Genetics, pathophysiology and therapeutics of mental spectrum disorders


Université Paris Descartes
Université Paris Descartes


Département Développement, Reproduction, Cancer (DRC)
U1016 UMR8104
Labex WhoAml, Institut Cochin, partenaire 3


mental disorders
animal models


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.

Fields of research

Neurogenetics / neurodevelopment

Research Theme

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. Finally, from these functional studies,we screened for molecules known to modulate the characterized signaling pathways in order to restore the normal biologicalfunctions. We are mainly focusing our efforts on few ID genes: oligophrenin1 (OPHN1), Interleukin-1 accessory protein like1(IL1RAPL1), OCRL1 and MECP2 and will extend, together with Psychiatry centers, our studies to other mental disorders such asanorexia, schizophrenia, autism or Asperger syndrome.

ENP Students


Team members

NECTOUX Juliette
CUISSET Laurence