Characterization of novel proteins influencing MeCP2 activity and analysis of their possible involvement in Rett Syndrome

Reference: Charlotte Kilstrup-Nielsen Abstract: n.a PROJECT DETAILS  beginning: 2004. end: 2006. Country of research: Italy Counry of funding source: United States Funding organization: Research Sponsor: Robert C. & Adele R. Schiff Foundation Financing: PRIVATE FUNDERS – 59 120 € hyperlink

Investigation of the Importance of a hitherto Uncharacterized Mecp2-Isoform for Neuronal Morphogenesis and Chromatin related functions

Reference: Charlotte Kilstrup-Nielsen Abstract: MeCP2 is a protein that has been found to bind and probably regulate important aspects of chromatin but it is still not clear how defects in MeCP2 cause the neurologic problems of RTT. It has become clear that MeCP2 gets phosphorylated in neurons that are activated by external stimuli but we … Read more

Molecular pathologies and functional interactions of the X-linked MECP2 and CDKL5 genes

Reference: Charlotte Kilstrup-Nielsen Abstract: Rett syndrome (RTT) is a severe pediatric neurological disorder that, because of its incidence, represents the most common genetic cause of severe intellectual disability in girls worldwide. Several RTT variants have been described ranging from milder forms with a later age of onset to conditions with very early severe epileptic manifestations. … Read more

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