COLLEAUX Laurence : UMR_S1163 : Molecular and Physiopathological bases of early-onset cognitive disorders

Unit : INSERM UMR_S1163 - IHU Imagine - Institut des Maladies Génétiques - Université Paris Descartes

Université Paris Descartes
IHU Imagine - Institut des Maladies Génétiques
Bâtiment Imagine
Equipe "Bases moléculaires et physiopathologiques des désordres cognitifs"
24 Boulevard du Montparnasse
75015 PARIS

Speciality : Department DGNRV

Director of the unit : Alain FISCHER

Principal investigator :

COLLEAUX Laurence
Email : laurence.colleauxSPAMFILTER@inserm.fr Phone number: +33 (0)1 42 75 42 96

Composition of research team :

  • COLLEAUX Laurence (DR1-CNRS, HDR)
  • PHILIPPE Anne  (CR1-INSERM)   
  • BODDAERT Nathalie (PU-PH, HDR)   
  • MALAN Valérie (MCU-PH)  
  • CANTAGREL Vincent (CR1-INSERM)

5 Recent publications of the research team :

Mircsof D, Langouët M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Žnidarič M, Alibeu O, Fritz AK, Wolfer DP, Schröter A, Bosshard G, Rudin M, Koester C, Crestani F, Seebeck P, Boddaert N, Prescott K; DDD Study, Hines R, Moss SJ, Fritschy JM, Munnich A, Amiel J, Brown SA, Tyagarajan SK, Colleaux L (2015 ) Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects. Nat Neurosci. 2015 Nov 16. doi: 10.1038/nn.4169. [Epub ahead of print]

Akizu N, Cantagrel, L V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG (2013) AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell. 154:505-17

Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R (2012) De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet. 44:1255-1259

Hashimoto S, Boissel S, Zarhrate M, Rio M, Munnich A, Egly JM, Colleaux L (2011) MED23 Mediator subunit mutation links intellectual disability to dysregulation of immediate early gene expression. Science 333 :1161-1163.

Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L (2011) Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature. Am J Hum Genet. 88:788-95.