MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 39, Issue 5, Pages 717-728
Publisher
Wiley
Online
2018-02-12
DOI
10.1002/humu.23409
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Biophysical characterization of the basic cluster in the transcription repression domain of human MeCP2 with AT-rich DNA
- (2018) Ameeq Ul Mushtaq et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Disruption of AT-hook 1 domain in MeCP2 protein caused behavioral abnormality in mice
- (2018) Miaojing Xu et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation
- (2017) Taimoor I Sheikh et al. HUMAN MOLECULAR GENETICS
- RettBASE: Rett syndrome database update
- (2017) Rahul Krishnaraj et al. HUMAN MUTATION
- Elevation of Peripheral BDNF Promoter Methylation Predicts Conversion from Amnestic Mild Cognitive Impairment to Alzheimer’s Disease: A 5-Year Longitudinal Study
- (2017) Bing Xie et al. JOURNAL OF ALZHEIMERS DISEASE
- The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability
- (2017) Tarjinder Singh et al. NATURE GENETICS
- Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant
- (2017) Aurore Curie et al. PSYCHIATRIC GENETICS
- A novel mutation R190H in the AT-hook 1 domain of MeCP2 identified in an atypical Rett syndrome
- (2017) Xiao Zhou et al. Oncotarget
- Sequence-specific DNA binding by AT-hook motifs in MeCP2
- (2016) Matthew J. Lyst et al. FEBS LETTERS
- Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
- (2016) Tarjinder Singh et al. NATURE NEUROSCIENCE
- Prevalence of nonaffective psychosis in intellectually disabled clients
- (2016) Hasan Aman et al. PSYCHIATRIC GENETICS
- From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2
- (2016) Taimoor I. Sheikh et al. Scientific Reports
- Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene
- (2015) Meagan R. Pitcher et al. HUMAN MOLECULAR GENETICS
- MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability
- (2015) Laura Bianciardi et al. JOURNAL OF HUMAN GENETICS
- Buccal swab as a reliable predictor for X inactivation ratio in inaccessible tissues
- (2015) Bas de Hoon et al. JOURNAL OF MEDICAL GENETICS
- The Phyre2 web portal for protein modeling, prediction and analysis
- (2015) Lawrence A Kelley et al. Nature Protocols
- The extended AT-hook is a novel RNA binding motif
- (2015) Michael Filarsky et al. RNA Biology
- De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
- (2014) S E McCarthy et al. MOLECULAR PSYCHIATRY
- Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice
- (2014) Laura Dean Heckman et al. eLife
- An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders
- (2013) Steven Andrew Baker et al. CELL
- A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett Syndrome patient
- (2013) Taimoor I Sheikh et al. Orphanet Journal of Rare Diseases
- NIH Image to ImageJ: 25 years of image analysis
- (2012) Caroline A Schneider et al. NATURE METHODS
- The Role of MeCP2 in the Brain
- (2011) Jacky Guy et al. Annual Review of Cell and Developmental Biology
- MeCP2 Rett mutations affect large scale chromatin organization
- (2011) Noopur Agarwal et al. HUMAN MOLECULAR GENETICS
- DNA Methylation Assay for X-Chromosome Inactivation in Female Human iPS Cells
- (2011) Lesli A. Kiedrowski et al. Stem Cell Reviews and Reports
- Rett syndrome: Revised diagnostic criteria and nomenclature
- (2010) Jeffrey L. Neul et al. ANNALS OF NEUROLOGY
- A Novel MECP2 Mutation in a Boy with Neonatal Encephalopathy and Facial Dysmorphism
- (2009) Kristina Jülich et al. JOURNAL OF PEDIATRICS
- HomozygosityMapper--an interactive approach to homozygosity mapping
- (2009) D. Seelow et al. NUCLEIC ACIDS RESEARCH
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started