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Structural, Dynamical, and Energetical Consequences of Rett Syndrome Mutation R133C in MeCP2

Tugba G. Kucukkal, Emil Alexov
2015 Computational and Mathematical Methods in Medicine  
The structural, dynamical, and energetical consequences of R133C mutation were investigated in detail at the atomic resolution.  ...  Comparative molecular dynamics simulations of R133C mutant and wild-type MBD have been performed to understand the impact of the mutation on structure, dynamics, and interactions of the protein and subsequently  ...  reveal important consequences of the mutation in structure, dynamics, and interactions of MBD of MeCP2.  ... 
doi:10.1155/2015/746157 pmid:26064184 pmcid:PMC4431600 fatcat:e4fbuk7ol5hwhmqxwap66tjdhq

Tyr120Asp mutation alters domain flexibility and dynamics of MeCP2 DNA binding domain leading to impaired DNA interaction: Atomistic characterization of a Rett syndrome causing mutation

Ilda D'Annessa, Anna Gandaglia, Elena Brivio, Gilda Stefanelli, Angelisa Frasca, Nicoletta Landsberger, Daniele Di Marino
2018 Biochimica et Biophysica Acta - General Subjects  
Mutations in the X-linked MECP2 gene represent the main origin of Rett syndrome, causing a profound intellectual disability in females.  ...  Herein, we use molecular dynamics simulations to obtain a detailed view of the dynamics of WT and mutated MBD in the presence and absence of DNA.  ...  The importance of this X-linked gene emerged in 1999, when several patients affected by Rett syndrome (RTT) were found mutated in MECP2 (3) .  ... 
doi:10.1016/j.bbagen.2018.02.005 pmid:29428602 fatcat:7eyalkm43zcujnmjkxdokjdvhq

Computational and Experimental Approaches to Reveal the Effects of Single Nucleotide Polymorphisms with Respect to Disease Diagnostics

Tugba Kucukkal, Ye Yang, Susan Chapman, Weiguo Cao, Emil Alexov
2014 International Journal of Molecular Sciences  
Here we review existing methods and techniques to study and predict the effects of DNA mutations from three different perspectives: in silico, in vitro and in vivo.  ...  DNA mutations are the cause of many human diseases and they are the reason for natural differences among individuals by affecting the structure, function, interactions, and other properties of DNA and  ...  Author Contributions Tugba Kucukkal and Emil Alexov wrote the in silico Section; Ye Yang and Weiguo Cao wrote the in vitro Section and Susan Chapman wrote the in vivo Section.  ... 
doi:10.3390/ijms15069670 pmid:24886813 pmcid:PMC4100115 fatcat:wvilvvfkmfbz3owuys6qjz4npq

The intervening domain from MeCP2 enhances the DNA affinity of the methyl binding domain and provides an independent DNA interaction site

Rafael Claveria-Gimeno, Pilar M. Lanuza, Ignacio Morales-Chueca, Olga C. Jorge-Torres, Sonia Vega, Olga Abian, Manel Esteller, Adrian Velazquez-Campoy
2017 Scientific Reports  
Mutations in MeCP2 are linked to Rett syndrome, the leading cause of intellectual retardation in girls and causing mental, motor and growth impairment.  ...  Rett syndrome (RTT) is an example of dysregulation of transcription and chromatin structure with severe consequences on neuronal development, differentiation and maturation.  ...  Luque-Ortega (Laboratory of Analytical Ultracentrifugation and Macromolecular Interactions, CIB-CSIC, Madrid) for his assistance in AUC assays and analysis, and Servicio General de Apoyo a la Investigación-SAI  ... 
doi:10.1038/srep41635 pmid:28139759 pmcid:PMC5282554 fatcat:m2zmwfjpqvdwvdwlltxak6xdzy

Development of an ECLIA based assay for MeCP2 protein

Anna Katharina Schönegger
2017 unpublished
as well as other investigations in the course of treating Rett syndrome.  ...  Rett syndrome is a severe neurodevelopmental disease, occurring in one out of every 10.000 female births.  ...  [Percy, 2016] What we know today is that 80% of Rett syndrome patients show a dominantly acting mutation in the coding region of the X-linked MeCP2 gene, revealing this as the main cause of RTT.  ... 
doi:10.25365/thesis.47114 fatcat:dmxa65afsrb6jnnx2gpzz3llf4