Hosting Information
- Offer Deadline
- EU Research Framework Programme
- H2020 / Marie Skłodowska-Curie Actions
- Country
- Spain
- City
- Seville
Organisation/Institute
- Organisation / Company
- Institute of Biomedicine of Seville (IBiS)
- Department
- Neurosciences
- Laboratory
- Neurogenetics and Synaptopathies
- Is the Hosting related to staff position within a Research Infrastructure?
- No
Contact Information
- Organisation / Company Type
- Public Research Institution
- Website
- amm-ibis@us.esfgs@us.es
- Postal Code
- 41013
- Street
- Avda. Manuel Siurot s/n
Description
Brief description of the Research Group |
In the Neurogenetics and Synaptopathies group, we address the study of prevalent brain disorders, such as autism, Alzheimer’s disease (AD) and other neurological disorders following approaches in Neurosciences and Human Genetics. This has led us to the identification of mutations in genes of the neurexins and neuroligins synaptic pathway in patients with AD and autism. Interestingly, these findings showed for the first time a loss-of-function neuroligin-1 mutation in AD, which inhibits its synaptogenic activity. These results have led to the generation of a knock-in mouse model that reproduces the mutation and to its characterization at the molecular and behavioural levels. Furthermore, we are characterizing the role of neurexins as synaptic mediators of presenilins, which are membrane proteases mutated in familial AD (FAD). We have shown that presenilin mutations identified in FAD patients inhibit the proteolytic processing of neurexins. In this line, we are currently studying the synaptic and behavioural defects produced by blocking the presenilin-mediated processing of neurexins. In the field of autism, we have generated a transgenic mouse model that expresses a beta-neurexin-1 mutant and have shown that the autism-associated symptoms developed by this mouse model can be reversed even in aged mice upon resuming the normal function of neurexins. We are currently characterizing the molecular mechanism responsible for the reversion of the autism-related phenotype.
|
Research Project Description |
Through the combination of Human Genetics and Neurosciences approaches, we can readily transfer the genetic findings identified in patients to the generation of cellular and animal disease models. Following this strategy, the current research aims of our work are:
Camacho-Garcia RJ et al Neurobiol Dis (2012) Camacho-Garcia RJ et al Psychiatr Genet (2013) Rabaneda LG et al Cell Rep (2014) Tristán-Clavijo E et al Neurobiol Aging 2015) Tristán-Clavijo E et al Mov Disord (2016)
https://www.ibis-sevilla.es/investigacion/neurociencias/neurogenetica-y…
|
Applications |
Motivation letter CV Two reference letters
|