in vitro functional study – Page 2 – Rett syndrome research

Study of the action of the complex moderating ENA / VASP on synaptic defect induced by mutation of MeCP2 in neurons obtained from mice and induced pluripotent stem cells (iPSCs) derived from patients.

June 16, 2021June 29, 2015 by Editorial Team

Reference: 1 Abstract: The central hypothesis that there is a tendency to evaluate this project is that the mechanisms that regulate actin polymerization-dependent proteins of the ENA / VASP are able to modulate the effects of the mutation of MeCP2. In the case of positive results, then you might investigate whether a similar phenomenon also … Read more

Study of synaptic and neuronal physiological alterations in the MeCP2 gene deficient animals models of Rett syndrome

June 16, 2021June 29, 2015 by Editorial Team

Reference: ANRn.a.6-NEURn.a.003 Abstract: PROJECT SUMMARY – Scientific Background and Objectives Mutations in the gene encoding the protein MeCP2, a transcriptional regulator binding methylated DNA, are causing neurological disorders – including Rett syndrome (RTT) – characterized by an apparently brain development normal. The mice with truncated versions of MeCP2 show similar neurological deficits in patients RTT. … Read more

The role of synaptic excitation and inhibition in the RETT syndrome (B11)

June 16, 2021June 29, 2015 by Editorial Team

Reference: B11 – Subproject to SFB 665: Developmental disorders in the nervous system Abstract: PROJECT DETAILS beginning: 2009. end: n.a Country of research: Germany Counry of funding source: Germany Funding organization: GermanﾠResearch Foundation Financing: NATIONAL FUNDINGS – 0 € hyperlink

Therapeutic approaches of Rett syndrome: development of human cell models and high-throughput screening of chemical molecules in order to identify new subtsances likely to induce readthrough of a stop codon

June 16, 2021June 29, 2015 by Editorial Team

Reference: ANRn.a.6-MRARn.a.003 Abstract: Rett syndrome (RTT) is a neurodevelopmentale dominant X-linked disease affecting almost exclusively girls. Significant progress was the discovery of mutations in the MECP2 gene in over 90% of RTT patients. In recent years, we have developed a French consortium and determined the spectrum of mutations MECP2. We have shown that the four … Read more

Understand and address the deficits of neuronal transport in MeCP2-pathies

June 16, 2021June 29, 2015 by Editorial Team

Reference: ANR-12n.a.003-BSV1 Abstract: The MeCP2-pathies represent a field of particularly dynamic and competitive research in the field of intellectual disabilities related to the X chromosome Rett syndrome (RTT) is the prototype of these diseases and account for 10% of cases of mental retardation of genetic origin in women. The causative gene is Mecp2 encoding a … Read more