https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/396 2026-07-03T22:24:02Z 2026-07-03T22:24:02Z Lim, Su Min Kim, Suhyun Park, Jinseok Kim, Young-Eun Na, Ok Cho Nahm, Minyeop Noh, Min-Young Oh, Ki-Wook Ki, Chang-Seok Shin, Woong-Hee Park, Hae-Chul Kim, Seung Hyun https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/212896 2026-07-01T02:00:42Z 2026-05-01T00:00:00Z

Title: Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism Authors: Lim, Su Min; Kim, Suhyun; Park, Jinseok; Kim, Young-Eun; Na, Ok Cho; Nahm, Minyeop; Noh, Min-Young; Oh, Ki-Wook; Ki, Chang-Seok; Shin, Woong-Hee; Park, Hae-Chul; Kim, Seung Hyun Abstract: Background Mutations in the neuronal Na+/K+-ATPase subunit ATP1A3 are linked to a spectrum of neurological disorders, including rapid-onset dystonia-parkinsonism (RDP), yet their pathogenic mechanisms remain incompletely understood. We describe the complex clinical characteristics of a patient with early-onset movement disorders and a likely pathogenic de novo variant in ATP1A3(c & centerdot;2438C>T, p.A813V). Methods We identified a de novo heterozygous ATP1A3 p.A813V variant in a patient with clinically confirmed RDP and employed an integrative approach combining molecular dynamics (MD) simulations, zebrafish models, and patient-derived induced neurons (iNeurons) to delineate its pathogenesis. Results MD simulations revealed that the p.A813V substitution structurally distorts transmembrane helix packing, reduces structural stability, and diminishes water accessibility at the cation-binding site, predicting impaired Na+/K+-ATPase function. In vivo, atp1a3b knockout zebrafish developed pronounced neuronal hyperexcitability-reflected by elevated c-fos and pERK expression-that emerged before overt neurodegeneration, motor axonopathy, and neuromuscular junction defects. Complementarily, neurons expressing ATP1A3-p.A813V displayed significantly prolonged calcium transient decay times, suggesting a potential mechanism of altered Ca2+ handling and delayed clearance mechanisms compatible with ATP1A3 dysfunction. Consistent with these findings, patient-derived iNeurons exhibited markedly reduced ATP1A3 protein abundance and Na+/K+-ATPase activity. Conclusions Together, these findings lead us to propose a mechanistic model in which ATP1A3 dysfunction disrupts Ca2+ homeostasis, triggers neuronal hyperexcitability, and culminates in progressive neurodegeneration. This work provides a molecular and functional framework for targeting ionic and calcium homeostasis as a promising therapeutic strategy for ATP1A3-related disorders.

2026-05-01T00:00:00Z Lee, Dong Yoon Kim, Young Seo Kim, Mi Kyung Shin, Min-Ho Koh, Sang Baek Kim, Hyeon Chang Chung, Insung Lee, Jong-Min Kang, Yeonwook Kim, Yu-Mi https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/212792 2026-05-21T02:30:30Z 2026-04-01T00:00:00Z

Title: Physical frailty and MRI markers of structural brain integrity in the community-dwelling late middle-aged and old adults (vol 15, 40464, 2025) Authors: Lee, Dong Yoon; Kim, Young Seo; Kim, Mi Kyung; Shin, Min-Ho; Koh, Sang Baek; Kim, Hyeon Chang; Chung, Insung; Lee, Jong-Min; Kang, Yeonwook; Kim, Yu-Mi Abstract: Correction to: Scientific Reportshttps://doi.org/10.1038/s41598-025-24208-z, published online 18 November 2025 The original version of this Article contained errors. In the original version of this Article, a dataset contained a coding error, in which the code was mis-specified as ‘-5’ instead of ‘5’. Although this didn’t alter the study’s findings, some of the values are incorrect. (Table presented.) Furthermore, the values presented in Figs. 2 and 3 have been corrected. The Original, incorrect Figures and their accompanying legends are present in this Correction Note. And finally, some values in the Supplementary information file have been corrected. The Original Incorrect Supplementary information file is provided below. The original version of this Article has been corrected.

2026-04-01T00:00:00Z Kim, Yong Sung Lee, Yun-Jin Lee, Eun-Hye Park, Sojeong Kang, Dongwoo Sung, Wonjae Kim, Hee-Jin https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/213337 2026-06-17T06:00:25Z 2026-04-01T00:00:00Z

Title: Association between dental implantation and dementia: a nationwide population-based study Authors: Kim, Yong Sung; Lee, Yun-Jin; Lee, Eun-Hye; Park, Sojeong; Kang, Dongwoo; Sung, Wonjae; Kim, Hee-Jin Abstract: Background: Dementia is a growing global health concern with an increasing focus on identifying modifiable risk factors. Emerging evidence suggests a potential link between oral health and cognitive function in older adults. This study aimed to investigate the association between dental implants and the risk of dementia in patients with mild cognitive impairment (MCI) using nationwide data from the Korean National Health Insurance Service. Methods: We conducted a large-scale population-based cohort study using data from 2010 to 2020. Patients aged ≥ 65 years who were diagnosed with MCI were included and categorized based on their dental implant status. Cox proportional hazard regression models were used to calculate the hazard ratios (HRs) and 95% confidence intervals (CIs) for the incidence of Alzheimer’s disease (AD) and dementia with Lewy bodies (DLB). The models were adjusted for age, sex, Charlson comorbidity index scores, income level, and residential area. Results: Among 63,901 patients with MCI, those who received dental implants (n = 9,203) showed a significantly lower risk of developing AD than those without implants (n = 54,698) (adjusted HR = 0.37, 95% CI = [0.346–0.388], p < 0.001). For DLB, the association was not statistically significant after adjusting for confounders (adjusted HR = 0.57, 95% CI [0.326–1.004], p = 0.05). Patients with MCI who received dental implants were generally younger, with a higher proportion of males, urban residents, and individuals in higher income brackets. Conclusions: Although additional residual confounding factors cannot be excluded, dental implantation in patients with MCI was consistently associated with a lower risk of progression to AD after adjustment for measured covariates. Further prospective and interventional studies are warranted to explore the underlying mechanisms and establish a more apparent causal relationship between oral health and dementia risk.

2026-04-01T00:00:00Z Lee, Jun-seok Kwon, Junmo Ha, Jongmok Won, Ji-hye Youn, Jinyoung Watanabe, Hirohisa Kim, Hee-tae Park, Hyunjin Cho, Jin-whan https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/210817 2026-02-12T05:00:26Z 2026-03-01T00:00:00Z

Title: Imaging biomarkers for early prediction of the transition from idiopathic late-onset cerebellar ataxia to multiple system atrophy Authors: Lee, Jun-seok; Kwon, Junmo; Ha, Jongmok; Won, Ji-hye; Youn, Jinyoung; Watanabe, Hirohisa; Kim, Hee-tae; Park, Hyunjin; Cho, Jin-whan Abstract: Introduction: Idiopathic late-onset cerebellar ataxia (ILOCA) is a degenerative, non-hereditary form of adult-onset cerebellar ataxia. A subset of patients with ILOCA eventually develop multiple system atrophy of the cerebellar type (MSA-C), but imaging biomarkers that predict this transition remain unidentified. This study aimed to identify imaging biomarkers that may predict phenoconversion from ILOCA to MSA-C. Methods: A retrospective cohort of patients diagnosed with ILOCA who underwent baseline T1-weighted and diffusion-weighted magnetic resonance imaging (MRI) was analyzed. Patients were followed longitudinally and reclassified as ‘phenoconverters’ if they met diagnostic criteria for MSA-C, or as ‘non-phenoconverters’ otherwise. Clinical characteristics were compared between groups, and infratentorial volumetric and microstructural changes were assessed using diffusion tensor imaging (DTI). Results: Over a mean follow-up of 5.7 years, 13 of 45 patients (28.9 %) transitioned to a diagnosis of MSA-C. Phenoconverters exhibited more severe baseline ataxia compared to non-phenoconverters. While cerebellar volumes were similar between groups, phenoconverters had significantly reduced volumes in the pons and superior and middle cerebellar peduncles. Additionally, they demonstrated lower mean fractional anisotropy in the middle and inferior cerebellar peduncles. Conclusions: Patients with ILOCA who later develop MSA-C show early microstructural changes and volume loss in the pons and cerebellar peduncles. Combining infratentorial volumetry with DTI may offer complementary imaging biomarkers for predicting phenoconversion to MSA-C.

2026-03-01T00:00:00Z