France

G?ne ARX et retard mental

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Reference: Jamel CHELLY ﾖ CHU Cochin ? Paris Abstract: n.a PROJECT DETAILS  beginning: 2002. end: 2002. Country of research: France Counry of funding source: France Funding organization: FFRE fondation-epilepsie Financing: PRIVATE FUNDERS – 15 000 € hyperlink

Immunomodulatory role of MeCP2 and Rett syndrome.

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Reference: Miralv?s Julie Abstract: Rett syndrome is a severe progressive neurodevelopmental disorder caused by dominant mutations in the MECP2 gene. The MeCP2 protein, highly expressed in mature neurons, is a transcriptional repressor of the family of Methyl-CpG-binding proteins (MBP) characterized by their ability to bind to methylated CpG nucleotides. Although the molecular mechanisms responsible for … Read more

Understand and address the deficits of neuronal transport in MeCP2-pathies

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Reference: ANR-12n.a.003-BSV1 Abstract: The MeCP2-pathies represent a field of particularly dynamic and competitive research in the field of intellectual disabilities related to the X chromosome Rett syndrome (RTT) is the prototype of these diseases and account for 10% of cases of mental retardation of genetic origin in women. The causative gene is Mecp2 encoding a … Read more

White – SVSE 1 – Physiology, pathophysiology, public health (White SVSE 1) 2012: Project ANTARES – Understand and address the deficits of neuronal transport in MeCP2-pathies

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Reference: ANR-12n.a.003-BSV1 Abstract: The MeCP2-pathies represent a field of particularly dynamic and competitive research in the field of intellectual disabilities related to the X chromosomeﾠRett syndrome (RTT) is the prototype of these diseases and account for 10% of cases of mental retardation of genetic origin in women.ﾠThe causative gene is Mecp2 encoding a multifunctional protein … Read more

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