ArticleFrontiers in cellular neuroscience2017
Human iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks.
Article in Frontiers in cellular neuroscience, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Stem cell models in ataxia-telangiectasia.Neural regeneration research · 2026Article
- Roots of Progress: Uncovering Cerebellar Ataxias Using iPSC Models.Biomedicines · 2025Review
- MIXL1 activation in endoderm differentiation of human induced pluripotent stem cells.Stem cell reports · 2025Article
- ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia.Cell reports · 2024Article
- Article
- The Proteasome Activator PA200/PSME4: An Emerging New Player in Health and Disease.Biomolecules · 2022Review
- Altered temporal sequence of transcriptional regulators in the generation of human cerebellar granule cells.eLife · 2021Article
- Atm deficiency in the DNA polymerase β null cerebellum results in cerebellar ataxia and Itpr1 reduction associated with alteration of cytosine methylation.Nucleic acids research · 2020Article
- Human iPSC-Derived Neuronal Cells FromFrontiers in neuroscience · 2020Article
- Review
- Next-generation disease modeling with direct conversion: a new path to old neurons.FEBS letters · 2019Review
- The Use of Stem Cell-Derived Neurons for Understanding Development and Disease of the Cerebellum.Frontiers in neuroscience · 2018Article
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Authors and funding
10 authors.
Funding
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Abstract
Ataxia-telangiectasia (A-T) is a rare genetic disorder caused by loss of function of the ataxia-telangiectasia-mutated kinase and is characterized by a predisposition to cancer, pulmonary disease, immune deficiency and progressive degeneration of the cerebellum. As animal models do not faithfully recapitulate the neurological aspects, it remains unclear whether cerebellar degeneration is a neurodevelopmental or neurodegenerative phenotype. To address the necessity for a human model, we first assessed a previously published protocol for the ability to generate cerebellar neuronal cells, finding it gave rise to a population of precursors highly enriched for markers of the early hindbrain such as EN1 and GBX2, and later more mature cerebellar markers including PTF1α, MATH1, HOXB4, ZIC3, PAX6, and TUJ1. RNA sequencing was used to classify differentiated cerebellar neurons generated from integration-free A-T and control induced pluripotent stem cells. Comparison of RNA sequencing data with datasets from the Allen Brain Atlas reveals
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