Italy

The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients.

by

Reference: Abstract: Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurological disorder, which affects mostly females. It is associated with mutations of the MECP2 gene, codifying for a methyl-CpG DNA binding protein of the MBDs family, sharing the common Methyl Binding Domain. MeCP2 binds single methylated CpG pair and brings transcriptional silencing to the … Read more

ANIMAL MODELS OF NEUROPSYCHIATRIC DISORDERS

by

Reference: 1Z01MH002179-22 Abstract: Relevant to our research interests in animal models of neuropsychiatric diseases, our Laboratory of Behavioral Neuroscience investigates the behavioral phenotypes of transgenic and knockout mice with mutations in genes expressed in brain pathways involved in neuropsychiatric disorders. We developed and refined a multi-tiered strategy for mouse behavioral phenotyping that is widely used … Read more

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

by

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

By continuing to use the site, you agree to the use of cookies. more information

The cookie settings on this website are set to "allow cookies" to give you the best browsing experience possible. If you continue to use this website without changing your cookie settings or you click "Accept" below then you are consenting to this.

Close