Evidence map›Paper›PMID 37488868›Full record

ArticleNeural regeneration research2024

The

Sen Zeng, Honglan Yang, Binghao Wang, Yongzhi Xie, Ke Xu, Lei Liu, Wanqian Cao, Xionghao Liu, Beisha Tang, Mujun Liu and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neural regeneration research, 2024. 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
0.9field-weighted citation impact, top 23% 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, 3 citations in OpenAlex.

  1. NovelFrontiers in medicine · 2026
    Article
  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

11 authors at 3 institutions in 1 country.

Sen ZengDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan Province, China.
Honglan YangDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan Province, China.
Binghao WangDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Yongzhi XieDepartment of Radiology, The Third Xiangya Hospital, Central South University, Changsha, Hunan Province, China.
Ke XuDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan Province, China.
Lei LiuDepartment of Neurology; Health Management Center, The Third Xiangya Hospital, Central South University, Changsha, Hunan Province, China.
Wanqian CaoDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan Province, China.
Xionghao LiuCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan Province, China.
Beisha TangNational Clinical Research Center for Geriatric Disorders, Central South University, Changsha, Hunan Province, China.
Mujun LiuDepartment of Cell Biology, School of Life Sciences, Central South University, Changsha, Hunan Province, China.
Ruxu ZhangDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan Province, China.
Third Xiangya Hospital · CNCentral South University · CNFirst Affiliated Hospital of Zhengzhou University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in the microrchidia CW-type zinc finger protein 2 (MORC2) gene are the causative agent of Charcot-Marie-Tooth disease type 2Z (CMT2Z), and the hotspot mutation p.S87L is associated with a more severe spinal muscular atrophy-like clinical phenotype. The aims of this study were to determine the mechanism of the severe phenotype caused by the MORC2 p.S87L mutation and to explore potential treatment strategies. Epithelial cells were isolated from urine samples from a spinal muscular atrophy (SMA)-like patient (MORC2 p.S87L), a CMT2Z patient (MORC2 p.Q400R), and a healthy control and induced to generate pluripotent stem cells, which were then differentiated into motor neuron precursor cells. Next-generation RNA sequencing followed by KEGG pathway enrichment analysis revealed that differentially expressed genes involved in the PI3K/Akt and MAPK/ERK signaling pathways were enriched in the p.S87L SMA-like patient group and were significantly downregulated in induced pluripotent stem cells. Reduced proliferation was observed in the induced pluripotent stem cells and motor neuron precursor cells derived from the p.S87L SMA-like patient group compared with the CMT2Z patient group and the healthy control. G0/G1 phase cell cycle arrest was observed in induced pluripotent stem cells derived from the p.S87L SMA-like patient. MORC2 p.S87L-specific antisense oligonucleotides (p.S87L-ASO-targeting) showed significant efficacy in improving cell proliferation and activating the PI3K/Akt and MAPK/ERK pathways in induced pluripotent stem cells. However, p.S87L-ASO-targeting did not rescue proliferation of motor neuron precursor cells. These findings suggest that downregulation of the PI3K/Akt and MAPK/ERK signaling pathways leading to reduced cell proliferation and G0/G1 phase cell cycle arrest in induced pluripotent stem cells might be the underlying mechanism of the severe p.S87L SMA-like phenotype. p.S87L-ASO-targeting treatment can alleviate disordered cell proliferation in the early stage of pluripotent stem cell induction.

Indexed as

antisense oligonucleotidescell cycle arrestCharcot-Marie-Tooth disease 2Zinduced pluripotent stem cellsMAPK/ERKPI3K/Aktproliferationspinal muscular atrophy-like

Identifiers

PMID37488868
PMCPMC10479865
OpenAlexW4378217634

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
Read underepoch 390

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.