Evidence map›Paper›PMID 39169623›Full record

ArticleMolecular therapy : the journal of the American Society of Gene Therapy2024

AAV-mediated Stambp gene replacement therapy rescues neurological defects in a mouse model of microcephaly-capillary malformation syndrome.

Meixin Hu, Jun Li, Jingxin Deng, Chunxue Liu, Yingying Liu, Huiping Li, Weijun Feng, Xiu Xu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
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

8 authors.

Meixin HuDepartment of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.
Jun LiInstitute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Ministry of Science and Technology, Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China.
Jingxin DengDepartment of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.
Chunxue LiuDepartment of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.
Yingying LiuInstitute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Ministry of Science and Technology, Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China.
Huiping LiDepartment of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China; Department of Child Health Care, Xiamen Children's Hospital, Children's Hospital of Fudan University at Xiamen, Xiamen 361006, China. Electronic address: lihuiping@fudan.edu.cn.
Weijun FengInstitute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Ministry of Science and Technology, Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China; Fujian Key Laboratory of Neonatal Diseases, Xiamen Key Laboratory of Neonatal Diseases, Xiamen Children's Hospital, Children's Hospital of Fudan University at Xiamen, Xiamen 361006, China. Electronic address: fengweijun@fudan.edu.cn.
Xiu XuDepartment of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China. Electronic address: xuxiu@fudan.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The microcephaly-capillary malformation (MIC-CAP) syndrome is a life-threatening disease caused by biallelic mutations of the STAMBP gene, which encodes an endosomal deubiquitinating enzyme. To establish a suitable preclinical animal model for clinical therapeutic practice, we generated a central nervous system (CNS)-specific Stambp knockout mouse model (Stambp

Indexed as

DependovirusDisease Models, AnimalGenetic TherapyMice, KnockoutMicrocephalyAnimalsBrainEndosomal Sorting Complexes Required for TransportGenetic VectorsHumansMiceVascular MalformationsEndosomal Sorting Complexes Required for TransportAAV therapyMIC-CAP syndromeneuroinflammationneuronal death in hippocampusSTAMBP mutationsubiquitinated protein aggregates

Identifiers

PMID39169623
PMCPMC11573578

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.