https://scholar.dgist.ac.kr/handle/20.500.11750/6121 2026-09-20T14:26:13Z https://scholar.dgist.ac.kr/handle/20.500.11750/60695 Title: ANKS1A 단백질 변이체 또는 이를 암호화하는 폴리뉴클레오타이드를 이용한 알츠하이머 질병 진단 방법 Author(s): 박수철; 서진수; 박선아 Abstract: ANKS1A-A355D 단백질 변이체는 알츠하이머 환자에게서 발견되며, 정상적인 ANKS1A 단백질과 달리, LRP1 수용체의 세포막 발현을 유도하지 못하기 때문에 효율적으로 베타 아밀로이드 펩타이드와 같은 독성 단백질을 제거하지 못한다. 따라서, ANKS1A-A355D 단백질 변이체의 발현수준을 확인하거나 ANKS1A-A355D 단백질 변이체를 암호화하는 유전자 보유여부를 검출하여 알츠하이머 질병 발병에 대한 조기 진단 정보를 제공하는 방법을 제공한다. 또한, ANKS1A-A355D 단백질 변이체 또는 이를 암호화하는 폴리뉴클레오티드를 검출하는 제제를 포함하는 조성물을 제공한다. https://scholar.dgist.ac.kr/handle/20.500.11750/60112 Title: Sensory abnormalities in autism spectrum disorder and their in vitro modeling Author(s): Kim, Taeyeon; Lee, Juwon; Lee, Jiye; Jo, Hyeokjin; Oh, Yohan; Kim, Yong Jun; Seo, Jinsoo Abstract: Autism Spectrum Disorder (ASD) is characterized by deficits in social interaction, alongside abnormal sensory reactivity that often manifests as avoidance or repetitive behaviors. This review proposes that these core features may stem from somatosensory system dysfunction responsible for processing sensory information driven by an underlying excitatory-inhibitory (E/I) imbalance, a common finding in ASD models, which could drive such sensory impairments and ultimately contribute to the core social and behavioral deficits. We explore how recent advancements in hiPSC-derived assembloid models, which integrate multiple components of the human somatosensory pathway, provide a powerful platform to investigate these mechanisms. Crucially, this review not only highlights the promise of these models but also provides a critical evaluation of their inherent limitations, including cellular immaturity and the absence of key non-neuronal components. By examining the ongoing strategies to overcome these challenges, such as advanced co-culture systems, xenotransplantation, and bioengineering, this review offers a comprehensive outlook on the future of assembloid technology in elucidating ASD pathophysiology and developing novel therapeutic strategies. 2025-10-31T15:00:00Z https://scholar.dgist.ac.kr/handle/20.500.11750/60111 Title: Pelota-mediated ribosome-associated quality control counteracts aging and age-associated pathologies across species Author(s): Lee, Jongsun; Lee, Bora; Lee, Hyein; Kim, Eun Ji E.; Kim, Sieun S.; Kwon, Hyunwoo C.; Lee, Hanseul; Lee, Gee - Yoon; Hong, Woojin; Ham, Seokjin; Yang, Jae Won; Park, Heeju; Moreno, Tatiana M.; Brown, Michelle E.; Park, Hae- Eun H.; Kim, Eunah; Jung, Yoonji; Kang, Eunseok; Park, Sangsoon; Shin, Yeo Jin; Ha, Seokjun G.; Kwon, Sujeong; Hwang, Seungjae; Min, Hyemin; Kumsta, Caroline; Lim, Chunghun; Kang, Chanhee; Seo, Jinsoo; Lee, Kwang-Pyo; Leea, Seung-Jae, V Abstract: Ribosome-associated quality control (RQC) is a pivotal biological process that governs the fidelity of messenger RNA (mRNA) homeostasis and protein synthesis. Defects in RQC are implicated in cellular dysfunction and proteotoxicity, but their impact on aging remains elusive. Here, we show that Pelota, the ribosome rescue factor, promotes longevity and protects against age-related pathological phenotypes in multiple metazoan species. By performing a targeted genetic screen, we find that Pelota is indispensable for longevity in the nematode Caenorhabditis elegans. We show that Pelota mitigates premature senescence in cultured human cells, muscle aging in mice, and neuropathology in cellular and organoid models ofAlzheimer's disease. Mechanistically, we demonstrate that Pelota maintains autophagy-mediated proteostasis, by preventing the hyperactivation of mechanistic target of rapamycin signaling. Overall, our work highlights the conserved functional significance of RQC, regulated by Pelota, in extending lifespan and protecting diverse species against age-associated disease phenotypes. 2025-07-31T15:00:00Z https://scholar.dgist.ac.kr/handle/20.500.11750/60109 Title: Polygenic risk score of Alzheimer's disease is associated with cognitive trajectories and phenotypes of cerebral organoids Author(s): Chun, Min Young; Jung, Sang-Hyuk; Choe, Juran; Lee, Seung-yeon; Kim, Hang-Rai; Son, Hyo Jin; Choi, Yejoo; Cho, Minyoung; Kim, Beomsu; Jang, Hyemin; Choi, Seong Hye; Jeong, Jee Hyang; Son, Sang Joon; Hong, Chang Hyung; Roh, Hyun Woong; Na, Duk L.; Seo, Sang Won; Won, Hong-Hee; Seo, Jinsoo; Kim, Hee Jin Abstract: INTRODUCTION Polygenic risk score (PRS) identifies individuals at high genetic risk for Alzheimer's disease (AD), but its utility in predicting cognitive trajectories and AD pathologies remains unclear. We optimized PRS (optPRS) for AD, investigated its association with cognitive trajectories and AD phenotypes of cerebral organoids. METHODS Using genome-wide association study (GWAS) summary statistics from a European population, we developed optPRS to predict AD in Korean individuals (n = 1634). We analyzed the association between optPRS and cognitive trajectories (n = 771). We generated induced pluripotent stem cell-derived cerebral organoids from patients with high (n = 3) and low (n = 4) optPRS to evaluate amyloid beta (A beta) and phosphorylated tau (p-tau) levels. RESULTS OptPRS predicted AD dementia and A beta positivity, independent of apolipoprotein E (APOE). Higher optPRSs correlated with rapid cognitive decline. Cerebral organoids from the high optPRS group exhibited increased A beta insolubility and p-tau levels. CONCLUSION OptPRS predicted cognitive decline and AD phenotypes of cerebral organoids, supporting its use in risk assessments and drug-screening platform. 2025-08-31T15:00:00Z