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Blood Pathology Lab혈액병리 연구실

Eva Bagyinszky, Ph.D.

조교수

소개

Eva Bagyinszky는 치매와 관련 뇌질환의 유전학을 연구합니다. 2011년부터 한국, 말레이시아, 태국 환자에게서 발견된 PSEN1, PSEN2, APP 및 프리온 유전자(PRNP)의 새로운 돌연변이를 보고하고, 구조 예측과 세포 실험으로 각 돌연변이의 병원성 가능성을 평가해 왔습니다. 신경퇴행성 질환의 차세대 염기서열 분석(NGS)을 위한 유전자 패널 연구도 수행했습니다.

알츠하이머병의 유전학, 아포지단백 E(APOE), 프레세닐린-1(PSEN1), 반수체 부족(haploinsufficiency), TREM2, 전측두엽 치매의 그래뉼린(GRN), 근위축성 측삭경화증(ALS), 모야모야병에 관한 종설 논문을 발표했습니다.

연구 관심 분야

  • 치매

연구 분야

제1저자 논문

논문 45편

연구실 구성원의 ORCID 기록에서 자동으로 갱신됩니다.

2026

  1. Eva Bagyinszky, Seong Soo A. An

    Brain Blindness Versus Eye Blindness: Genetic and Molecular Connections Between Alzheimer’s Disease and Visual Impairment

    Current Issues in Molecular Biology 48(10):1081

    DOI

  2. Eva Bagyinszky, Seong Soo A. An

    ERBB4 and Neurodegeneration: Association Between Hypothalamic–Pituitary–Adrenal (HPA) Axis: Associated Neurodegenerative Pathogenesis

    Cells 15(18):1710

    DOIPubMed

  3. 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

    DOIPubMedPDF

2025

  1. 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

    DOIPubMedPDF

  2. 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

    DOIPubMedPDF

2024

  1. 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

    DOIPubMedPDF

  2. 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

    DOIPubMed

2023

  1. 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

    DOIPubMedPDF

  2. Eva Bagyinszky, John Hulme, Seong Soo A. An

    Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy

    Cells 12(15):1948

    DOIPubMedPDF

2021

  1. 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

    DOIPubMedPDF

2020

  1. 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)

    DOI

  2. 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

    DOIPubMedPDF

  3. Eva Bagyinszky, Vo Van Giau, SeongSoo A. An

    Transcriptomics in Alzheimer’s Disease: Aspects and Challenges

    International Journal of Molecular Sciences 21(10):3517

    DOIPubMedPDF

2019

  1. 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

    DOIPubMed

  2. 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

    DOIPubMedPDF

  3. 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

    DOIPubMedPDF

  4. 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)

    DOIPDF

  5. 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)

    DOIPDF

2018

  1. 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

    DOIPubMedPDF

  2. 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

    DOIPubMed

2017

  1. 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)

    DOI

  2. 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)

    DOIPDF

  3. 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)

    DOI

  4. Eva Bagyinszky, Vo Van Giau, Kyuhwan Shim, Kyoungho Suk, Seong Soo A. An, SangYun Kim

    Role of inflammatory molecules in the Alzheimer's disease progression and diagnosis

    Journal of the Neurological Sciences 376:242–254

    DOIPubMed

2016

  1. 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

    DOIPubMedPDF

  2. 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

    DOIPubMedPDF

  3. 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)

    DOIPDF

  4. 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)

    DOI

  5. 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)

    DOI

  6. 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)

    DOI

  7. 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

    DOI

2015

  1. 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

    DOIPubMedPDF

  2. Eva Bagyinszky, Young Ho Park, Young Ho Park, Min Jeong Wang, Young Chul Youn, Seong Soo A. An, SangYun Kim

    P1‐056: Genetics of early‐onset Alzheimer's disease (AD) in korea: An update

    Alzheimer s & Dementia 11(7S_Part_8)

    DOIPDF

  3. 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)

    DOI

  4. 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)

    DOI

  5. 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)

    DOI

2014

  1. Eva Bagyinszky, Young Chul Youn, Seong Soo A. An, SangYun Kim

    Characterization of inflammatory biomarkers and candidates for diagnosis of Alzheimer’s disease

    BioChip Journal 8(3):155–162

    DOI

  2. Eva Bagyinszky, Young Chul Youn, Seong Soo A. An, SangYun Kim

    Diagnostic methods and biomarkers for Alzheimer’s disease

    Toxicology and Environmental Health Sciences 6(3):133–147

    DOI

  3. 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)

    DOI

  4. 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)

    DOI

  5. Eva Bagyinszky, Young Chul Youn, Seong Soo A. An, SangYun Kim

    The genetics of Alzheimer's disease

    Clinical Interventions in Aging 9:535

    DOIPubMed

2013

  1. Eva Bagyinszky, Young Ho Park, Jae‐Won Jang, Seung Chan Kim, Young Chul Youn, Seong Soo A. An, SangYun Kim

    P1–069: Genetic analysis of Koreans with early‐onset Alzheimer's disease, updated

    Alzheimer s & Dementia 9(4S_Part_4)

    DOI

  2. Eva Bagyinszky, Young Ho Park, Jae‐Won Jang, Lingyan Shen, Young Chul Youn, Seong Soo A. An, SangYun Kim

    P3–023: Genetic analysis of PGRN and MAPT genes in Koreans with diverse neurodegenerative disorders

    Alzheimer s & Dementia 9(4S_Part_14)

    DOI

2012

  1. Eva Bagyinszky, Min A. Yee, Yooseok Kwon, Youngcheol Youn, Seong Soo A. An, SangYun Kim

    P4‐101: Genetic analysis of Korean early Alzheimer's and dementia patients

    Alzheimer s & Dementia 8(4S_Part_18)

    DOI

2011

  1. 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)

    DOIPDF