The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome
Open accessAbstract
Rett syndrome (RTT) is one of the most prevalent female neurodevelopmental disorders that cause severe mental retardation. Mutations in methyl CpG binding protein 2 (MeCP2) are mainly responsible for RTT. Patients with classical RTT exhibit normal development until age 6–18 mo, at which point they become symptomatic and display loss of language and motor skills, purposeful hand movements, and normal head growth. Murine genetic models and postmortem human brains have been used to study the disease and enable the molecular dissection of RTT. In this work, we applied a recently developed reprogramming approach to generate a novel in vitro human RTT model. Induced pluripotent stem cells (iPSCs) were derived from RTT fibroblasts by overexpressing the reprogramming factors OCT4, SOX2, KLF4, and MYC. Intriguingly, whereas some iPSCs maintained X chromosome inactivation, in others the X chromosome was reactivated. Thus, iPSCs were isolated that retained a single active X chromosome expressing either mutant or WT MeCP2, as well as iPSCs with reactivated X chromosomes expressing both mutant and WT MeCP2. When these cells underwent neuronal differentiation, the mutant monoallelic or biallelelic RTT-iPSCs displayed a defect in neuronal maturation consistent with RTT phenotypes. Our in vitro model of RTT is an important tool allowing the further investigation of the pathophysiology of RTT and the development of the curative therapeutics.
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Cites
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
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MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
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Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
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Cited by
Epigenetics of Reprogramming to Induced Pluripotency
Papp, B., & Plath, K. (2013) · Cell · doi:10.1016/j.cell.2013.02.043 · Cited by 307
Mellios, N., Feldman, D. A., Sheridan, S. D., Ip, J. P. K., Kwok, S., Amoah, S. K., Rosen, B., Rodriguez, B. A., Crawford, B., Swaminathan, R., et al. (2018) · Molecular Psychiatry · doi:10.1038/mp.2017.86 · Cited by 292
Applications of CRISPR–Cas systems in neuroscience
Heidenreich, M., & Zhang, F. (2016) · Nature Reviews Neuroscience · doi:10.1038/nrn.2015.2 · Cited by 283
Human Models Are Needed for Studying Human Neurodevelopmental Disorders
Zhao, X., & Bhattacharyya, A. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.10.009 · Cited by 192
Gabriele, M., Lopez Tobon, A., D'Agostino, G., & Testa, G. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.12.013 · Cited by 103
Metadata
- Authors
- Kim, K.-Y., Hysolli, E., & Park, I.-H.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2011-08
- Volume
- 108
- Issue
- 34
- Pages
- 14169-14174
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1967801453
- Cited by
- 216
- References
- 10
- FWCI
- 13.70
- Type
- journal article
- Language
- en
- Open access
- bronze
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