Evidence map›Paper›PMID 41748310›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2026

A GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.

Lingzi Yang, Haoran Chi, Yifan Zhang, Dongmei Wu, Yang Hu, Jianhe Guo, Yunsen He, Jinhua Fan, Keyi Lv, Feifei Cheng and 7 more

Abstract read
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In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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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

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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

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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

17 authors.

Lingzi YangDepartment of Rehabilitation, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China.
Haoran ChiDepartment of Neurology, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.
Yifan ZhangDepartment of Neurology, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.
Dongmei WuDepartment of Neurology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Yang HuDepartment of Neurology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Jianhe GuoDepartment of Neurology, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.
Yunsen HeDepartment of Neurosurgery, Sichuan Lansheng Brain Hospital & Shanghai Lansheng Brain Hospital Investment Co., Ltd, Chengdu, China.
Jinhua FanCentral Laboratory, Chongqing University Fuling Hospital, Chongqing University, Fuling, China.
Keyi LvDepartment of Anesthesiology, Second Affiliated Hospital of Army Medical University, Chongqing, China.
Feifei ChengDepartment of Rehabilitation, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China.
Nong XiaoDepartment of Rehabilitation, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China.
Qiongling PengDepartment of Child Healthcare, Shenzhen Bao'an Women's and Children's Hospital, Shenzhen, China.
Yanling DongDepartment of Obstetrics, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Longlun WangDepartment of Radiology, Children's Hospital of Chongqing Medical University, Chongqing, China.
Bo WuDepartment of Neurosurgery, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Min ZhongDepartment of Rehabilitation, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China.
Tongfei LiuDepartment of Neurology, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.ORCID https://orcid.org/0000-0002-3553-6871

Funding

Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control 20242BCC32086Lingang Laboratory LGL-3142-ADB130300National Key R&D Program of China STI2030-Major Projects-2021ZD0202400National Key Research and Development Program of China 2024YFA1108000National Natural Science Foundation of China 82301774Natural Science Foundation Project of Chongqing, Chongqing Science and Technology Commission CSTB2022NSCQ-BHX0657Natural Science Foundation Project of Chongqing, Chongqing Science and Technology Commission CSTB2023NSCQ-MSX0217Youth Innovation in Future Medicine
6 · The paper itself

Abstract

backgroundSPG4, the most common hereditary spastic paraplegia caused by SPAST variants, exhibits extreme age-at-onset variability, indicative of uncharacterized genetic modifiers. The GJA1

objectiveWe investigated the molecular mechanism by which GJA1

methodsWe performed comprehensive clinical phenotyping, segregation analysis, coimmunoprecipitation, ubiquitination analyses, CRISPR-mediated correction in patient induced pluripotent stem cell2013derived organoids, and a targeted deubiquitinase screen.

resultsThe GJA1

conclusionsThe GJA1

Indexed as

Spastic Paraplegia, HereditarySpastinAge of OnsetFemaleHumansMaleValosin Containing ProteinSpastinSPAST protein, humanValosin Containing ProteinVCP protein, human

Identifiers

PMID41748310
PMCPMC13387937

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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.