U1016 UMR8104

Genetics, pathophysiology and therapeutics of mental spectrum disorders

Main field of research: 

Neurogenetics / neurodevelopment

Keywords: 

mental disorders
animal models
therapy
genetic
pathophysiology

ENP label: 

2014

Research Center / Institute: 

Institut Cochin

Research Unit Code: 

U1016 UMR8104

Starting from human genetics, our team isolates some genes involved in intellectual disability and others disorders of the mentalspectrum. Together with biologists and clinicians from AP-HP, we search in patient’s genome for variants (Copy Number Variationand nucleotide polymorphism) in genes encoding synaptic proteins. In addition, we try to understand their pathophysiologicalmechanisms using both molecular and cellular approaches on mouse and human cell models.

Personal

ENP Students: 

Team members: 

DORSEUIL Olivier
POIRIER Karine
SAILLOUR Yoann
NECTOUX Juliette
CUISSET Laurence
Institutions

Principal Institution: 

Inserm

Affiliated institutions: 

CNRS
Université Paris Descartes

University: 

Université Paris Descartes

Doctoral School: 

ED BioSPC
Laboratory

Surname: 

Département Développement, Reproduction, Cancer (DRC)

Initiatives d'Excellence: 

Labex WhoAml, Institut Cochin, partenaire 3
Publications

Publications: 

Delépine C, Meziane H, Nectoux J, Opitz M, Smith AB, Ballatore C, Saillour Y, Bennaceur-Griscelli A, Chang Q, Williams EC, Dahan M, Duboin A, Billuart P, Herault Y, Bienvenu T. Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes. Hum Mol Genet. 2016 Jan, 1;25(1):146-57. doi: 10.1093/hmg/ddv464. Epub 2015 Nov 24. PubMed PMID: 26604147; PubMed Central PMCID: PMC4690499.

Renaud J, Dumont F, Khelfaoui M, Foisset SR, Letourneur F, Bienvenu T, Khwaja, O, Dorseuil O, Billuart P. Identification of intellectual disability genes showing circadian clock-dependent expression in the mouse hippocampus. Neuroscience. 2015 Nov 12;308:11-50. doi: 10.1016/j.neuroscience.2015.08.066. Epub 2015 Sep 2. PubMed PMID: 26341910.

Montani C, Ramos-Brossier M, Ponzoni L, Gritti L, Cwetsch AW, Braida D, Saillour Y, Terragni B, Mantegazza M, Sala M, Verpelli C, Billuart P, Sala C. The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity. J Neurosci. 2017 Jul 12;37(28):6606-6627. doi: 10.1523/JNEUROSCI.3775-16.2017. Epub 2017 Jun 2. PubMed PMID: 28576939.

Meziane H, Khelfaoui M, Morello N, Hiba B, Calcagno E, Reibel-Foisset S, Selloum M, Chelly J, Humeau Y, Riet F, Zanni G, Herault Y, Bienvenu T, Giustetto, M, Billuart P. Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability. Hum Mol Genet. 2016 Jun 1;25(11):2314-2323. Epub 2016 May 4. PubMed PMID:27146843.