Evidence map›Paper›PMID 42116168›Full record

ArticleJournal of translational medicine2026

Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism.

Su Min Lim, Suhyun Kim, Jinseok Park, Young-Eun Kim, Ok Cho Na, Minyeop Nahm, Min-Young Noh, Ki-Wook Oh, Chang-Seok Ki, Woong-Hee Shin and 2 more

Abstract read
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Article in Journal of translational medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Su Min Lim *Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.
Suhyun Kim *Department of Convergence Medicine, Korea University College of Medicine, Seoul, Republic of Korea.
Jinseok ParkDepartment of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.
Young-Eun KimDepartment of Laboratory Medicine, College of Medicine, Hanyang University, Seoul, Republic of Korea.
Ok Cho NaCell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea.
Minyeop NahmDementia Research Group, Korea Brain Research Institute, Daegu, Republic of Korea.
Min-Young NohDepartment of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.
Ki-Wook OhDepartment of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.
Chang-Seok KiGC Genome, Yongin, Republic of Korea.
Woong-Hee ShinDepartment of Biomedical Informatics, Korea University College of Medicine, Seoul, Republic of Korea.
Hae-Chul Park *Department of Convergence Medicine, Korea University College of Medicine, Seoul, Republic of Korea. hcpark67@korea.ac.kr.
Seung Hyun Kim *Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea. kimsh1@hanyang.ac.kr.ORCID 0000-0001-9644-9598

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMutations in the neuronal Na

methodsWe 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.

resultsMD 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

conclusionsTogether, these findings lead us to propose a mechanistic model in which ATP1A3 dysfunction disrupts Ca

Indexed as

CalciumDystoniaDystonic DisordersMutationParkinsonian DisordersSodium-Potassium-Exchanging ATPaseAnimalsFemaleHumansMaleMolecular Dynamics SimulationNeuronsZebrafishATP1A3 protein, humanCalciumSodium-Potassium-Exchanging ATPaseATP1A3Calcium dysregulationInduced neuronsNeurodegenerationNeuronal hyperexcitabilityRapid-onset dystonia-parkinsonismTransmembrane hydrationZebrafish

Identifiers

PMID42116168
PMCPMC13173752

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.