A5027986061- Genetics and Neurodevelopmental Disorders
- Virus-based gene therapy research
- CRISPR and Genetic Engineering
- Cardiac electrophysiology and arrhythmias
- Mitochondrial Function and Pathology
- RNA Interference and Gene Delivery
- Ubiquitin and proteasome pathways
- Adipose Tissue and Metabolism
- Signaling Pathways in Disease
- Computational Drug Discovery Methods
- Congenital heart defects research
- Down syndrome and intellectual disability research
- NF-κB Signaling Pathways
- Ion channel regulation and function
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Autism Spectrum Disorder Research
- Machine Learning in Bioinformatics
- CAR-T cell therapy research
- Extracellular vesicles in disease
- Biological Research and Disease Studies
- Wnt/β-catenin signaling in development and cancer
- Cardiomyopathy and Myosin Studies
- Melanoma and MAPK Pathways
- Cancer Research and Treatments
Korea Basic Science Institute
2020-2024
Korea Advanced Institute of Science and Technology
2023-2024
Korea Research Institute of Bioscience and Biotechnology
2024
Sookmyung Women's University
2016-2020
ADNP syndrome, involving the transcription factor of SWI/SNF chromatin-remodeling complex, is characterized by developmental delay, intellectual disability, and autism spectrum disorders (ASD). Although Adnp-haploinsufficient (Adnp-HT) mice display various phenotypic deficits, whether these abnormal synaptic functions remain poorly understood. Here, we report plasticity deficits associated with cognitive inflexibility CaMKIIα hyperactivity in Adnp-HT mice. These show impaired inflexible...
Abstract Autism spectrum disorders (ASD) represent neurodevelopmental characterized by social deficits, repetitive behaviors, and various comorbidities, including epilepsy. ANK2 , which encodes a neuronal scaffolding protein, is frequently mutated in ASD, but its vivo functions disease-related mechanisms are largely unknown. Here, we report that mice with Ank2 knockout restricted to cortical hippocampal excitatory neurons (Ank2-cKO mice) show ASD-related behavioral abnormalities juvenile...
Pancreatic ductal adenocarcinoma (PDAC) has a dismal prognosis due to the absence of diagnostic markers and molecular targets. Here, we took an unconventional approach identify new targets for pancreatic cancer. We chose uncharacterized protein evidence level 1 without function annotation from extensive proteomic research on cancer focused proline serine-rich 2 (PROSER2), which ranked high in cell membrane cytoplasm. In our study using lines patient-derived orthotopic xenograft cells,...
Abstract Dyrk1A deficiency is linked to various neurodevelopmental disorders, including developmental delays, intellectual disability (ID) and autism spectrum disorders (ASD). Haploinsufficiency of Dyrk1a in mice reportedly leads ASD-related phenotypes. However, the key pathological mechanisms remain unclear human DYRK1A mutations uncharacterized mice. Here, we generated studied -knockin carrying a ASD patient mutation (Ile48LysfsX2; Dyrk1a-I48K mice). These display severe microcephaly,...
Abstract Accurate diagnosis of breast cancer using circulating biomarkers present in plasma remains an important challenge. In particular, protein changes tumor-derived extracellular vesicles (tdEVs) have emerged as potential for because they accurately reflect dynamic tumors. this study, we compared the proteomes vesicle (EV) isolated from 100 patients and 30 healthy individuals who visited Severance Hospital between Mar 2010 Dec 2015. Microfluidic chip-based protocol that facilitates...
SH3 and multiple ankyrin repeat domains 3 (Shank3) proteins play crucial roles as neuronal postsynaptic scaffolds. Alongside neuropsychiatric symptoms, individuals with
Multiple cancer-related biological processes are mediated by protein-protein interactions (PPIs). Through with a variety of factors, members the ribosomal S6 kinase (RSK) family play roles in cell cycle progression and proliferation. In particular, RSK3 contributes to cancer viability, but underlying mechanisms remain unknown. We performed library screen find IκBα PPI binding partners identified as novel partner using cell-based distribution assay. addition, we discovered new inhibitor...
The unique ability of retroviruses to integrate genes into host genomes is great value for long-term expression in gene therapy, but only when integrations occur at safe genomic sites. To reap the benefit using without severe detrimental effects, we developed several murine leukemia virus (MLV)-based gammaretroviral vectors with safer integration patterns by perturbing structure integrase via insertion DNA-binding zinc-finger domains (ZFDs) an internal position enzyme. ZFD significantly...
In chromosome 11, 71 out of its 1254 proteins remain functionally uncharacterized on the basis their existence evidence (uPE1s) following latest version neXtProt (release 2020-01-17). Because in vivo and vitro experimental strategies are often time-consuming labor-intensive, there is a need for bioinformatics tool to predict function annotation. Here, we used I-TASSER/COFACTOR provided web site, which predicts gene ontology (GO) terms based 3D structure protein. predicted 2413 GO with...
For an enhanced understanding of the biological mechanisms human disease, it is essential to investigate protein functions. In a previous study, we developed prediction method gene ontology (GO) terms by I-TASSER/COFACTOR result, and applied this uPE1 in chromosome 11. Here, validate bioinformatics C11orf52, utilized affinity purification mass spectrometry identify interacting partners C11orf52. Using immunoprecipitation methods with three different peptide tags (Myc, Flag, 2B8) HEK 293T...
Retroviral vectors show long-term gene expression in therapy through the integration of transgenes into human cell genome. Murine leukemia virus (MLV), a well-studied gammaretrovirus, has been often used as representative retroviral vector. However, frequent integrations MLV-based transcriptional start sites (TSSs) could lead to activation oncogenes by enhancer effects genetic components within vectors. Therefore, MLV preference for TSSs limits its wider use clinical applications. To reduce...