CHAUSSAIN Catherine : EA2496 : Orofacial Pathologies, Imaging and Biotherapies Laboratory

Unit : EA2496 Orofacial Pathologies, Imaging and Biotherapies Laboratory - Paris Descartes University

Faculté de Chirurgie Dentaire - Paris Descartes
EA2496 Laboratoires Pathologies, Imagerie et Biothérapies orofaciales
1 rue Maurice Arnoux
92120 Montrouge

Speciality : Department DGNRV

Director of the unit : Catherine CHAUSSAIN

Principal investigator :

CHAUSSAIN Catherine
Email : catherine.chaussainSPAMFILTER@parisdescartes.fr Phone number: +33 (0)1 58 07 67 24/67 24

Composition of research team :

  • CHAUSSAIN Catherine, PU-PH (HDR)
  • COLOMBIER Marie-Laure (PU-PH,HDR)
  • PELLAT Bernard (PR, Emerite)  
  • POLIARD Anne (PR, HDR)
  • ROCHEFORT Gaël (MCF,HDR)
  • SAFFAR Jean-Louis (PU-PH, HDR)
  • VITAL Sybille (MCU-PH (HDR)
  • BARDET Claire ( MCF)
  • BOUKPESSI Tchilalo  (MCU-PH)
  • CHERRUAU Marc (MCU-PH)
  • DECUP Franck  (MCU-PH)
  • GAUCHER Céline (MCU-PH)
  • GORIN Caroline (MCU-PH)
  • GOSSET Marjolaine  (MCU-PH)
  • SALMON Benjamin (MCU-PH)
  • TILOTTA Françoise (MCU-PH)

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.