Rett syndrome: a complex disorder with simple roots
Abstract
Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the X-linked gene MECP2 (methyl-CpG-binding protein 2). Two decades of research have fostered the view that MeCP2 is a multifunctional chromatin protein that integrates diverse aspects of neuronal biology. More recently, studies have focused on specific RTT-associated mutations within the protein. This work has yielded molecular insights into the critical functions of MeCP2 that promise to simplify our understanding of RTT pathology.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Rett syndrome is a pervasive neurodevelopmental disorder caused in most cases by loss-of-function mutations in the X-linked gene MECP2.
“This is now also the case with Rett syndrome, a pervasive neurodevelopmental disorder caused in most cases by loss-of-function mutations in the X-linked gene, methyl-CpG-binding protein 2 (MECP2) (Lombardi et al., 2015; Lyst and Bird, 2015).”
From Suppression of brain cholesterol synthesis in male Mecp2-deficient mice is age dependent and not accompanied by a concurrent change in the rate of fatty acid synthesis (2017) · cites this paper as Lyst and Bird, 2015
No citation lists for this paper
No citation lists for this paper yet — checked again daily.
References 152 · Cited by 353
- Authors
- Lyst, M. J., & Bird, A.
- Affiliations
- Wellcome Centre for Cell Biology (GB)
- Corresponding author
- Bird, Adrian
- Venue
- Nature Reviews Genetics
- Published
- 2015-03-03
- Volume
- 16
- Issue
- 5
- Pages
- 261-275
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2061123111
- Cited by
- 353
- References
- 152
- Citations by year
- 2026: 30 · 2025: 25 · 2024: 25 · 2023: 20 · 2022: 29 · 2021: 38 · 2020: 32 · 2019: 27 · 2018: 31 · 2017: 43 · 2016: 37 · 2015: 16
- FWCI
- 5.35
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust (092076, 091580)
- Rett Syndrome Research Trust
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- Rett syndrome, MeCP2, X-linked mutations, chromatin regulation, neuronal development, pathogenesis, MECP2 mutations
- MeSH terms
- Animals, Brain, Disease Models, Animal, DNA, Gene Expression Regulation, Humans, Models, Neurological, Mutation, Neurons, Protein Binding, Rett Syndrome, Trans-Activators, Mice, Knockout, Mice, Methyl-CpG-Binding Protein 2
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
