SAUNIER Sophie : UMR_S1163 : Molecular bases of hereditary kidney diseases : nephronopthisis and hypodysplasia

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

IHU Imagine
Hôpital Necker
Tour Lavoisier 6ème étage
149 rue de Sèvres
75015 PARIS

Speciality : Department BCMPP

Director of the unit : Alain FISCHER

Principal investigator :

SAUNIER Sophie
Email : sophie.saunierSPAMFILTER@inserm.fr Phone number: +33 (0)1 44 49 50 99

Composition of research team :

  • SAUNIER Sophie (DR2 INSERM, HDR)
  • BENMERAH Alexandre (DR2 INSERM, HDR)
  • DELOUS Marion (CR2-INSERM)
  • HEIDET Laurence (PH, HDR)
  • LEGENDRE Flora (IR)
  • JEANPIERRE Cécile (CR1 CNRS, HDR)
  • SALOMON Rémi (PU-PH, HDR)

5 Recent publications of the research team :

Halbritter J*, Bizet AA*, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S*, Hildebrandt F*. Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. Am J Hum Genet. 2013 Oct 16.

Ghossoub R, Hu Q, Failler M, Rouyez MC, Spitzbarth B, Mostowy S, Wolfrum U, Saunier S, Cossart P, Jamesnelson W, Benmerah A. Septins 2, 7 and 9 and MAP4 colocalize along the axoneme in the primary cilium and control ciliary length. J  Cell Sci. 2013 Jun 15;126(Pt 12):2583-94.

Mahuzier A*, Gaudé HM*, Grampa V, Anselme I, Silbermann F, Leroux-Berger M, Delacour D, Ezan J, Montcouquiol M, Saunier S, Schneider-Maunoury S, Vesque C. Dishevelled stabilization by the ciliopathy Rpgrip1L is essential for planar cell polarity. J. Cell Biol. 2012  198, 927-40.

Burcklé C, Gaudé HM, Vesque C, Silbermann F, Salomon R, Jeanpierre C, Antignac C, Saunier S*, Schneider-Maunoury S*. Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros. Hum Mol Genet. 2011 20, 2611-27.

Delous M, Hellman NE, Gaudé HM, Silbermann F, Le Bivic A, Salomon R, Antignac C, Saunier S. Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6. Hum Mol Genet. 2009 18, 4711-47