Evidence map›Paper›PMID 38876108›Full record

ArticleStem cell reports2024

Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons.

Jakub Scaber, Iona Thomas-Wright, Alex J Clark, Yinyan Xu, Björn F Vahsen, Mireia Carcolé, Ruxandra Dafinca, Lucy Farrimond, Adrian M Isaacs, David L Bennett and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Stem cell reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Review
  5. Drug repurposing in amyotrophic lateral sclerosis (ALS).Expert opinion on drug discovery · 2025
    Review
  6. 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

11 authors.

Jakub ScaberNuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, OX3 9DU Oxford, UK; Kavli Institute for Nanoscience Discovery, University of Oxford, Dorothy Crowfoot Hodgkin Building, OX1 3QU Oxford, UK. Electronic address: jakub.scaber@ndcn.ox.ac.uk.
Iona Thomas-WrightNuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, OX3 9DU Oxford, UK; Kavli Institute for Nanoscience Discovery, University of Oxford, Dorothy Crowfoot Hodgkin Building, OX1 3QU Oxford, UK.
Alex J ClarkNuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, OX3 9DU Oxford, UK; Centre for Neuroscience, Surgery and Trauma, Blizard Institute, Queen Mary University, E1 2AT London, UK.
Yinyan XuNuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, OX3 9DU Oxford, UK; Kavli Institute for Nanoscience Discovery, University of Oxford, Dorothy Crowfoot Hodgkin Building, OX1 3QU Oxford, UK; Chinese Academy of Medical Sciences (CAMS), CAMS Oxford Institute (COI), Nuffield Department of Medicine, University of Oxford, OX3 7FZ Oxford, UK.
Björn F VahsenNuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, OX3 9DU Oxford, UK; Kavli Institute for Nanoscience Discovery, University of Oxford, Dorothy Crowfoot Hodgkin Building, OX1 3QU Oxford, UK.
Mireia CarcoléUK Dementia Research Institute at UCL and Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, WCIN 3BG London, UK.
Ruxandra DafincaNuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, OX3 9DU Oxford, UK; Kavli Institute for Nanoscience Discovery, University of Oxford, Dorothy Crowfoot Hodgkin Building, OX1 3QU Oxford, UK.
Lucy FarrimondNuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, OX3 9DU Oxford, UK; Kavli Institute for Nanoscience Discovery, University of Oxford, Dorothy Crowfoot Hodgkin Building, OX1 3QU Oxford, UK.
Adrian M IsaacsUK Dementia Research Institute at UCL and Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, WCIN 3BG London, UK.
David L BennettNuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, OX3 9DU Oxford, UK.
Kevin TalbotNuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, OX3 9DU Oxford, UK; Kavli Institute for Nanoscience Discovery, University of Oxford, Dorothy Crowfoot Hodgkin Building, OX1 3QU Oxford, UK. Electronic address: kevin.talbot@ndcn.ox.ac.uk.

Funding

Medical Research Council MR/T020113/1Wellcome Trust
6 · The paper itself

Abstract

Induced pluripotent stem cell (iPSC)-derived motor neurons (MNs) from patients with amyotrophic lateral sclerosis (ALS) and the C9ORF72 hexanucleotide repeat expansion (HRE) have multiple cellular phenotypes, but which of these accurately reflect the biology underlying the cell-specific vulnerability of ALS is uncertain. We therefore compared phenotypes due to the C9ORF72 HRE in MNs with sensory neurons (SNs), which are relatively spared in ALS. The iPSC models were able to partially reproduce the differential gene expression seen between adult SNs and MNs. We demonstrated that the typical hallmarks of C9ORF72-ALS, including RNA foci and dipeptide formation, as well as specific axonal transport defects, occurred equally in MNs and SNs, suggesting that these in vitro phenotypes are not sufficient to explain the cell-type selectivity of ALS in isolation.

Indexed as

Amyotrophic Lateral SclerosisAxonal TransportC9orf72 ProteinDNA Repeat ExpansionInduced Pluripotent Stem CellsMotor NeuronsPhenotypeSensory Receptor CellsHumansC9orf72 ProteinC9orf72 protein, humanamyotrophic lateral sclerosisinduced pluripotent stem cellsmotor neuronselective vulnerabilitysensory neuron

Identifiers

PMID38876108
PMCPMC11252479

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.