in vitro functional study – Rett syndrome research – projects, results and publications

Molecular and functional characterization of the newly identified interaction between the Rett syndrome-associated factor MeCP2 and the pro-apoptotic factor HIPK2

June 16, 2021June 29, 2015 by Editorial Team

Reference: Abstract: n.a PROJECT DETAILS beginning: n.a end: n.a Country of research: Italy Counry of funding source: Italy Funding organization: Fondazione Telethon Financing: PRIVATE FUNDERS – 0 € hyperlink

Pharmacological treatment of respiratory disorders in a mouse model of Rett syndrome

June 16, 2021June 29, 2015 by Editorial Team

Reference: Paton, Julian Abstract: Breathing abnormalities consisting of rapid deep respiration followed by cessation of breathing and an irregular interval between breaths are a common and distressing feature of Rett syndrome (RTT). Using a mouse model we have shown that injections of a compound that boosts the brain concentration of the inhibitory neurotransmitter ? amino-butyric … Read more

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

June 16, 2021June 29, 2015 by Editorial Team

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

Unravelling the Rett syndrome: effects of mecp2 mutations on synaptic function

June 16, 2021June 29, 2015 by Editorial Team

Reference: GGP13187 Abstract: Rett syndrome (RS) is a disease of the nervous system that manifests itself in baby girls at about 6-18 months of age. It is characterized by the onset of a complex set of neurological signs, including mental retardation, autism, epilepsy. In most cases RS is caused by the loss of function of … Read more

Multifactorial analysis of the movement and the way in Rett syndrome

June 16, 2021June 29, 2015 by Editorial Team

Reference: 4 Abstract: Rett syndrome (RTT) is a rare and complex factors for multiproblematicit? disabling. One of the main and most serious is the progressive loss of control of locomotor and gait, often affected by the presence of involuntary movements, dystonia, ataxia and spasticity. Only rarely treatment strategies used in the neuromotor pathologies infant may … Read more