Evidence map›Paper›PMID 38589651›Full record

ArticleEMBO molecular medicine2024

A missense mutation in human INSC causes peripheral neuropathy.

Jui-Yu Yeh, Hua-Chuan Chao, Cheng-Li Hong, Yu-Chien Hung, Fei-Yang Tzou, Cheng-Tsung Hsiao, Jeng-Lin Li, Wen-Jie Chen, Cheng-Ta Chou, Yu-Shuen Tsai and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in EMBO molecular medicine, 2024. 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

17 authors.

Jui-Yu YehGraduate Institute of Physiology, National Taiwan University, Taipei, Taiwan.ORCID http://orcid.org/0000-0003-2860-5987
Hua-Chuan ChaoDepartment of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.
Cheng-Li HongGraduate Institute of Physiology, National Taiwan University, Taipei, Taiwan.
Yu-Chien HungGraduate Institute of Physiology, National Taiwan University, Taipei, Taiwan.
Fei-Yang TzouGraduate Institute of Physiology, National Taiwan University, Taipei, Taiwan.ORCID http://orcid.org/0000-0003-3463-1436
Cheng-Tsung HsiaoDepartment of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.
Jeng-Lin LiPh.D. Program in Translational Medicine, National Taiwan University and Academia Sinica, Taipei, Taiwan.ORCID http://orcid.org/0000-0002-1317-2085
Wen-Jie ChenInstitute of Molecular Biology, Academia Sinica, Taipei, Taiwan.
Cheng-Ta ChouDepartment of Neurology, Neurological Institute, Taichung Veterans General Hospital, Taichung, Taiwan.ORCID http://orcid.org/0000-0003-2930-7279
Yu-Shuen TsaiCancer and Immunology Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Yi-Chu LiaoDepartment of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.ORCID http://orcid.org/0000-0002-9644-2086
Yu-Chun LinInstitute of Molecular Medicine, National Tsing Hua University, HsinChu, Taiwan.ORCID http://orcid.org/0000-0002-9629-7560
Suewei LinInstitute of Molecular Biology, Academia Sinica, Taipei, Taiwan.ORCID http://orcid.org/0000-0001-7079-7818
Shu-Yi HuangDepartment of Medical Research, National Taiwan University Hospital, Taipei, Taiwan.ORCID http://orcid.org/0000-0002-3522-0500
Marina KennersonNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Concord, NSW, Australia.
Yi-Chung LeeDepartment of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan. ycli@vghtpe.gov.tw.ORCID http://orcid.org/0000-0003-0102-164X
Chih-Chiang ChanGraduate Institute of Physiology, National Taiwan University, Taipei, Taiwan. chancc1@ntu.edu.tw.ORCID http://orcid.org/0000-0003-2626-3805

Funding

National Health Research Institutes (NHRI) EX112-11228NINational Science and Technology Council (NSTC) 109-2314-B-075-044-MY3National Science and Technology Council (NSTC) 111-2320-B-002-049-MY3National Science and Technology Council (NSTC) 112-2314-B-002 -016National Science and Technology Council (NSTC) 112-2314-B-075 -034 -MY3National Science and Technology Council (NSTC) 112-2628-B-007-004National Science and Technology Council (NSTC) 112-2636-B-007-008National Taiwan University () 112L895403NYMU | Brain Research Center, National Yang-Ming University (NYMU-BRC) The Featured Areas Research Center Program
6 · The paper itself

Abstract

PAR3/INSC/LGN form an evolutionarily conserved complex required for asymmetric cell division in the developing brain, but its post-developmental function and disease relevance in the peripheral nervous system (PNS) remains unknown. We mapped a new locus for axonal Charcot-Marie-Tooth disease (CMT2) and identified a missense mutation c.209 T > G (p.Met70Arg) in the INSC gene. Modeling the INSC

Indexed as

Adaptor Proteins, Signal TransducingCharcot-Marie-Tooth DiseaseCytoskeletal ProteinsMutation, MissenseAnimalsCell Cycle ProteinsDisease Models, AnimalDrosophilaDrosophila ProteinsHumansNuclear ProteinsPeripheral Nervous System DiseasesTubulinAdaptor Proteins, Signal TransducingCell Cycle ProteinsCytoskeletal ProteinsDrosophila Proteinsinsc protein, DrosophilaINSC protein, humanMAD2L1BP protein, humanNuclear ProteinsTubulinCharcot–Marie–Tooth Neuropathy Type 2InscuteableMicrotubule-Stabilizing AgentsNecrosisProprioception

Identifiers

PMID38589651
PMCPMC11099080

What OpenQuestion holds

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Registered trials

None linked

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.