Editorial Team – Page 46 – Rett syndrome research – projects, results and publications

Characterization of neuronal activity-dependent gene transcription regulation in human iPSC-derived neurons

June 16, 2021June 29, 2015 by Editorial Team

Reference: MJD350 Abstract: Cellular and molecular studies of the human brain are mostly performed on postmortem tissue or animal models. Recently however, induced pluripotent cell (iPSCs) technology has become a valuable tool that enables studies on live human iPSC-derived neurons, thus providing an alternative approach with clear advantages over animal models or postmortem tissue for … Read more

Clinical and molecular investigation in an unusual Rett Syndrome case

June 16, 2021June 29, 2015 by Editorial Team

Reference: Abstract: PROJECT DETAILS beginning: n.a end: n.a Country of research: Italy Counry of funding source: Italy Funding organization: National Research Council Financing: NATIONAL FUNDINGS – 0 € hyperlink

Cellular Mechanisms and Therapies for Rett Syndrome

June 16, 2021June 29, 2015 by Editorial Team

Reference: 248284 Abstract: Rett Syndrome (RTT) is an X-linked neuro-developmental disorder and the leading known genetic cause of autism in girls. RTT is characterized by normal early development followed by cognitive, motor and language regression. Mutations in the X-linked MECP2 (methyl-CpG binding protein 2) gene account for at least 80% of RTT cases. In mouse … Read more

The congenital variant of Rett syndrome: clinical description and the autonomic nervous system

June 16, 2021June 29, 2015 by Editorial Team

Reference: Abstract: Introduction.ﾠRett syndrome (RTT) is a neurodevelopmental disorder, which is characterized by congenital variant early psychomotor retardation, hypotonia, abnormal EEG, typical absence of initial asymptomatic period.ﾠMaterials and methods.ﾠSample of 7 children with congenital variant of RTT afferite to “regional reference center of Rett Syndrome” Versilia Hospital and the University of Ferrara from 2006 to … Read more

Partial rescue of Rett syndrome by omega-3 polyunsaturated fatty acids (PUFAs) oil

June 16, 2021June 29, 2015 by Editorial Team

Reference: Abstract: Evidence of enhanced oxidative stress (O.S.) and lipid peroxidation has been reported in patients with Rett syndrome (RTT), a relatively rare neurodevelopmental disorder progressing in 4-stages, and mainly caused by loss-of-function mutations in the methyl-CpG-binding protein 2. No effective therapy for preventing or arresting the neurologic regression in the disease in its various … Read more