Italy

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

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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

Induced pluripotent stem cells as in vitro models for the study of Rett syndrome pathogenesis and identification of therapeutic targets

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Reference: RF-TOS-2008-1225570 Abstract: n.a PROJECT DETAILS  beginning: 2010. end: 2013. Country of research: Italy Counry of funding source: Italy Funding organization: Ministry of Health, Programma per la Ricerca Sanitaria 2008: attivit? di ricerca sulle Malattie Rare Financing: NATIONAL FUNDINGS – 164 120 € hyperlink

DHPLC analysis of the MECP2 gene in Italian Rett patients

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Reference: Abstract: Rett Syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which almost exclusively affects girls, with an estimated prevalence of one in 10,000-15,000 female births. Mutations in the methyl CpG binding protein 2 gene (MECP2) have been identified in roughly 75% of classical Rett girls. The vast majority of Rett cases (99%) are sporadic … Read more

Functional characterization of proteins MECP2 and ACSL4 “as part of the project” post-genomic strategies for the study and prevention of X-linked mental retardation

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Reference: neri Abstract: n.a PROJECT DETAILS  beginning: 2006. end: 2007. Country of research: Italy Counry of funding source: Italy Funding organization: PRIN projects Ministry of Education, Universities and Research MIUR Financing: NATIONAL FUNDINGS – 51 510 € hyperlink

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