Editorial Team – Page 35 – Rett syndrome research – projects, results and publications

Modulators of bio-aminergic pathways for the treatment of Rett syndrome

June 16, 2021June 29, 2015 by Editorial Team

Reference: ANRn.a.8-BIOTn.a.020 Abstract: Rett syndrome (RS) is a severe neurological disorder caused by a mutation in the MECP2 gene transcriptional repressor. SR girls develop normally until 6-18 months later, they suffer neurological symptoms and severe respiratory ?irregularities. So far no treatment is available. Previously, using a mouse model of SR, we have shown that disruption … Read more

Molecular biologickáanalýza MECP2 gene in patients with Rettovýmsyndromem

June 16, 2021June 29, 2015 by Editorial Team

Reference: 301/01/P068 Abstract: ProjektGA CR 301/01/P068 focused on molecular-biological analysis MeCP2genu. Its defect leads to clinical manifestations of Rett syndrome (RS) (OMIM312750), which is the second most common cause of mental retardation dívek.Dědičnost RS gonosomal dominant with incidence approximately 1 to 000 10000-15; vast majority of mutations created de novo. MECP2 gene, described in 1999, … Read more

Molecular determinants of Rett syndrome and diseases caused by MECP2 gene

June 16, 2021June 29, 2015 by Editorial Team

Reference: na Abstract: n.a PROJECT DETAILS beginning: 2004. end: 2005. Country of research: Italy Counry of funding source: Italy Funding organization: MIUR FIRB Financing: NATIONAL FUNDINGS – 130 000 € hyperlink

Investigating the Molecular Basis of FSHD

June 16, 2021June 29, 2015 by Editorial Team

Reference: R01 NS047584n.a.1- Tupler, Rossella Abstract: n.a PROJECT DETAILS beginning: 2003. end: 2008. Country of research: Italy Counry of funding source: United States Funding organization: National Institutes of Health; US Financing: NATIONAL FUNDINGS – 853 913 € hyperlink

Joint project: European Rett Syndrome Network (EURORETT).ﾠShare TU Darmstadt.ﾠ

June 16, 2021June 29, 2015 by Editorial Team

Reference: 01GM0811 TIB Abstract: Although the biochemical function of the proteins involved in this disorder is known, the pathophysiological mechanisms are still mysterious, stressing the need for synergy and multidisciplinarity. Because Rett syndrome could be reversible, it is a priority to combine all possible approaches understand disease mechanisms. This could allow the rapid translation of … Read more