human physiopathology study

From Synaptopathies to System Dysfunction

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Reference: Subproject to FZT 103 Abstract: This area of ??research focuses on genetic diseases that result in defects of synapse formation and function, which cause motor and cognitive deficits in Rett syndrome and as the associate autism.ﾠCause of Rett syndrome are encoded spontaneous mutations in X-linked MECP2 gene, the transcriptional regulator methyl-CpG binding protein 2 … Read more

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

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Reference: Abstract: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have recently been reported in patients with severe neurodevelopmental disorder characterized by early-onset seizures, infantile spasms, severe psychomotor impairment and very recently, in patients with Rett syndrome (RTT)-like phenotype. Although the involvement of CDKL5 in specific biological pathways and its neurodevelopmental role have not … Read more

Determination of the kinetic behaviour of methyl-CpG-binding proteins MeCP2 and MBD1 in living cells by applying fluorescence recovery after photobleaching (FRAP)

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Reference: Abstract: PROJECT DETAILS  beginning: 2004. end: 2006. Country of research: Germany Counry of funding source: Germany Funding organization: GermanﾠResearch Foundation Financing: NATIONAL FUNDINGS – 0 € hyperlink

When Neurons Touch-Elucidating the Role of Neuroligins in the Formation, Development, Maturation, and Maintenance of Synapses

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Reference: 274972 Abstract: The proper coupling between presynaptic and postsynaptic neurons is essential for synaptic signalling. Synapse formation, maturation, and maintenance are controlled by cell adhesion systems that recruit and organise the synaptic protein machinery. One such system comprises presynaptic neurexins and postsynaptic neuroligins. Of the five known neuroligins, neuroligin 1 is specific for excitatory … Read more

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