France

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

ANTARES: Understanding and treating neuronal trafficking defects in Mecp2-pathies

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Reference: Abstract: Mecp2-pathies represent an emerging field among severe X-linked mental retardation syndromes. Rett Syndrome (RTT) represents the prototype of these pathologies and accounts for 10% of the cases of profound intellectual disability in females. The causative gene is the methyl CpG-binding protein 2 (MECP2) gene, encoding a multifunctional protein thought to ﾫmodulateﾫ the expression … Read more

Promising markers for the first early detection of Rett syndrome

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Reference: Abstract: Rett syndrome (RTT) is a genetic disease that affects the little girl from her 6th month, causing disorders of the nervous system.ﾠIf for the moment there is no cure for the disease, early detection is important and can limit neurological damage related symptoms faster.ﾠResearchers at the Institute of Biomolecules Max Mousseron (1) (IBMM … Read more

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