n.a – Page 6 – Rett syndrome research – projects, results and publications

Hanefeld variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 7 cases

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

Mutation analysis of the MECP2 gene in patients with Rett syndrome.

June 16, 2021June 29, 2015 by Editorial Team

Neurobehavioral phenotyping of genetically modified mouse models of mental retardation

June 16, 2021June 29, 2015 by Editorial Team

Reference: ISS-NIH 5301/530H Abstract: PROJECT DETAILS beginning: n.a end: n.a Country of research: Italy, US Counry of funding source: United States Funding organization: Bilateral Italy (ISS)ﾗUSA (NIH, Office for rare diseases) Financing: NATIONAL FUNDINGS – 0 € hyperlink

Increased levels of 4HNE-protein plasma adducts in Rett syndrome.

June 16, 2021June 29, 2015 by Editorial Team

Reference: Abstract: Rett syndrome (RTT) is a neurological disorder and a leading cause of mental retardation in females. It is caused by mutations in methyl-CpG-binding protein 2 (MeCP2) gene and more rarely in cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1) genes. Increased oxidative stress (OS) has been documented in MeCP2-RTT patients. Here, … Read more

MeCP2 as a genome-wide modulator: the renewal of an old story.

June 16, 2021June 29, 2015 by Editorial Team

Reference: Abstract: Since the discovery of MeCP2, its functions have attracted the interest of generations of molecular biologists. Its function as a transducer of DNA methylation, the major post-biosynthetic modification found throughout genomes, and its association with the neurodevelopmental disease Rett syndrome highlight its central role as a transcriptional regulator, and, at the same time, … Read more