Evidence map›Paper›PMID 39461113›Full record

ArticleStem cell research2024

Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene.

Elizabeth H Jacobs, Jacquelyn Schatzman Raposo, Annarita Scardamaglia, Fowzan S Alkuraya, Shahriar Nafissi, Henry Houlden, Stephan Zuchner, Mario A Saporta

Abstract read
In one paragraph

Article in Stem cell research, 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. [Generation of induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with autosomal recessive CharcotZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2025
    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

8 authors.

Elizabeth H JacobsMedical Scientist Training Program, University of Miami Miller School of Medicine, Miami, FL, USA.
Jacquelyn Schatzman RaposoHussmann Institute for Human Genetics and Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Annarita ScardamagliaDepartment of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom.
Fowzan S AlkurayaDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Shahriar NafissiIranian Neuromuscular Research Center, Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran.
Henry HouldenDepartment of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom.
Stephan ZuchnerHussmann Institute for Human Genetics and Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Mario A SaportaDepartment of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA. Electronic address: mas638@med.miami.edu.

Funding

Mechanisms of Neurodegeneration in CMT4B3: a Complex Pediatric Neurodevelopmental DisorderF30HD113231 · NICHD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Elizabeth Haley Jacobs · 2023 to 2026
$216k
NICHD NIH HHS F30 HD113231
6 · The paper itself

Abstract

Myotubularin-Related Protein 5 (MTMR5) is an inactive, poorly characterized D3-phosphatidylinositol phosphatase. Mutations in MTMR5 have been linked to Charcot-Marie-Tooth Disease Type 4B3 (CMT4B3), a rare, early-onset, recessive peripheral neuropathy. Here, we describe the establishment and validation of three human induced pluripotent stem cell (iPSC) lines derived from unrelated CMT4B3 patients, each harboring homozygous MTMR5/Sbf1 mutations. Current MTMR5

Indexed as

Charcot-Marie-Tooth DiseaseInduced Pluripotent Stem CellsMutationCell LineFemaleHumansMaleProtein Tyrosine Phosphatases, Non-ReceptorProtein Tyrosine Phosphatases, Non-Receptor

Identifiers

PMID39461113
PMCPMC11791841

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.