Andréa Laurato Sertié

• Abstract

  Recent whole-genome-based analyzes have revealed a large number of potentially deleterious genetic variants in patients with Autism Spectrum Disorder (ASD), most of them rare and private. One of the major current challenge is to determine which of these variants are involved in the etiology of the disease and how many variants are required for the complete penetrance of the disorder in ea…

  Functional analysis of rare genetic variants in Autism Spectrum Disorder: an oligonenic mode of inheritance?, AP.R

• Abstract

  We propose to combine the complementary expertise of our labs in cellular reprogramming and exome sequencing (Sertié's group) and transcriptome sequencing co-expression network reconstruction (Voineagu lab) to investigate convergent pathophysiology of non-syndromic ASD and Rett syndrome. Dr. Sertie's group is studying the possible role of the complement system in the etiology of ASD, thro…

  Gene expression analysis on in vitro neuronal models and post-mortem brain tissues to understand Autism Spectrum Disorder, AP.R SPRINT

• Abstract

  This proposal is aimed to further characterize this important pathway in the developing brain and to understand how it is involved in ASD. The specific objectives include: 1) Further analyze and characterize the complement pathway in the developing brain using mouse models; 2) Expand and validate ASD related variants in the complement pathway; 3) Focus on specific ASD related potentially …

  Elucidating the role of the innate immune complement pathway in brain development and in Autism Spectrum Disorders, AP.R

(Only some records are available in English at this moment)

• Abstract

  Autism Spectrum Disorder (ASD) is a neurodevelopmental disease characterized by deficits in social communication and interaction, as well as by repetitive and stereotyped behaviors. In most cases, the cause of ASD is not completely understood, but it is commonly associated with heterogeneous genetic and environmental backgrounds. Among the most important environmental risk factors for ASD…

  Investigation of the effects of IL-17a cytokine on human neural cells and on autism spectrum disorder, BP.MS

• Abstract

  Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by impairment in reciprocal social communication, restricted repetitive and stereotyped patterns of behavior. Recent genomic studies have revealed that the genetic architecture of ASD is extremely complex and heterogeneous, and both rare and common genetic variants may contribute to its etiology. However, most …

  Molecular and cellular effects of a de novo mutation in the CACNA1H gene in autistic spectrum disorder, BP.MS

• Abstract

  Collybistin and gephyrin are key proteins implicated in inhibitory synapse development and plasticity that cluster and localize inhibitory neurotransmitter receptors to the neural postsynaptic membrane. Loss of function mutations of collybistin and gephyrin have been identified in patients with neurological diseases such as mental retardation, epilepsy and autism. We have recently reporte…

  Study of the involvement of collybistin and gephyrin proteins in the control of translation initiation, BP.MS