Evidence map›Paper›PMID 26943047›Full record

ArticleOncotarget2016

CLEC4C p.K210del variant causes impaired cell surface transport in plasmacytoid dendritic cells of amyotrophic lateral sclerosis.

Su Min Lim, Young-Eun Kim, Won Jun Choi, Ki-Wook Oh, Min-Young Noh, Min-Soo Kwon, Minyeop Nahm, Namshin Kim, Chang-Seok Ki, Seung Hyun Kim

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 40% of its field
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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. 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

10 authors at 7 institutions in 2 countries.

Su Min LimDepartment of Translational Medicine, Graduate School of Biomedical Science and Engineering, Hanyang University, Seoul, Republic of Korea.
Young-Eun KimGreen Cross Genome, Yongin, Republic of Korea.
Won Jun ChoiDepartment of Neurology, Sheikh Khalifa Specialty Hospital, Ras Al Khaimah, United Arab Emirates.
Ki-Wook OhDepartment of Neurology, College of Medicine, Hanyang University, Seoul, Republic of Korea.
Min-Young NohCell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea.
Min-Soo KwonDepartment of Pharmacology, School of Medicine, CHA University, CHA Bio Complex, Seongnam, Republic of Korea.
Minyeop NahmCell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea.
Namshin KimEpigenomics Research Center Genome Institute, Korea Research Institute of Bioscience and Biotechnology, Daejeon, Republic of Korea.
Chang-Seok KiDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Seung Hyun KimDepartment of Translational Medicine, Graduate School of Biomedical Science and Engineering, Hanyang University, Seoul, Republic of Korea.
Hanyang University Seoul Hospital · KRCHA University · KRGreen Cross (South Korea) · KRHanyang University · KRKorea Research Institute of Bioscience and Biotechnology · KRSamsung Medical Center · KRShaikh Khalifa Medical City · AE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The type II C-type lectin CLEC4C is a transmembrane protein selectively expressed on plasmacytoid dendritic cells (PDCs). Although its mechanism of action remains unclear, triggering of the extracellular C-terminal C-type carbohydrate recognition region of CLEC4C regulates the secretion of proinflammatory cytokines and type I IFNs in PDCs. Applying whole-exome sequencing in a patient with juvenile amyotrophic lateral sclerosis (ALS) and both healthy parents, we identified a de novo CLEC4C variant (c.629_631delAGA; p.Lys210del). In this study, we report that the deletion of a lysine residue at the extracellular region of CLEC4C yields a C-terminal dilysine motif that results in endoplasmic reticulum (ER) retention of the protein in transfected HeLa and Jurkat T lymphoma cell models. As a consequence, a decrease in the surface expression of CLEC4C and the ER localization of the mutant construct were observed. Furthermore, depletion of the cell surface CLEC4C level was also observed in the patient PDCs, further suggesting that the variant p.Lys210del CLEC4C may contribute to juvenile ALS susceptibility.

Indexed as

Amyotrophic Lateral SclerosisDendritic CellsFemaleHumansLectins, C-TypeMaleMembrane GlycoproteinsMutationPedigreeProtein TransportReceptors, ImmunologicYoung AdultCLEC4C protein, humanLectins, C-TypeMembrane GlycoproteinsReceptors, Immunologicamyotrophic lateral sclerosisC-type lectindilysine motifER retentionGerotargetwhole-exome sequencing

Identifiers

PMID26943047
PMCPMC5041881
OpenAlexW2290288388

What OpenQuestion holds

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LicenceCC BY
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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.