animal model creation/study

Study of the action of the complex moderating ENA / VASP on synaptic defect induced by mutation of MeCP2 in neurons obtained from mice and induced pluripotent stem cells (iPSCs) derived from patients.

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Reference: 1 Abstract: The central hypothesis that there is a tendency to evaluate this project is that the mechanisms that regulate actin polymerization-dependent proteins of the ENA / VASP are able to modulate the effects of the mutation of MeCP2. In the case of positive results, then you might investigate whether a similar phenomenon also … Read more

A Mouse Model of CDKL5 Rett syndrome

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Reference: Amendola, Elena Abstract: Rett syndrome is a neurodevelopmental disorder most commonly caused by mutations in the MECP2 gene. However, some persons with Rett do not carry mutations in MECP2 and recently mutations in the cyclin dependent kinase-like 5 (CDKL5) gene have been found in persons having a Rett-like disorder that includes seizures during the … Read more

Mitochondrial dysfunction and cytosolic redox imbalance in Rett syndrome

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Reference: Michael Müller Abstract: Rett patients and mouse models of Rett syndrome, i.e. mice carrying mutations in the gene coding for the transcriptional regulator MeCP2, suffer from highly irregular breathing with temporary arrest of breathing, which gives rise to repeated episodes of reduced systemic oxygen supply (hypoxia). Yet, instead of desensitization or neuronal adaptation to … Read more

Study of synaptic and neuronal physiological alterations in the MeCP2 gene deficient animals models of Rett syndrome

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Reference: ANRn.a.6-NEURn.a.003 Abstract: PROJECT SUMMARY – Scientific Background and Objectives Mutations in the gene encoding the protein MeCP2, a transcriptional regulator binding methylated DNA, are causing neurological disorders – including Rett syndrome (RTT) – characterized by an apparently brain development normal. The mice with truncated versions of MeCP2 show similar neurological deficits in patients RTT. … Read more

Transgenic approaches to understanding astrocyte heterogeneity

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Reference: BB/L003236/1 Abstract: The cells in our brain are generally divided into two major categories based on their function – neurons (commonly known as nerve cells) and glial cells. Neurons are very important to our body because they process and transmit information to control our actions in daily life, while glial cells are seen as … Read more

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