A5100734044- Parkinson's Disease Mechanisms and Treatments
- Nuclear Receptors and Signaling
- Neurological disorders and treatments
- RNA regulation and disease
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Renin-Angiotensin System Studies
- Ginkgo biloba and Cashew Applications
- Mitochondrial Function and Pathology
- Alzheimer's disease research and treatments
- Genetics and Neurodevelopmental Disorders
- Renal Diseases and Glomerulopathies
- Epigenetics and DNA Methylation
- Hormonal Regulation and Hypertension
- Pluripotent Stem Cells Research
- CRISPR and Genetic Engineering
- Hemoglobinopathies and Related Disorders
- Autism Spectrum Disorder Research
- Hemoglobin structure and function
- Banana Cultivation and Research
- Colorectal Cancer Screening and Detection
- Genetic factors in colorectal cancer
- Antibiotic Resistance in Bacteria
- Drug Transport and Resistance Mechanisms
- Cancer-related molecular mechanisms research
Singapore General Hospital
2015-2025
National Neuroscience Institute
2007-2024
China Medical University
2024
First Hospital of China Medical University
2024
Tan Tock Seng Hospital
2024
Nanyang Technological University
2024
Hebei Agricultural University
2023
Shanghai Tenth People's Hospital
2023
Tongji University
2023
Wuxi People's Hospital
2023
Abstract Common genetic variants that increase the risk for Parkinson's disease may differentiate patient subgroups and influence future individualized therapeutic strategies. Herein we show evidence leucine‐rich repeat kinase 2 (LRRK2) c.4883G>C (R1628P) as a factor in ethnic Chinese populations. A study of 1,986 individuals from 3 independent centers Taiwan Singapore demonstrates Lrrk2 R1628P increases (odds ratio, 1.84; 95% confidence interval, 1.20–2.83; p = 0.006). Haplotype analysis...
Mutations in the leucine rich repeat kinase 2 (LRRK2) gene are responsible for autosomal dominant and sporadic Parkinson disease (PD), possibly exerting their effects via a toxic gain of function. A common p.G2019S mutation (rs34637584:A>G) is up to 30–40% PD cases some ethnic populations. Here, we show that LRRK2 interacts with human peroxiredoxin 3 (PRDX3), mitochondrial member antioxidant family thioredoxin (Trx) peroxidases. Importantly, mutations domain significantly increased...
Accumulative evidence indicated that the pathologically accumulated metal ions (iron species and Mn3+) abnormally up-regulated monoamine oxidase B (MAOB) activity induced oxidation of endogenous dopamine (DA) can lead to mitochondria impairment, lysosome dysfunction, proteasome inhibition, selective DA neuron vulnerability, which is implicated in pathogenesis Parkinson’s disease (PD). The generate deleterious reactive oxygen (ROS) highly quinones (DAQ) induce DA-related toxicity, be...
The presence of Notch homolog 2 N-terminal-like C (NOTCH2NLC) repeat expansions are associated with neuronal intranuclear inclusion body disease (NIID), varied neurological signs, including neuropathy, ataxia, parkinsonism, and tremor. To date, genetic screening NOTCH2NLC GGC repeats in a cohort typical Parkinson (PD) appears not to have been reported.To investigate if present patients PD controls.This case-control study was conducted tertiary movement disorder centers Singapore....
We and others found two polymorphic LRRK2 (leucine-rich repeat kinase 2) variants (rs34778348:G>A; p.G2385R rs33949390:G>C; p.R1628P) associated with Parkinson disease (PD) among Chinese patients, but the common worldwide rs34637584:G>A; p.G2019S mutation, was absent. Focusing exclusively on Han Chinese, we first sequenced coding regions in young onset familial PD patients identified 59 variants. then examined these 250 control subjects. Among 17 variants, five demonstrated different...
BACKGROUND Serum carcinoembryonic antigen (CEA) is the only marker recommended for surveillance of colorectal cancer (CRC) recurrence; its sensitivity and specificity, however, are suboptimal. This study sought to evaluate values postoperative serum methylation levels 7 genes prognostication especially recurrence detection after curative resection. METHODS prospective cohort included 150 patients with stage I‐III CRC from whom 3 consecutive blood sampling was taken 1 week before, 6 months...
Pathogenic PINK1 mutations have been described in PARK6-linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency sporadic early-onset (EOPD) are lacking. The objectives this study were to report EOPD an cohort comprising ethnic Chinese, Malays, and Indians, highlight a PINK1-positive patient who presented with restless legs symptoms. Eighty consecutive from movement disorder clinics two major tertiary institutions country included. We performed sequence...
ObjectiveTo compare the incidence of carbapenemase genes in Acinetobacter baumannii between two time periods.
<h3>Objectives:</h3> The objective of this study is to clarify the role (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> expansions in etiology Parkinson disease (PD) worldwide multicenter Genetic Epidemiology Parkinson9s Disease (GEO-PD) cohort. <h3>Methods:</h3> <i>C9orf72</i> repeats were assessed a GEO-PD cohort 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained Europe, Asia, North America, Australia. <h3>Results:</h3> A pathogenic...
Coiled-coil-helix-coiled-coil-helix domain containing protein 2 (CHCHD2) mutations were linked with autosomal dominant Parkinson's disease (PD) and recently, Alzheimer's disease/frontotemporal dementia. In the current study, we generated isogenic human embryonic stem cell (hESC) lines harboring PD-associated CHCHD2 mutation R145Q or Q126X via clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated 9 (Cas9) method, aiming to unravel pathophysiologic mechanism seek...
We screened 662 subjects comprising 462 essential tremor (ET) (285 sporadic, 125 with family history, and 52 probands from well‐characterized ET pedigrees) 200 controls identified pathogenic NOTCH2NLC GGC repeat expansions in 4 sporadic patients. Two patients were followed up for >1 decade; one 90 repeats remained an phenotype that did not evolve after 40 years, whereas another patient 107 developed motor symptoms cognitive impairment 8 to 10 years. Neuroimaging this revealed severe...
Aging | doi:10.18632/aging.206196. Aarthi Santhanakrishnan, Yi Jayne Tan, Seyed Ehsan Saffari, Zhao, Ebonne Y.L. Ng, Samuel Y.E. Nicole S.Y. Chia, Xinyi Choi, Dede Heng, Shermyn Neo, Zheyu Xu, Kay Yaw Tay, Wing Lok Au, Eng-King Louis C.S. Adeline S.L. Ng
<h3>Background</h3> <i>MDR1</i>, a multidrug transporter, encodes P-glycoprotein that regulates the bioavailability of xenobiotics and is highly expressed at blood-brain-barrier. Two single nucleotide polymorphisms (SNPs) (e21/2677[G/T/A] e26/3435[C/T]) in the<i>MDR1</i>gene can lead to differences in<i>MDR1</i>expression function. Specific<i>MDR1</i>alleles 2 SNPs are positively selected among ethnic Chinese but not white population. <h3>Objective</h3> To determine whether specific...
Abstract Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder associated with GGC repeats of >60 to 500 copies in the 5′‐untranslated region NOTCH2NLC . The clinical and genetic characterization NIID outside East Asia remains unknown. We identified twelve patients who underwent testing using long‐read sequencing or repeat primed polymerase chain reaction. All were positive for expansion; median length was 107 (range 92‐138). Ten Chinese two Malay ethnicity. Age...
Zinc (Zn) is considered as one of the heavy metal pollutants in soil affecting agriculture. Salicylic acid (SA) an important phytohormone that can mitigate effects against various abiotic stresses plants, however, its exploration to improve Zn stress tolerance alfalfa plants still elusive. Thus, present study, exogenous SA treatment was conducted on under stress. The physiological and expression levels related genes were studied. This study tested biomass, relative water content, chlorophyll...