Cargando…

Structural investigation of Rett-inducing MeCP2 mutations()

X-ray structure of methyl-CpG binding domain (MBD) of MeCP2, an intrinsically disordered protein (IDP) involved in Rett syndrome, offers a rational basis for defining the spatial distribution for most of the sites where mutations responsible of Rett syndrome, RTT, occur. We have ascribed pathogenici...

Descripción completa

Detalles Bibliográficos
Autores principales:	Spiga, Ottavia, Gardini, Simone, Rossi, Nicole, Cicaloni, Vittoria, Pettini, Francesco, Niccolai, Neri, Santucci, Annalisa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Chongqing Medical University 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411616/ https://www.ncbi.nlm.nih.gov/pubmed/30906830 http://dx.doi.org/10.1016/j.gendis.2018.09.005

Ejemplares similares

Rett mutations attenuate phase separation of MeCP2
por: Fan, Chunyan, et al.
Publicado: (2020)

MeCP2 mutations: progress towards understanding and treating Rett syndrome
por: Shah, Ruth R., et al.
Publicado: (2017)

The Molecular Functions of MeCP2 in Rett Syndrome Pathology
por: Sharifi, Osman, et al.
Publicado: (2021)

MeCP2: The Genetic Driver of Rett Syndrome Epigenetics
por: Good, Katrina V., et al.
Publicado: (2021)

Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage
por: Collins, Bridget E, et al.
Publicado: (2022)

Molecular Context-Dependent Effects Induced by Rett Syndrome-Associated Mutations in MeCP2
por: Ortega-Alarcon, David, et al.
Publicado: (2020)

MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome
por: Takeguchi, Ryo, et al.
Publicado: (2019)

MeCP2 Deficiency in Neuroglia: New Progress in the Pathogenesis of Rett Syndrome
por: Jin, Xu-Rui, et al.
Publicado: (2017)

Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome
por: Kahanovitch, Uri, et al.
Publicado: (2019)

MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives
por: Cuddapah, Vishnu Anand, et al.
Publicado: (2015)

Structural, Dynamical, and Energetical Consequences of Rett Syndrome Mutation R133C in MeCP2
por: Kucukkal, Tugba G., et al.
Publicado: (2015)

Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice
por: Heckman, Laura Dean, et al.
Publicado: (2014)

A novel DNA-binding feature of MeCP2 contributes to Rett syndrome
por: Xu, Xin, et al.
Publicado: (2013)

Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands
por: Bueno, Carlos, et al.
Publicado: (2016)

Radically truncated MeCP2 rescues Rett syndrome-like neurological defects
por: Tillotson, Rebekah, et al.
Publicado: (2017)

ApreciseKUre: an approach of Precision Medicine in a Rare Disease
por: Spiga, Ottavia, et al.
Publicado: (2017)

MeCP2 SUMOylation rescues Mecp2-mutant-induced behavioural deficits in a mouse model of Rett syndrome
por: Tai, Derek J. C., et al.
Publicado: (2016)

Characterization of the MeCP2(R168X) Knockin Mouse Model for Rett Syndrome
por: Wegener, Eike, et al.
Publicado: (2014)

Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders
por: Meng, Xiangling, et al.
Publicado: (2016)

Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome
por: Johnson, B.S., et al.
Publicado: (2017)

Rett Syndrome Mutation MeCP2 T158A Disrupts DNA Binding, Protein Stability and ERP Responses
por: Goffin, Darren, et al.
Publicado: (2011)

Multi-Omics Model Applied to Cancer Genetics
por: Pettini, Francesco, et al.
Publicado: (2021)

Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease
por: Pejhan, Shervin, et al.
Publicado: (2021)

Novel alterations in the epigenetic signature of MeCP2-targeted promoters in lymphocytes of Rett syndrome patients
por: Lilja, Tobias, et al.
Publicado: (2013)

Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome
por: Veeraragavan, Surabi, et al.
Publicado: (2016)

Interplay of LIS1 and MeCP2: Interactions and Implications With the Neurodevelopmental Disorders Lissencephaly and Rett Syndrome
por: Keidar, Liraz, et al.
Publicado: (2019)

Rett syndrome linked to defects in forming the MeCP2/Rbfox/LASR complex in mouse models
por: Jiang, Yan, et al.
Publicado: (2021)

Graded and pan-neural disease phenotypes of Rett Syndrome linked with dosage of functional MeCP2
por: Chen, Xiaoying, et al.
Publicado: (2020)

A novel mutation R190H in the AT-hook 1 domain of MeCP2 identified in an atypical Rett syndrome
por: Zhou, Xiao, et al.
Publicado: (2017)

Bioinformatics Approaches to Predict Mutation Effects in the Binding Site of the Proangiogenic Molecule CD93
por: Cicaloni, Vittoria, et al.
Publicado: (2022)

Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes
por: Nectoux, J, et al.
Publicado: (2010)

Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets
por: Jordan, ChaRandle, et al.
Publicado: (2007)

Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research
por: Zachariah, Robby Mathew, et al.
Publicado: (2012)

MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female rats
por: Patterson, Kelsey C., et al.
Publicado: (2016)

MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female rats
por: Patterson, Kelsey C., et al.
Publicado: (2016)

MeCP2 and Chromatin Compartmentalization
por: Schmidt, Annika, et al.
Publicado: (2020)

Targeted manipulation of heterochromatin rescues MeCP2 Rett mutants and re-establishes higher order chromatin organization
por: Casas-Delucchi, Corella S., et al.
Publicado: (2012)

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome
por: Ward, Christopher S., et al.
Publicado: (2016)

Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes
por: Ross, Paul D., et al.
Publicado: (2016)

Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syndrome mouse model
por: Vermudez, Sheryl Anne D., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_pb5om9vmnrbffgfpq8m15u6taa