in vitro functional study

ROLE OF EXCITATION AND INHIBITION IN RETT SYNDROME

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Reference: 5F31MH078678n.a.2 Abstract: MeCP2 is a transcriptional repressor critical for normal neurological function. Rett syndrome (RTT) is a progressive neurodevelopmental disease caused by predominantly loss of function mutations in the X-linked gene encoding the transcriptional repressor, methyl-CpG-binding protein 2 (MECP2) genes. Classic RTT patients exhibit a spectrum of neurological phenotypes that include tremors, ataxia, seizures, … Read more

ROLE OF EXCITATION AND INHIBITION IN RETT SYNDROME

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Reference: 1F31MH078678n.a.1A2 Abstract: MeCP2 is a transcriptional repressor critical for normal neurological function. Rett syndrome (RTT) is a progressive neurodevelopmental disease caused by predominantly loss of function mutations in the X-linked gene encoding the transcriptional repressor, methyl-CpG-binding protein 2 (MECP2) genes. Classic RTT patients exhibit a spectrum of neurological phenotypes that include tremors, ataxia, seizures, … Read more

Partnership research in biotechnology for health (BIOTECS) 2008 project�RETTcure – Modulators of bio-aminergic pathways for the treatment of Rett syndrome

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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 of the respiratory … 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

Multiannual Programme for Research on Rare Diseases (MRAR) (MRAR) 2006 projectﾠRett therapy -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

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Reference: ANRn.a.6-MRARn.a.003 Abstract: Rett syndrome (RTT) is a neurodevelopmentale dominant X-linked disease affecting almost exclusively girls.ﾠSignificant progress was the discovery of mutations in the MECP2 gene in over 90% of RTT patients.ﾠIn recent years, we have developed a French consortium and determined the spectrum of mutations MECP2.ﾠWe have shown that the four most common MECP2 … Read more

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