Editorial Team – Page 29 – Rett syndrome research – projects, results and publications

Transgenic approaches to understanding astrocyte heterogeneity

June 16, 2021June 29, 2015 by Editorial Team

Reference: BB/L003236/1 Abstract: The cells in our brain are generally divided into two major categories based on their function – neurons (commonly known as nerve cells) and glial cells. Neurons are very important to our body because they process and transmit information to control our actions in daily life, while glial cells are seen as … Read more

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

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

The mildest presentation of Rett syndrome : genotype-phenotype correlation and clinical recognition

June 16, 2021June 29, 2015 by Editorial Team

Reference: RES-145-28-1003 Abstract: PROJECT DETAILS beginning: n.a end: n.a Country of research: United Kingdom Counry of funding source: United Kingdom Funding organization: Economic and Social Research Council Shaping Society Financing: NATIONAL FUNDINGS – 0 € hyperlink

The Hanefeld variant and Gene CDLK5

June 16, 2021June 29, 2015 by Editorial Team

Reference: Abstract: Defined as a neurodevelopmental disorder that affects specific maturational processes of nerve cells, the Rett syndrome (RTT) results in impaired brain development and a consequent severe deficiency of the organism.ﾠThe etiology of the syndrome is due to the alteration of the MECP2 gene or other genes linked to it, located on chromosome X.ﾠThis … Read more