animal model creation/study

Identification of neuronal substrates of Rett syndrome and validation of therapies in preclinical models: a genomic, morphofunctional, and behavioural analysis in mouse models and patients

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Reference: GGP09196 Abstract: Rett syndrome is a leading cause of mental retardation, second only to Down syndrome, which affects almost exclusively girls. This disease becomes manifest after a period of apparently normal development and causes growth retardation, severe psychomotor impairment and autistic behaviour. The majority of cases of Rett syndrome are caused by mutations in … Read more

Role of MeCP2 in the proliferationand in the differentiation of the cerebral cortex

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Reference: Project4 Abstract: Objective: the production of MeCP2 starts very early during development of the central nervous system; although at 14 days after conception the cerebral cortex of mice expressing high levels of MeCP2, the role of MeCP2 during these phases has so far been overlooked. it is our opinion that MeCP2 and in particular … Read more

Congenital Rett syndrome: cellular and mouse models for the study of foxg1 impact on forebrain neurogenesis

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Reference: GGP09117 Abstract: Rett syndrome is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. Mutations in the MECP2 gene have long represented the only known cause of Rett. Recently, we demonstrated that mutations in a different gene, FOXG1, are responsible for the most severe form of … Read more

Preclinical evaluation of a protein produced by Escherichia coli as a novel therapeutic approach for Rett Syndrome

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Reference: 2 Abstract: In a recent study, we have reported that the administration of a toxin derived from bacteria, for brevity called CNF1, improved in a clear manner some of the behavioral alterations observed in transgenic mice, a model for Rett syndrome. CNF1 The result is also able to counteract some morphological abnormalities in the … Read more

Alteration of the mechanisms of oxidative stress and their treatment in an animal model of Rett syndromehe 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: 2 Abstract: This project was inspired by a series of preliminary results obtained by the proposer: It has established a unique relationship between mutations in the gene, the severity of the phenotype and the levels of some markers ZO, such as F2 isoprostanes and F4 and iron not bound to protein (NPBI) in plasma … Read more

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