Evidence map›Paper›PMID 40931016›Full record

ArticleSignal transduction and targeted therapy2025

Loss-of-function variations in solute carrier family 38 member 6 are associated with essential tremor.

Zhangqi Yuan, Qiying Sun, Junyu Luo, Lu Zhang, Yichi Zhang, Jifeng Guo, Cheng Wang, Kangjuan Yang, Shumin Yang, Yanjie Cao and 15 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Signal transduction and targeted therapy, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

25 authors.

Zhangqi Yuan *College of Life Science and Technology, Huazhong University of Science and Technology (HUST), Wuhan, Hubei, China.
Qiying Sun *Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Junyu Luo *Department of Neurology & Institute of Neurology, Ruijin Hospital affiliated to Medical College of the Shanghai Jiao Tong University, Shanghai, China.
Lu Zhang *Institute of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, China.
Yichi Zhang *Department of Neurology & Institute of Neurology, Ruijin Hospital affiliated to Medical College of the Shanghai Jiao Tong University, Shanghai, China.
Jifeng GuoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Cheng WangCollege of Life Science and Technology, Huazhong University of Science and Technology (HUST), Wuhan, Hubei, China.
Kangjuan YangDepartment of Cell Biology and Medical Genetics, Medical College of Yanbian University, Yanji, Jilin, China.
Shumin YangDepartment of Continuing Medical Education, Tianjin Dongli District School of Advanced Health Education, Tianjin, China.
Yanjie CaoCollege of Life Science and Technology, Huazhong University of Science and Technology (HUST), Wuhan, Hubei, China.
Yinhua ShenCollege of Life Science and Technology, Huazhong University of Science and Technology (HUST), Wuhan, Hubei, China.
Jiaming CuiInstitute of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, China.
Hengxiang CuiShanghai Jiao Tong University School of Medicine, Shanghai, China.
Hao SunInstitute of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, China.
Tingbin MaInstitute of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, China.
Xuan XuInstitute of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, China.
Chun-Jie LiuCollege of Life Science and Technology, Huazhong University of Science and Technology (HUST), Wuhan, Hubei, China.
Tao WangDepartment of Neurology, Union Hospital of HUST, Wuhan, Hubei, China.ORCID 0000-0002-8498-8241
An-Yuan GuoCollege of Life Science and Technology, Huazhong University of Science and Technology (HUST), Wuhan, Hubei, China.
Aifang ChengDepartment of Biomedical Sciences, Faculty of Health Sciences, University of Macau, Taipa, Macao SAR, China.
Luoying ZhangCollege of Life Science and Technology, Huazhong University of Science and Technology (HUST), Wuhan, Hubei, China.
Jun LiuDepartment of Neurology & Institute of Neurology, Ruijin Hospital affiliated to Medical College of the Shanghai Jiao Tong University, Shanghai, China. jly0520@hotmail.com.
Man JiangDepartment of Physiology, School of Basic Medicine and Tongji Medical College, HUST, Wuhan, Hubei, China. manjiang@hust.edu.cn.ORCID 0000-0002-0470-8722
Beisha TangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China. bstang7398@163.com.ORCID 0000-0003-2120-1576
Jing Yu LiuInstitute of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, China. liujy@ion.ac.cn.

Funding

China Postdoctoral Science Foundation 2024M762007China Postdoctoral Science Foundation GZB20240453National Natural Science Foundation of China (National Science Foundation of China) U20A20355
6 · The paper itself

Abstract

Essential tremor (ET) is a common neurological disease that is characterized by 4-12 Hz kinetic tremors of the upper limbs and high genetic heterogeneity. Although numerous candidate genes and loci have been reported, the etiology of ET remains unclear. A novel ET-related gene was initially identified in a five-generation family via whole-exome sequencing, and other variants were identified in 772 familial ET probands and 640 sporadic individuals via whole-genome sequencing. Among 71 (9.18%) Chinese families and 47 (7.34%) sporadic individuals with ET, we identified 15 types of protein-altering variants in solute carrier family 38 member 6 (SLC38A6), which encodes sodium-coupled neutral amino acid transporter 6 (SNAT6) and is inherited in an autosomal dominant pattern. Over-expression of mutant SNAT6 for the three most common human mutations (p.Y108F, p.M281T and p.G318S) significantly impaired L-arginine (L-Arg) uptake in HeLa cells. The homozygous Slc38a6 deletion mice (Slc38a6

Indexed as

Essential TremorLoss of Function MutationAgedAnimalsArginineFemaleHeLa CellsHumansMaleMiceMice, KnockoutMiddle AgedPedigreePurkinje CellsArginine

Identifiers

PMID40931016
PMCPMC12423332

What OpenQuestion holds

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Registered trials

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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.