ArticleProtein & cell2016
Modeling xeroderma pigmentosum associated neurological pathologies with patients-derived iPSCs.
Article in Protein & cell, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 33 citations in OpenAlex.
- Engineering skin microphysiological systems for transdermal drug screening based on strategic model selection and quantitative prediction roadmaps.Materials today. Bio · 2026Review
- Karyotypic Profiling of Induced Pluripotent Stem Cells Derived from a Xeroderma Pigmentosum Group C Patient.Cells · 2025Article
- Exploring the promising potential of induced pluripotent stem cells in cancer research and therapy.Molecular cancer · 2023Review
- Biomarkers of aging.Science China. Life sciences · 2023Review
- Medical care of rare and undiagnosed diseases: Prospects and challenges.Fundamental research · 2022Review
- Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.BMC neurology · 2021Article
- Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A.Frontiers in genetics · 2021Article
- DNA repair fidelity in stem cell maintenance, health, and disease.Biochimica et biophysica acta. Molecular basis of disease · 2020Review
- Rescue of premature aging defects in Cockayne syndrome stem cells by CRISPR/Cas9-mediated gene correction.Protein & cell · 2020Article
- Telomere-dependent and telomere-independent roles of RAP1 in regulating human stem cell homeostasis.Protein & cell · 2019Article
- Basic and translational aging research in China: present and future.Protein & cell · 2019Review
- Chemical screen identifies a geroprotective role of quercetin in premature aging.Protein & cell · 2019Article
- Up-regulation of FOXD1 by YAP alleviates senescence and osteoarthritis.PLoS biology · 2019Article
- Modeling CADASIL vascular pathologies with patient-derived induced pluripotent stem cells.Protein & cell · 2019Article
- Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome.Protein & cell · 2018Article
- ATF6 safeguards organelle homeostasis and cellular aging in human mesenchymal stem cells.Cell discovery · 2018Article
- CRISPR/Cas9-mediated targeted gene correction in amyotrophic lateral sclerosis patient iPSCs.Protein & cell · 2017Article
- Visualization of aging-associated chromatin alterations with an engineered TALE system.Cell research · 2017Article
- Article
- Vitamin C alleviates aging defects in a stem cell model for Werner syndrome.Protein & cell · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Xeroderma pigmentosum (XP) is a group of genetic disorders caused by mutations of XP-associated genes, resulting in impairment of DNA repair. XP patients frequently exhibit neurological degeneration, but the underlying mechanism is unknown, in part due to lack of proper disease models. Here, we generated patient-specific induced pluripotent stem cells (iPSCs) harboring mutations in five different XP genes including XPA, XPB, XPC, XPG, and XPV. These iPSCs were further differentiated to neural cells, and their susceptibility to DNA damage stress was investigated. Mutation of XPA in either neural stem cells (NSCs) or neurons resulted in severe DNA damage repair defects, and these neural cells with mutant XPA were hyper-sensitive to DNA damage-induced apoptosis. Thus, XP-mutant neural cells represent valuable tools to clarify the molecular mechanisms of neurological abnormalities in the XP patients.
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Registered trials
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.