- Glycogen Storage Diseases and Myoclonus
- Cancer Genomics and Diagnostics
- RNA Research and Splicing
- Sperm and Testicular Function
- Genomics and Rare Diseases
- DNA Repair Mechanisms
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Reproductive Biology and Fertility
- Ion channel regulation and function
- Cancer-related molecular mechanisms research
- Neurogenetic and Muscular Disorders Research
- CRISPR and Genetic Engineering
- Neuroscience and Neuropharmacology Research
- Mitochondrial Function and Pathology
- Advanced Fluorescence Microscopy Techniques
- Noise Effects and Management
- Epigenetics and DNA Methylation
University of Tennessee Health Science Center
2016-2025
First Affiliated Hospital of Shantou University Medical College
2014-2025
Shantou University
2009-2025
Huazhong University of Science and Technology
2022-2023
Weatherford College
2021
Emory University
2016
Vanderbilt University
2016
Shanghai Institute of Materia Medica
2007-2016
Chinese Academy of Sciences
2007-2016
University of Belgrade
2014
Primary dystonia is usually of adult onset, can be familial, and frequently involves the cervical musculature. Our goal was to identify causal mutation in a family with primary dystonia.Linkage haplotype analyses were combined solution-based whole-exome capture massively parallel sequencing large Caucasian pedigree cosegregating mutation. High-throughput screening Sanger completed 308 Caucasians familial or sporadic onset matching controls for sequence variants this mutant gene.Exome led...
Alzheimer’s disease (AD), a progressive neurodegenerative disorder characterized by memory loss and cognitive decline, is major cause of death disability among the older population. Despite decades scientific research, underlying etiological triggers are unknown. Recent studies suggested that gut microbiota can influence AD progression; however, potential mechanisms linking with pathogenesis remain obscure. In present study, we provided mechanistic link between dysbiotic neuroinflammation...
THAP1 encodes a transcription factor (THAP1) that harbors an atypical zinc finger domain and regulates cell proliferation. An exon 2 insertion/deletion frameshift mutation in is responsible for DYT6 dystonia Amish-Mennonites. Subsequent screening efforts familial, mainly early-onset, primary identified additional sequence variants non-Amish subjects.To examine large cohort of subjects with adult-onset THAP1.With high-resolution melting, all 3 exons were screened 1,114 dystonia, 96...
The vast majority of patients with primary dystonia are adults focal or segmental distribution involuntary movements. Although ∼10% probands have at least one first- second-degree relative to dystonia, large families suited for linkage analysis exceptional. After excluding mutations in known genes (TOR1A, THAP1 and CIZ1), whole-exome sequencing identified a GNAL missense mutation (c.682G>T, p.V228F) an African-American pedigree clinical phenotypes that include cervical, laryngeal...
Familial cortical myoclonic tremor with epilepsy is an autosomal dominant neurodegenerative disease, characterized by and epileptic seizures. Although four subtypes (types 1–4) mapped on different chromosomes (8q24, 2p11.1-q12.2, 5p15.31-p15.1 3q26.32-3q28) have been reported, the causative gene has not yet identified. Here, we report genetic study in a cohort of 20 Chinese pedigrees familial epilepsy. Linkage haplotype analysis 11 revealed maximum two-point logarithm odds (LOD) scores from...
<h3>Objective:</h3> To characterize the clinical and genetic features of cervical dystonia (CD). <h3>Methods:</h3> Participants enrolled in Dystonia Coalition biorepository (NCT01373424) with initial manifestation as CD were included this study (n = 1,000). Data intake demographics, family history, Global Rating Scale. screened for sequence variants (SVs) <i>GNAL</i>, <i>THAP1</i>, Exon 5 <i>TOR1A</i>. <h3>Results:</h3> The majority participants Caucasian (95%) female (75%). mean age at...
UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA by RNA polymerase 1, whereas UBTF2 mRNA 2. Herein, we describe 4 patients with very similar patterns of neuroregression due to recurrent de novo mutations in (GRCh37/hg19, NC_000017.10: g.42290219C > T, NM_014233.3: c.628G A) resulting the same amino acid change both and (p.Glu210Lys [p.E210K]). Disease onset our cohort was at 2.5 3 years characterized slow progression global motor, cognitive behavioral...
Fatty acid biosynthesis (FAS) is a vital process in cells. acids are essential for cell assembly and cellular metabolism. Abnormal FAS directly correlates with growth delay human diseases, such as metabolic syndromes various cancers. The system utilizes an acyl carrier protein (ACP) transporter to stabilize shuttle the growing fatty chain throughout enzymatic modules stepwise catalysis. Studying interactions between ACP is, therefore, critical understanding biological function of system....
Blood-brain barrier (BBB) is a highly complex physical determining what substances are allowed to enter the brain. Support vector machine (SVM) kernel-based learning method that widely used in QSAR study. For successful SVM model, kernel parameters for and feature subset selection most important factors affecting prediction accuracy. In studies, they treated as two independent problems, but it has been proven could affect each other. We designed implemented genetic algorithm (GA) optimize...
Abstract Malonyl‐CoA: acyl carrier protein transacylase (MCAT) is a critical enzyme responsible for the transfer of malonyl moiety to holo‐acyl (ACP) forming malonyl‐ACP intermediates in initiation step type II fatty acid synthesis (FAS II) bacteria. MCAT has been considered as an attractive drug target discovery antibacterial agents. In this study, crystal structure from Helicobacter pylori ( Hp ) at 2.5 Å resolution reported, and interaction with ACP extensively investigated by using...
PRRT2 loss-of-function mutations have been associated with familial paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions and choreoathetosis, benign seizures. Dystonia is the foremost involuntary movement disorder manifest by patients PKD. Using a lacZ reporter quantitative reverse-transcriptase PCR, we mapped temporal spatial distribution of Prrt2 in mouse brain showed highest levels expression cerebellar cortex. Further investigation into localization within cortex revealed that...