Evidence map›Paper›PMID 42134333›Full record

ArticleCell reports. Medicine2026

Therapeutic activity of a hematopoietic stem cell-delivered cell-penetrating frataxin in Friedreich's ataxia models.

Jeffrey Pido-Lopez, Shefta E Moula, Enas Shaban, Konstantinos Stamatiou, Bethan J Critchley, Thomas E Whittaker, Stina Svensson, Sara Anjomani-Virmouni, Ester Kalef-Ezra, Lucinda Carr and 7 more

Abstract read
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Article in Cell reports. Medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Jeffrey Pido-LopezCentre for Inflammation Research and Translational Medicine, Brunel, University of London, London UB8 3PH, UK.
Shefta E MoulaInfection, Immunity and Inflammation Research and Teaching Department, University College London, Great Ormond Street Institute of Child Health, London, UK.
Enas ShabanCentre for Inflammation Research and Translational Medicine, Brunel, University of London, London UB8 3PH, UK.
Konstantinos StamatiouCentre for Inflammation Research and Translational Medicine, Brunel, University of London, London UB8 3PH, UK.
Bethan J CritchleyInfection, Immunity and Inflammation Research and Teaching Department, University College London, Great Ormond Street Institute of Child Health, London, UK.
Thomas E WhittakerInfection, Immunity and Inflammation Research and Teaching Department, University College London, Great Ormond Street Institute of Child Health, London, UK.
Stina SvenssonInfection, Immunity and Inflammation Research and Teaching Department, University College London, Great Ormond Street Institute of Child Health, London, UK.
Sara Anjomani-VirmouniCentre for Genome Engineering and Maintenance, College of Health, Medicine and Life Sciences, Brunel, University of London, London, UK.
Ester Kalef-EzraCentre for Genome Engineering and Maintenance, College of Health, Medicine and Life Sciences, Brunel, University of London, London, UK.
Lucinda CarrMolecular Neurosciences, Developmental Neurosciences Programme, UCL Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Jane HasselMolecular Neurosciences, Developmental Neurosciences Programme, UCL Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Adrian J ThrasherInfection, Immunity and Inflammation Research and Teaching Department, University College London, Great Ormond Street Institute of Child Health, London, UK.
Manju A KurianMolecular Neurosciences, Developmental Neurosciences Programme, UCL Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Ian A BlairDepartment of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Teerapat RojsajjakulDepartment of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Giorgia SantilliInfection, Immunity and Inflammation Research and Teaching Department, University College London, Great Ormond Street Institute of Child Health, London, UK. Electronic address: g.santilli@ucl.ac.uk.
Arturo SalaCentre for Inflammation Research and Translational Medicine, Brunel, University of London, London UB8 3PH, UK. Electronic address: arturo.sala@brunel.ac.uk.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by a GAA repeat expansion in the frataxin (FXN) gene, leading to reduced frataxin, a protein essential for mitochondrial function. We developed a replacement strategy using a fusion protein containing secretion and cell-penetrating sequences fused to the frataxin precursor. In vitro studies confirmed secretion, cellular penetration, mitochondrial localization, and rescue of biochemical defects and apoptosis in cells from patients with FRDA. The therapeutic cDNA was cloned into a lentiviral vector and used to transduce hematopoietic stem and progenitor cells (HSPCs) from YG8sR mice, an FRDA model. Autologous transplantation of modified HSPCs produced stable peptide secretion in the bloodstream and delayed the onset of motor coordination symptoms, accompanied by improved biochemical and anatomical parameters. Patient-derived CD34

Indexed as

Cell-Penetrating PeptidesFriedreich AtaxiaHematopoietic Stem CellsHematopoietic Stem Cell TransplantationIron-Binding ProteinsAnimalsDisease Models, AnimalFrataxinGenetic TherapyHumansMiceMitochondriaCell-Penetrating PeptidesFrataxinIron-Binding Proteinsataxiabehavioural assayscell and gene therapycell-penetrating peptidefrataxinhematopoietic stem cellsmitochondriasecretory peptide.transplantation

Identifiers

PMID42134333
PMCPMC13293935

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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.