Evidence map›Paper›PMID 34031815›Full record

ReviewStem cell reviews and reports2022

Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias.

Marina P Hommersom, Ronald A M Buijsen, Willeke M C van Roon-Mom, Bart P C van de Warrenburg, Hans van Bokhoven

Open access · hybridAbstract readReview
In one paragraph

Review in Stem cell reviews and reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.0field-weighted citation impact, top 28% 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

9 citing papers in PubMed, 15 citations in OpenAlex.

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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

5 authors at 2 institutions in 1 country.

Marina P HommersomDepartment of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.ORCID 0000-0002-3238-9693
Ronald A M BuijsenDepartment of Human Genetics, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands.ORCID 0000-0002-9722-8110
Willeke M C van Roon-MomDepartment of Human Genetics, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands.ORCID 0000-0002-3035-0533
Bart P C van de Warrenburg *Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands. Bart.vandeWarrenburg@radboudumc.nl.ORCID 0000-0003-4412-1616
Hans van Bokhoven *Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands. hans.vanbokhoven@radboudumc.nl.ORCID 0000-0002-2153-9254
Radboud University Nijmegen · NLLeiden University Medical Center · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dominant spinocerebellar ataxias (SCAs) constitute a large group of phenotypically and genetically heterogeneous disorders that mainly present with dysfunction of the cerebellum as their main hallmark. Although animal and cell models have been highly instrumental for our current insight into the underlying disease mechanisms of these neurodegenerative disorders, they do not offer the full human genetic and physiological context. The advent of human induced pluripotent stem cells (hiPSCs) and protocols to differentiate these into essentially every cell type allows us to closely model SCAs in a human context. In this review, we systematically summarize recent findings from studies using hiPSC-based modelling of SCAs, and discuss what knowledge has been gained from these studies. We conclude that hiPSC-based models are a powerful tool for modelling SCAs as they contributed to new mechanistic insights and have the potential to serve the development of genetic therapies. However, the use of standardized methods and multiple clones of isogenic lines are essential to increase validity and reproducibility of the insights gained.

Indexed as

Induced Pluripotent Stem CellsSpinocerebellar AtaxiasAnimalsCerebellumGenetic TherapyHumansReproducibility of ResultsAtaxiaCerebellumDisease modellingInduced pluripotent stem cellsNeuronsSpinocerebellar ataxia

Identifiers

PMID34031815
PMCPMC8930896
OpenAlexW3165429178

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.