Eva Bagyinszky, Seong Soo A. An
ERBB4 and Neurodegeneration: Association Between Hypothalamic–Pituitary–Adrenal (HPA) Axis: Associated Neurodegenerative Pathogenesis
Cells 15(18):1710 (2026)
Genetics of dementia and neurodegeneration
We look for the gene mutations behind early-onset Alzheimer's disease and related disorders in Korean and other Asian patients, and work out whether new variants cause disease.
Much of the lab's work starts with patients. We sequence the genes known to cause early-onset Alzheimer's disease (APP, PSEN1 and PSEN2), along with panels of other neurodegeneration genes, in patients from Korea and elsewhere in Asia, including Thailand and Malaysia. Several of the mutations we have reported were new, among them APP Val669Leu, which we named "Seoul APP".
For each new variant we weigh the patient's symptoms and family history and use protein structure prediction to judge whether it is likely to cause disease. The same approach covers prion disease (PRNP), frontotemporal dementia and ALS (TARDBP, GRN, C9ORF72), and rarer conditions such as sacsinopathy and primary brain calcification. Reviews on presenilin-1, haploinsufficiency and TREM2 bring the case reports together.
Key methods
- Next-generation sequencing of dementia gene panels
- Review of symptoms and family history for each new variant
- Protein structure prediction
- Reviews of mutation spectra (PSEN1, PSEN2, TREM2)
Related publications
Niti Sharma, Seong Soo A. An
Microglial Dysfunction Induced by C9ORF72 Dipeptide Repeat Proteins: Biomarker and Therapeutic Perspectives
International Journal of Molecular Sciences 27(12):5537 (2026)
Eva Bagyinszky, Kim Minju, Young Ho Park, Danyeong Kim, Seong Soo A. An, SangYun Kim
A Novel Frameshift Mutation in SLC20A2 in a Korean Patient with Primary Brain Calcification, Parkinsonism and Memory Impairment
Biomedicines 14(3):675 (2026)
Danyeong Kim, Heewon Bae, Kyu Hwan Shim, Hyewon Yang, Da-Eun Jeong, Min Ju Kang, Seong Soo A. An
A novel TREM2 L15Q in signal peptide domain and its influence on Aβ pathogenicity
npj Dementia 2(1) (2026)
Danyeong Kim, Da‐Eun Jeong, Yunseo Gong, Hongjae Ahn, Min Ju Kang, Seong Soo A. An
Characterization of ATP10B R303W as a Novel Pathogenic Mutation in Parkinson's Disease
Alzheimer s & Dementia 21(S1):e097660 (2025)
Eva Bagyinszky, Seong Soo A. An
Targeting Granulin Haploinsufficiency in Frontotemporal Dementia: From Genetic Mechanisms to Therapeutics
International Journal of Molecular Sciences 26(20):9960 (2025)
Eva Bagyinszky, YoungSoon Yang, Seong Soo A. An
Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies
International Journal of Molecular Sciences 26(16):7864 (2025)
Hye-Won Yang, Danyeong Kim, YoungSoon Yang, Eva Bagyinszky, Seong Soo A. An
TREM2 in Neurodegenerative Disorders: Mutation Spectrum, Pathophysiology, and Therapeutic Targeting
International Journal of Molecular Sciences 26(15):7057 (2025)
Eva Bagyinszky, Seong Soo A. An
Haploinsufficiency and Alzheimer’s Disease: The Possible Pathogenic and Protective Genetic Factors
International Journal of Molecular Sciences 25(22):11959 (2024)
YoungSoon Yang, Eva Bagyinszky, Seong Soo A. An
A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer’s Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis
International Journal of Molecular Sciences 25(17):9678 (2024)
Keon Arbabi, Dwight F. Newton, Hyunjung Oh, Melanie Davie, David A. Lewis, Michael Wainberg, Shreejoy J. Tripathy, Etienne L. Sibille
Transcriptomic pathology of neocortical microcircuit cell types across psychiatric disorders
Molecular Psychiatry 30(3):1057–1068 (2024)
Eva Bagyinszky, Seong Soo A. An
Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases
International Journal of Molecular Sciences 25(15):8275 (2024)
Da-Eun Jeong, Danyeong Kim, Seong Soo A. An, Min Ju Kang
A Case of Frontotemporal Dementia With Amyotrophic Lateral Sclerosis (FTD-ALS) Associated With the TARDBP M337V Mutation
Journal of Cognitive Intervention and Digital Health 3(1):28 (2024)
Danyeong Kim, Nayoung Ryoo, Young Ho Park, Eva Bagyinszky, Seong Soo A. An, SangYun Kim
A Novel Mutation in Sacsin, p.Val1335IIe, May Cause Late-Onset Sacsinopathy Due to Haploinsufficiency
Current Issues in Molecular Biology 45(12):9917–9925 (2023)
Danyeong Kim, Kyu Hwan Shim, Hye-Won Yang, Heewon Bae, Min Ju Kang, Seunghwan Shin, Jongsung Kim, Kyusik Yun, Chang‐Hyun Jang, Seong Soo A. An
Pathogenic characteristics of genetically modified cells with TREM2 T44A mutation
Alzheimer s & Dementia 19(S13) (2023)
Eva Bagyinszky, Minju Kim, Young Ho Park, Seong Soo A. An, SangYun Kim
PSEN1 His214Asn Mutation in a Korean Patient with Familial EOAD and the Importance of Histidine–Tryptophan Interactions in TM-4 Stability
International Journal of Molecular Sciences 25(1):116 (2023)
YoungSoon Yang, Eva Bagyinszky, Seong Soo A. An
Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer’s Disease
International Journal of Molecular Sciences 24(20):15461 (2023)
YoungSoon Yang, Eva Bagyinszky, Seong Soo A. An
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer’s Disease
International Journal of Molecular Sciences 24(9):8417 (2023)
Heewon Bae, Kyu Hwan Shim, Jang Yoo, YoungSoon Yang, Seong Soo A. An, Min Ju Kang
Double Mutations in a Patient with Early-Onset Alzheimer’s Disease in Korea: An APP Val551Met and a PSEN2 His169Asn
International Journal of Molecular Sciences 24(8):7446 (2023)
MJ Kang, KH Shim, Seong Soo A. An
Identification of third PSEN1 Tyr389His variant in Korean Early-Onset Alzheimer's Disease
Alzheimer's Association International Conference (2023)
Kyu Hwan Shim, Sangjoon Kang, Seong Soo A. An, Min Ju Kang
Identification of the Third Case of PSEN1 Tyr389His Variant in Early-Onset Alzheimer’s Disease in Korea
International Journal of Molecular Sciences 23(24):16192 (2022)
Danyeong Kim, Kyu Hwan Shim, Eva Bagyinszky, Seong Soo A. An
Prion Mutations in Republic of Republic of Korea, China, and Japan
International Journal of Molecular Sciences 24(1):625 (2022)
Kyu Hwan Shim, Niti Sharma, Seong Soo A. An
Prion therapeutics: Lessons from the past
Prion 16(1):265–294 (2022)
YoungSoon Yang, Eva Bagyinszky, Seong Soo A. An, SangYun Kim
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer’s Disease
International Journal of Molecular Sciences 23(21):13331 (2022)
Jaya Bagaria, Eva Bagyinszky, Seong Soo A. An
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene
International Journal of Molecular Sciences 23(18):10970 (2022)
Jaya Bagaria, Yeonsil Moon, Eva Bagyinszky, Kyu Hwan Shim, Seong Soo A. An, SangYun Kim, Seol Heui Han
Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease
Frontiers in Neurology 13:899644 (2022)
Kyu-Hwan Shim, Min Ju Kang, Heewon Bae, Danyeong Kim, Ji‐Won Park, Seong Soo A. An, Da-Eun Jeong
A Possible Pathogenic PSEN2 Gly56Ser Mutation in a Korean Patient with Early-Onset Alzheimer’s Disease
International Journal of Molecular Sciences 23(6):2967 (2022)
Nayoung Ryoo, SangHak Yi, Seong Soo A. An, Young Ho Park, SangYun Kim
A Creutzfeldt–Jakob disease patient with V180I mutation survived for 16.5 years after diagnosis
Acta Neurologica Belgica 122(1):249–250 (2022)
Jaya Bagaria, Eva Bagyinszky, Seong Soo A. An
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration
International Journal of Molecular Sciences 23(1):552 (2022)
Danyeong Kim, Giau Van Vo, Eva Bagyinszky, Seong Soo A. An
PSEN1 Gly417Ala by CRISPR/Cas9 in functional pathogenicity
Alzheimer s & Dementia 17(S3) (2021)
Eva Bagyinszky, Gaik-Siew Ch’ng, Mei‐Yan Chan, Seong Soo A. An, SangYun Kim
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family
Brain Sciences 11(10):1328 (2021)
Dwight F. Newton, Hyunjung Oh, Rammohan Shukla, Keith A. Misquitta, Corey Fee, Mounira Banasr, Etienne L. Sibille
Chronic Stress Induces Coordinated Cortical Microcircuit Cell–Type Transcriptomic Changes Consistent With Altered Information Processing
Biological Psychiatry 91(9):798–809 (2021)
Jaya Bagaria, Kwangsik T. Nho, Seong Soo A. An
Importance of GWAS in finding un-targeted genetic association of sporadic Alzheimer’s disease
Molecular & Cellular Toxicology 17(3):233–244 (2021)
Eva Bagyinszky, Lindsay A. Farrer, John J. Farrell, Giau Van Vo, KyuHwan Shim, Seong Soo A. An, SangYun Kim
Alzheimer’s disease risk factor mutations in patients diagnosed with Creutzfelt‐Jakob disease
Alzheimer s & Dementia 16(S3) (2020)
Jaya Bagaria, Seong Soo A. An, Kwangsik T. Nho, Eva Bagyinszky, SangYun Kim
Whole exome sequencing analysis identifies genes and pathways in sporadic early‐onset Alzheimer’s disease
Alzheimer s & Dementia 16(S3) (2020)
Vo Van Giau, Jung‐Min Pyun, Eva Bagyinszky, Seong Soo A. An, Sang Yong Kim
Identification of a Pathogenic PSEN1 Ala285Val Mutation Associated with Early-Onset Alzheimer’s Disease
Current Alzheimer Research 17(5):438–445 (2020)
Eva Bagyinszky, Hyon Lee, Jung‐Min Pyun, Jeewon Suh, Min Ju Kang, Vo Van Giau, Seong Soo A. An, Kee Hyung Park, SangYun Kim
Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer’s Disease
Diagnostics 10(6):405 (2020)
Eva Bagyinszky, Vo Van Giau, SeongSoo A. An
Transcriptomics in Alzheimer’s Disease: Aspects and Challenges
International Journal of Molecular Sciences 21(10):3517 (2020)
Vorapun Senanarong, Seong Soo A. An, Vo Van Giau, Chanin Limwongse, Eva Bagyinszky, SangYun Kim
Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer’s Disease
Diagnostics 10(3):135 (2020)
Jae Wook Hyeon, Ran Noh, Jiwon Choi, Sol Moe Lee, Yeong Seon Lee, Seong Soo A. An, Kyoung Tai No, Jeongmin Lee
BMD42-2910, a Novel Benzoxazole Derivative, Shows a Potent Anti-prion Activity and Prolongs the Mean Survival in an Animal Model of Prion Disease
Experimental Neurobiology 29(1):93–105 (2020)
Jacqueline C. Dominguez, Arlene R. Ng, Jessica G. Yu, Anne Cristine Guevarra, Maria Luisa G. Daroy, Alicia C. Alfon, Joseree-Ann S Catindig, Mercedes Dizon, Jonas Francisco Y. Santiago, Maria Clarissa Ora Del Moral, Justine Megan F. Yu, Angelo Jamerlan, Antonio D. Ligsay, Eva Bagyinszky, Seong Soo A. An, SangYun Kim
Autosomal Dominant Frontotemporal Lobar Degeneration in a Filipino Family with Progranulin Mutation
Dementia and Geriatric Cognitive Disorders 49(6):557–564 (2020)
Vo Van Giau, Eva Bagyinszky, Young Chul Youn, Seong Soo A. An, SangYun Kim
APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease
International Journal of Molecular Sciences 20(19):4757 (2019)
Vo Van Giau, Eva Bagyinszky, Young Chul Youn, Seong Soo A. An, SangYun Kim
Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome
International Journal of Molecular Sciences 20(17):4298 (2019)
Vo Van Giau, Jung‐Min Pyun, Jeewon Suh, Eva Bagyinszky, Seong Soo A. An, SangYun Kim
A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease
BMC Neurology 19(1):188 (2019)
Kyu Choi, Jang Jae Lee, Tamil Iniyan Gunasekaran, Sarang Kang, Wooje Lee, Jangho Jeong, Ho Jae Lim, Xiaoling Zhang, Congcong Zhu, So-Yoon Won, Yu Choi, Eun Seo, Seok Lee, Jungsoo Gim, Ji Chung, Ari Chong, Min Byun, Sujin Seo, Pan‐Woo Ko, Jiwon Esther Han, Catriona McLean, John J. Farrell, Kathryn L. Lunetta, Akinori Miyashita, Norikazu Hara, Sungho Won, Seong-Min Choi, Jung‐Min Ha, Jee Hyang Jeong, Ryozo Kuwano, Min Kyung Song, Seong Soo A. An, Young Ju Lee, Kyung Won Park, Ho‐Won Lee, Seong Hye Choi, Sangmyung Rhee, Woo Keun Song, Jung Lee, Richard P Mayeux, Jonathan L. Haines, Margaret Ann Pericak‐Vance, Il Han Choo, Kwangsik T. Nho, Ki-Woong Kim, Dong Hun Lee, SangYun Kim, Byeong Chae Kim, Hoowon Kim, Gyungah Jun, Gerard D. Schellenberg, Takeshi Ikeuchi, Lindsay A. Farrer, Kun Ho Lee, Alzheimer’s Disease Neuroimaging Initiative
APOE Promoter Polymorphism-219T/G is an Effect Modifier of the Influence of APOE ε4 on Alzheimer’s Disease Risk in a Multiracial Sample
Journal of Clinical Medicine 8(8):1236 (2019)
Eva Bagyinszky, Min Ju Kang, Vo Van Giau, KyuHwan Shim, Jung‐Min Pyun, Jeewon Suh, Seong Soo A. An, SangYun Kim
Novel amyloid precursor protein mutation, Val669Leu (“Seoul APP”), in a Korean patient with early-onset Alzheimer's disease
Neurobiology of Aging 84:236.e1–236.e7 (2019)
Eva Bagyinszky, YoungSoon Yang, Vo Van Giau, Young Chul Youn, Seong Soo A. An, SangYun Kim
Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt–Jakob disease
Clinical Interventions in Aging Volume 14:1387–1397 (2019)
Eva Bagyinszky, Min Ju Kang, Jung‐Min Pyun, Vo Van Giau, Seong Soo A. An, SangYun Kim
Early-onset Alzheimer’s disease patient with prion (PRNP) p.Val180Ile mutation
Neuropsychiatric Disease and Treatment Volume 15:2003–2013 (2019)
Eva Bagyinszky, Giau Van Vo, Jung‐Min Pyun, Min Ju Kang, JiWon Suh, Young Ho Park, Young Chul Youn, SangYun Kim
P1‐143: A PATHOGENIC PRESENILIN‐1 (PSEN1) TRP165CYS MUTATION, DISCOVERED IN A KOREAN PATIENT
Alzheimer s & Dementia 15(7S_Part_5) (2019)
Giau Van Vo, Eva Bagyinszky, Young Chul Youn, Seong Soo A. An, SangYun Kim
P2‐117: THE FREQUENCY OF APP, PSEN1, AND PSEN2 MUTATIONS IN EARLY‐ONSET ALZHEIMER'S DISEASE DISCOVERED IN ASIAN COUNTRIES
Alzheimer s & Dementia 15(7S_Part_12) (2019)
Eva Bagyinszky, Giau Van Vo, Kyu Hwan Shim, Jaya Bagaria, Jung‐Min Pyun, Min Ju Kang, JiWon Suh, Young Chul Youn, Seong Soo A. An, SangYun Kim
P2‐120: UPDATE ON RARE SORTILIN RELATED RECEPTOR‐1 (SORL1) MUTATIONS IN KOREAN, THAI AND MALAYSIAN EOAD AND DEMENTIA PATIENTS, WITH STRUCTURE PREDICTIONS
Alzheimer s & Dementia 15(7S_Part_12) (2019)
Seong Soo A. An, Eva Bagyinszky, Giau Van Vo, Kyu Hwan Shim, Jung‐Min Pyun, Min Ju Kang, JiWon Suh, Young Chul Youn, SangYun Kim
P3‐115: WHOLE EXOME SEQUENCING ANALYSIS OF KOREAN PATIENTS WITH EARLY ONSET DEMENTIA
Alzheimer s & Dementia 15(7S_Part_18) (2019)
KyuHwan Shim, Eva Bagyinszky, Giau Van Vo, Angelo Jamerlan, Seong Soo A. An
P3‐185: OPTIMAL FUNCTIONAL CHARACTERIZATION OF TRANSFECTED PSEN1 L232P CELL‐LINE BY CRISPR/CAS9
Alzheimer s & Dementia 15(7S_Part_19) (2019)
Giau Van Vo, Eva Bagyinszky, Eunhye Seo, Young Chul Youn, Seong Soo A. An, SangYun Kim
P4‐082: NOTCH3 MUTATIONS, AND THEIR POSSIBLE INVOLVEMENT IN ALZHEIMER'S DISEASE
Alzheimer s & Dementia 15(7S_Part_25) (2019)
Vo Van Giau, Eva Bagyinszky, Young Soon Yang, Young Chul Youn, Seong Soo A. An, SangYun Kim
Genetic analyses of early-onset Alzheimer’s disease using next generation sequencing
Scientific Reports 9(1):8368 (2019)
Lingyan Shen, Seong Soo A. An, Eva Bagyinszky, Vo Van Giau, Seong Hye Choi, SangYun Kim
Novel GRN mutations in Koreans with Alzheimer’s disease
Molecular & Cellular Toxicology 15(3):345–352 (2019)
Dwight F. Newton, Hyunjung Oh, Rammohan Shukla, Corey Fee, Gary D. Bader, Mounira Banasr, Etienne L. Sibille
T120. Transcriptomic Analysis of Cortical Microcircuit Cell-Types Reveals Differential Cellular Vulnerabilities and Adaptations to Chronic Stress
Biological Psychiatry 85(10):S175 (2019)
Vo Van Giau, Vorapun Senanarong, Eva Bagyinszky, Seong Soo A. An, SangYun Kim
Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer’s Disease
International Journal of Molecular Sciences 20(6):1514 (2019)
Min Ju Kang, Jeewon Suh, Seong Soo A. An, SangYun Kim, Young Ho Park
Pearls & Oy-sters: Challenging diagnosis of Gerstmann-Sträussler-Scheinker disease
Neurology 92(2):101–103 (2019)
Vo Van Giau, Vorapun Senanarong, Eva Bagyinszky, Chanin Limwongse, Seong Soo A. An, SangYun Kim
Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease
Neuropsychiatric Disease and Treatment Volume 14:3015–3023 (2018)
Eva Bagyinszky, Hye Mi Lee, Vo Van Giau, Seong‐Beom Koh, Jee Hyang Jeong, Seong Soo A. An, SangYun Kim
PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer’s Disease
International Journal of Molecular Sciences 19(9):2604 (2018)
Eva Bagyinszky, Vo Van Giau, Young Chul Youn, Seong Soo A. An, SangYun Kim
Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases
Neuropsychiatric Disease and Treatment Volume 14:2067–2085 (2018)
Vo Van Giau, Min Jeong Wang, Eva Bagyinszky, Young Chul Youn, Seong Soo A. An, SangYun Kim
Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism
Neurobiology of Aging 72:188.e13–188.e17 (2018)
Vo Van Giau, Jung‐Min Pyun, Eva Bagyinszky, Seong Soo A. An, SangYun Kim
A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer’s disease
Clinical Interventions in Aging Volume 13:1321–1329 (2018)
Giau Van Vo, Vorapun Senanarong, Eva Bagyinszky, Chanin Limwongse, Seong Soo A. An, SangYun Kim
P1‐165: A NOVEL APP VAL604MET MUTATION IN A THAI WITH EARLY‐ONSET ALZHEIMER DISEASE
Alzheimer s & Dementia 14(7S_Part_6) (2018)
Giau Van Vo, Vorapun Senanarong, Eva Bagyinszky, Chanin Limwongse, Seong Soo A. An, SangYun Kim
P1‐166: SCREENING FOR MUTATIONS IN EARLY‐ONSET ALZHEIMER'S DISEASE FROM THAILAND WITH ADAM GENEPANEL 1
Alzheimer s & Dementia 14(7S_Part_6) (2018)
Min Ju Kang, SangYun Kim, Jeewon Suh, Seong Soo A. An, Young Ho Park
P1‐337: GERSTMANN‐STRAUSSLER‐SCHEINKER DISEASE DUE TO A DE NOVO PRION PROTEIN GENE MUTATION
Alzheimer s & Dementia 14(7S_Part_7) (2018)
Giau Van Vo, Eva Bagyinszky, Hyemi Lee, Seong‐Beom Koh, Jee Hyang Jeong, Seong Soo A. An, SangYun Kim
P2‐109: A KNOWN PSEN1 MUTATION, T116I, ASSOCIATED WITH EARLY ONSET ALZHEIMER'S DISEASE IN A KOREAN FAMILY
Alzheimer s & Dementia 14(7S_Part_13) (2018)
Giau Van Vo, Eva Bagyinszky, Vorapun Senanarong, Chanin Limwongse, Seong Soo A. An, SangYun Kim
P3‐099: A KNOWN PSEN1 E184G MUTATION IN AN EOAD PATIENT FROM THAILAND
Alzheimer s & Dementia 14(7S_Part_20) (2018)
Giau Van Vo, Gaik-Siew Ch’ng, Vorapun Senanarong, D. Ligsay Antonio, Kyu Hwan Shim, Angelo Jamerlan, Eunhye Seo, Eva Bagyinszky, Young‐Ho Park, Seong Soo A. An, SangYun Kim
P4‐039: APP, PSEN1, AND PSEN2 MUTATIONS IN EARLY‐ONSET ALZHEIMER'S DISEASE DISCOVERED IN ASIAN COUNTRIES: A GENETIC SCREENING STUDY OF FAMILIAL AND SPORADIC CASES
Alzheimer s & Dementia 14(7S_Part_27) (2018)
Vo Van Giau, Eva Bagyinszky, Seong Soo A. An, SangYun Kim
Clinical genetic strategies for early onset neurodegenerative diseases
Molecular & Cellular Toxicology 14(2):123–142 (2018)
Vo Van Giau, Hyon Lee, Kyu Hwan Shim, Eva Bagyinszky, Seong Soo A. An
Genome-editing applications of CRISPR–Cas9 to promote in vitro studies of Alzheimer’s disease
Clinical Interventions in Aging Volume 13:221–233 (2018)
Eva Bagyinszky, Vo Van Giau, Kyu Hwan Shim, Young Ho Park, Min Jeong Wang, Seong Soo A. An, SangYun Kim
[P1–152]: A NOVEL APP (V669L) MUTATION IN A KOREAN AD PATIENT
Alzheimer s & Dementia 13(7S_Part_6) (2017)
Vo Van Giau, Eva Bagyinszky, Kyu Hwan Shim, YoungSoon Yang, Young Chul Youn, Seong Soo A. An, SangYun Kim
[P1–162]: GENETIC ANALYSES OF YOUNG PATIENTS WITH ALZHEIMER's DISEASE FROM NEXT GENERATION SEQUENCING
Alzheimer s & Dementia 13(7S_Part_6) (2017)
Eva Bagyinszky, Vo Van Giau, Kyu Hwan Shim, Min Jeong Wang, Young Ho Park, Seong Soo A. An, SangYun Kim
[P2–112]: A NOVEL PSEN1 G417A MUTATION IN A KOREAN AD PATIENT WITH PARKINSONISM
Alzheimer s & Dementia 13(7S_Part_13) (2017)
Vo Van Giau, Eva Bagyinszky, Kyu Hwan Shim, YoungSoon Yang, Young Chul Youn, Seong Soo A. An, SangYun Kim
[P2–127]: HIGH FREQUENCY OF ABCA7 MUTATIONS IN PATIENTS WITH EARLY‐ONSET ALZHEIMER's DISEASE
Alzheimer s & Dementia 13(7S_Part_13) (2017)
Eva Bagyinszky, Vo Van Giau, Kyu Hwan Shim, Min Jeong Wang, Young Ho Park, YoungSoon Yang, Kyusik Yun, Young Chul Youn, Seong Soo A. An, SangYun Kim
[P3–086]: NOVEL AND KNOWN RARE SORL1 MUTATIONS IN KOREAN AD PATIENTS
Alzheimer s & Dementia 13(7S_Part_20) (2017)
Vo Van Giau, Eva Bagyinszky, Kyu Hwan Shim, YoungSoon Yang, Young Chul Youn, Seong Soo A. An, SangYun Kim
[P3–113]: MUTATIONAL ANALYSIS OF PRNP IN EARLY ONSET ALZHEIMER's DISEASE IN KOREA
Alzheimer s & Dementia 13(7S_Part_20) (2017)
Young Chul Youn, Jae‐Won Jang, Su‐Hyun Han, Hye-Ryoun Kim, Ju Won Seok, Jun Soo Byun, Kwang‐Yeol Park, Seong Soo A. An, In Kook Chun, SangYun Kim
11C-PIB PET imaging reveals that amyloid deposition in cases with early-onset Alzheimer’s disease in the absence of known mutations retains higher levels of PIB in the basal ganglia
Clinical Interventions in Aging Volume 12:1041–1048 (2017)
Brad R. Rocco, Rammohan Shukla, Hyunjung Oh, Etienne L. Sibille
157. Novel Methods for Assessing Cell-Type Specific Differences in Human Brain
Biological Psychiatry 81(10):S65 (2017)
Jiyun Park, Seong Soo A. An, Vo Van Giau, Kyuhwan Shim, Young Chul Youn, Eva Bagyinszky, SangYun Kim
Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia
Neurobiology of Aging 56:212.e11–212.e17 (2017)
Kyung Won Park, Seong Soo A. An, Eva Bagyinszky, SangYun Kim
A case of possibly pathogenic PSEN2 R62C mutation in a patient with probable early-onset Alzheimer’s dementia supported by structure prediction
Clinical Interventions in Aging Volume 12:367–375 (2017)
Jae Wook Hyeon, Su Yeon Kim, Sol Moe Lee, Jeongmin Lee, Seong Soo A. An, Myung Koo Lee, Yeong Seon Lee
Anti-Prion Screening for Acridine, Dextran, and Tannic Acid using Real Time–Quaking Induced Conversion: A Comparison with PrPSc-Infected Cell Screening
PLoS ONE 12(1):e0170266 (2017)
Seong Soo A. An, Sun Ah Park, Eva Bagyinszky, Sunoh Bae, Yoon-Jeong Kim, Ji Young Im, Kyung Won Park, Kee Hyung Park, Eun‐Joo Kim, Jee Hyang Jeong, Jong Hun Kim, Hyun Jeong Han, Seong Hye Choi, SangYun Kim
A genetic screen of the mutations in the Korean patients with early-onset Alzheimer’s disease
Clinical Interventions in Aging Volume 11:1817–1822 (2016)
Yan Cai, Eva Bagyinszky, Seong Soo A. An, SangYun Kim
In silico modeling of pathogenic or possibly pathogenic point mutations in PSEN2
Molecular & Cellular Toxicology 12(4):453–464 (2016)
Eva Bagyinszky, Young Chul Youn, Seong Soo A. An, SangYun Kim
Mutations, associated with early-onset Alzheimer’s disease, discovered in Asian countries
Clinical Interventions in Aging Volume 11:1467–1488 (2016)
Eva Bagyinszky, Sun Ah Park, Hyung-Jun Kim, Seong Hye Choi, Seong Soo A. An, SangYun Kim
PSEN1 L226F mutation in a patient with early-onset Alzheimer’s disease in Korea
Clinical Interventions in Aging Volume 11:1433–1440 (2016)
Vo Van Giau, SangYun Kim, Seong Soo A. An
IC‐P‐073: APOE7 Mutation Linked To Alzheimer's Disease
Alzheimer s & Dementia 12(7S_Part_1) (2016)
Eva Bagyinszky, Vo Van Giau, Jae‐Won Jang, Min Jeong Wang, Young Ho Park, Seong Soo A. An, Young Chul Youn, SangYun Kim
P1‐125: A Possible Pathogenic Psen2 Mutation, H169N in a Korean Eoad Patient
Alzheimer s & Dementia 12(7S_Part_9) (2016)
Vo Van Giau, Seong Soo A. An, SangYun Kim
P1‐208: a Novel Mutation in the S100A9 Gene Associated with Alzheimer's Disease in a Malaysian Family: Five Cases Report
Alzheimer s & Dementia 12(7S_Part_10) (2016)
Eva Bagyinszky, Vo Van Giau, Young Ho Park, Min Jeong Wang, Young Ho Park, Jae‐Won Jang, Young Chul Youn, Seong Soo A. An, SangYun Kim
P2‐092: Novel, PSEN1 T119I Mutation in an Early‐Onset Alzheimer's Disease Patient
Alzheimer s & Dementia 12(7S_Part_13) (2016)
Vo Van Giau, Seong Soo A. An, SangYun Kim
P2‐148: A Novel Mutation (E99K) in the S100A9 Gene in East Asian Alzheimer's Disease
Alzheimer s & Dementia 12(7S_Part_14) (2016)
Eva Bagyinszky, Vo Van Giau, Young Ho Park, Min Jeong Wang, Young Ho Park, Jae‐Won Jang, Young Chul Youn, Seong Soo A. An, SangYun Kim
P3‐102: Genetic Screening for TAU (MAPT) Mutations in Korean Early Onset Alzheimer's Disease Patients
Alzheimer s & Dementia 12(7S_Part_17) (2016)
Vo Van Giau, SangYun Kim, Seong Soo A. An
P3‐142: Novel, Probably Pathogenic CLU Mutation (TRP15ARG) in a Korean Normal Pressure Hydrocephalus Disease (NPH) Patient
Alzheimer s & Dementia 12(7S_Part_18) (2016)
Eva Bagyinszky, Vo Van Giau, Min Jeong Wang, Young Ho Park, Jae‐Won Jang, Young Ho Park, Young Chul Youn, Seong Soo A. An, SangYun Kim
P4‐050: Two Novel GRN Mutations in Korean Patients Diagnosed with Early Onset Alzheimer's Disease
Alzheimer s & Dementia 12(7S_Part_21) (2016)
Vo Van Giau, Seong Soo A. An, SangYun Kim, Eva Bagyinszky
TD‐P‐002: Genetic Diagnosis of Neurodegenerative Disorders Based on Gene Panels and Primers by Next‐Generation Sequencing
Alzheimer s & Dementia 12(7S_Part_3) (2016)
Eva Bagyinszky, Sunoh Bae, SangYun Kim, Seong Soo A. An
In silico modeling of pathogenic point mutations in PSEN1 as studied in South-east Asia
Toxicology and Environmental Health Sciences 8(2):135–153 (2016)
Seong Soo A. An, Eva Bagyinszky, Hye Ryoun Kim, Ju–Won Seok, Hae‐Won Shin, SeunOh Bae, SangYun Kim, Young Chul Youn
Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction
BMC Neurology 16(1):71 (2016)
Acharya Balkrishna, Hemanth Kumar Manikyam, Vinay Kumar Sharma, Niti Sharma
Safety evaluation of Picrorhiza kurroa rhizome extract by bacterial reverse mutation test
Advanced Studies in Biology 8:127–140 (2016)
Jae Wook Hyeon, Jiwon Choi, Su Yeon Kim, Rajiv Gandhi Govindaraj, Kyu Jam Hwang, Yeong Seon Lee, Seong Soo A. An, Myung Koo Lee, Jong Young Joung, Kyoung Tai No, Jeongmin Lee
Discovery of Novel Anti-prion Compounds Using In Silico and In Vitro Approaches
Scientific Reports 5(1):14944 (2015)
Eva Bagyinszky, Gaik-Siew Ch’ng, Sunoh Bae, Seong Soo A. An, SangYun Kim
Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family
Neuropsychiatric Disease and Treatment 11:2315 (2015)
Seong Soo A. An, Yan Cai, SangYun Kim
Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders
Clinical Interventions in Aging 10:1163 (2015)
Eva Bagyinszky, Ji-Yun Park, SeunOh Bae, Young Chul Youn, Seong Soo A. An, SangYun Kim
P1‐057: Novel, probably pathogenic PSEN1 mutation (L232P) in a korean Alzheimer's disease patient
Alzheimer s & Dementia 11(7S_Part_8) (2015)
Eva Bagyinszky, Young Chul Youn, Seong Soo A. An, SangYun Kim
P2‐018: Novel, probably pathogenic PSEN1 mutation (G209A) in a korean Alzheimer's disease patient
Alzheimer s & Dementia 11(7S_Part_10) (2015)
Eva Bagyinszky, Gaik-Siew Ch’ng, SeunOh Bae, Young Chul Youn, Seong Soo A. An, SangYun Kim
P3‐015: Novel PSEN1 mutation (E280K) in a malaysian family
Alzheimer s & Dementia 11(7S_Part_13) (2015)
Vo Van Giau, Seong Soo A. An, Eva Bagyinszky, SangYun Kim
Gene panels and primers for next generation sequencing studies on neurodegenerative disorders
Molecular & Cellular Toxicology 11(2):89–143 (2015)
Jin Woo Jang, Seung Gyu Yun, Mi-Kyung Woo, Eun‐Taek Han, Feng Lu, Qi Gao, Soo Young Yoon, Seong Soo A. An, Chae Seung Lim
Sequence polymorphisms of Plasmodium vivax tryptophan and alanine rich antigen (PvTARAg55)
Acta Tropica 142:122–126 (2014)
Eva Bagyinszky, Sun A. Park, Yan Cai, Sunoh Bae, Jae Yeon Joo, Seong Soo A. An, SangYun Kim, Young Chul Youn
P1‐132: PATHOGENIC PSEN1 MUTATION DETECTED IN A KOREAN EOAD PATIENT
Alzheimer s & Dementia 10(4S_Part_9) (2014)
Eva Bagyinszky, Kyung Won Park, Jae Yeon Joo, Sunoh Bae, Yan Cai, Youngcheol Youn, SangYun Kim, Seong Soo A. An
P1‐133: POSSIBLY PATHOGENIC PSEN2 (R62C) MUTATION IN A KOREAN AD PATIENT
Alzheimer s & Dementia 10(4S_Part_9) (2014)
Young Chul Youn, Eva Bagyinszky, HyeRyoun Kim, Byung‐Ok Choi, Seong Soo A. An, SangYun Kim
Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction
BMC Neurology 14(1):105 (2014)
Jihoon Nah, Jong-Ok Pyo, Sunmin Jung, Seung-Min Yoo, Tae‐In Kam, Jae-Woong Chang, Jonghee Han, Seong Soo A. An, Takashi Onodera, Yong‐Keun Jung
BECN1/Beclin 1 is recruited into lipid rafts by prion to activate autophagy in response to amyloid β 42
Autophagy 9(12):2009–2021 (2013)
Mino Kang, Su Yeon Kim, Seong Soo A. An, Young Ran Ju
Characterizing affinity epitopes between prion protein and β-amyloid using an epitope mapping immunoassay
Experimental & Molecular Medicine 45(8):e34 (2013)
Young Chul Youn, Eva Bagyinszky, Sunoh Bae, HyeRyoun Kim, Byung‐Ok Choi, Seong Soo A. An, SangYun Kim
P1–072: A potential pathogenic effect of a novel PSEN2 mutation (Val214Leu) detected in Korea
Alzheimer s & Dementia 9(4S_Part_4) (2013)
Mi Kyung Woo, Kyeong Ah Kim, JuYeon Kim, Junseo Oh, Eun‐Taek Han, Seong Soo A. An, Chae Seung Lim
Sequence polymorphisms in Pvs48/45 and Pvs47 gametocyte and gamete surface proteins in Plasmodium vivax isolated in Korea
Memórias do Instituto Oswaldo Cruz 108(3):359–367 (2013)
E Sibille, Y Ding, LC Chang, X Wang, JP Guilloux, J Parrish, Hyunjung Oh, ...
Combined Brain Transcriptome Meta-analysis and Genome-wide Association Studies Provide Evidence for Shared Genetic Risk Between Depression and Other Brain Disorders
NEUROPSYCHOPHARMACOLOGY 38:S474-S474 (2013)
Jung‐Eun Kim, Eva Bagyinszky, Young Hee Chang, Gheeyoung Choe, Byung‐Ok Choi, Seong Soo A. An, SangYun Kim
A novel PSEN1 H163P mutation in a patient with early-onset Alzheimer's disease: Clinical, neuroimaging, and neuropathological findings
Neuroscience Letters 530(2):109–114 (2012)
Jae Wook Hyeon, Su Yeon Kim, Jun Sun Park, Bo Yeong Choi, Sol Moe Lee, Young Ran Ju, Seong Soo A. An, Chi-Kyeong Kim
The association between prion proteins and Aβ1–42 oligomers in cytotoxicity and apoptosis
Biochemical and Biophysical Research Communications 424(2):214–220 (2012)
Eva Bagyinszky, Mino Kang, Younghee Jang, Youngcheol Youn, Hae R.I. NA, YoungSoon Yang, SeongSoo A. An, SangYun Kim
P1‐210: Searching for Novel Korean Alzheimer's Disease Mutations
Alzheimer s & Dementia 7(4S_Part_5) (2011)
Eun‐Taek Han, Won Ja Lee, Jetsumon Sattabongkot, Jin Woo Jang, Myung‐Hyun Nam, Seong Soo A. An, In Bum Suh, Chae Seung Lim
Sequence polymorphisms of Plasmodium vivax ookinete surface proteins (Pvs25 and Pvs28) from clinical isolates in Korea
Tropical Medicine & International Health 15(9):no (2010)
Seong Soo A. An, Kuntaek Lim, H.J. Oh, Byoungsub Lee, E. Zukic, Young Ran Ju, Takashi Yokoyama, Su Yeon Kim, Ervin Welker
Differentiating blood samples from scrapie infected and non-infected hamsters by detecting disease-associated prion proteins using Multimer Detection System
Biochemical and Biophysical Research Communications 392(4):505–509 (2010)
Bo Yeong Choi, Su Yeon Kim, So‐Young Seo, Seong Soo A. An, SangYun Kim, Sang-Eun Park, Seung‐Han Lee, Yun-Ju Choi, Sang‐Jin Kim, Chi-Kyeong Kim, Jun-Sun Park, Young-Ran Ju
Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients
BMC Infectious Diseases 9(1):132 (2009)
Seong Soo A. An
Differential Epitope-Mapping of the Two Forms of the Prion Protein: Alterations at the C-Terminus
Bulletin of the Korean Chemical Society 29(12):2403–2406 (2008)
Seo Young Song, Seong Soo A. An, Sook Won Ryu, Jang Soo Kim, In Bum Suh
Evaluation of the Genotypes of the Lewis Blood Group in a Korean Population Using Direct Sequencing
The Korean Journal of Hematology 43(1):34 (2008)
SangYun Kim, Hae‐Kwan Cheong, Seong Soo A. An
Human Prion Diseases
Journal of Korean Medical Association 51(12):1125 (2008)