Biosketch

Alexandre Benmerah has a Cell Biology background with previous works focused on endocytosis and on the role of vesicular trafficking in the biogenesis of the primary cilium. After having headed a team at Cochin Institute for 12 years, he joined Sophie Saunier's group in 2013 to develop projects aiming to better understand the function of newly identified genes in nephronophthisis (NPH), a renal ciliopathy. Alexandre Benmerah contributed to the foundation of the french network on cilia and ciliopathies (Club CFC) and is regularly involved in the organization of French and European cilia meetings. He is also involved in teaching at the Paris Cité University where he is heading the Master 2 "Developmental and Cell Biology" and member of the board of the MECA department of the BioSPC PhD program.

Scientific Project

After having worked on the characterization of ciliary functions of new NPHP genes, Alexandre Benmerah joined the efforts of the team to develop therapeutic approaches for NPH and participated in the characterization of the effects of prostaglandin receptor agonists on ciliogenesis at the cellular level. His ongoing projects are pursuing these approaches aiming to identify and characterize new therapeutic compounds for NPH using cellular and zebrafish embryo models.

Publications

Primary cilia as architects of the neocortex: Roles in brain development, function, and microcephaly.

Thomsen OK, Fialová JL, Doganli C, Herrera-Cid C, Møllgård K, Benmerah A, Larsen LA, Christensen ST. Dev Cell. 2025 60(24):3364-3386. doi: 10.1016/j.devcel.2025.11.002. PMID: 41349537  Review.

Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.

Petzold F, Jeanpierre C, Chen X, Morinière V, Benmerah A, Dorval G, Saei H, Heidet L, Antignac C, Saunier S; INSERM–Necker Hospital NPH Collaborative Group. Clin J Am Soc Nephrol. 2025 21(3):446-59. doi: 10.2215/CJN.0000000905. PMID: 41343253

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis.

Tata A, Rocha G, Hureaux M, Serafin AS, Porée E, Menguy L, Goudin N, Cagnard N, Gréau L, Fila M, Briseño-Roa L, Annereau JP, Saunier S, Benmerah A. Kidney Int Rep. 2025 10(8):2821-2835. doi: 10.1016/j.ekir.2025.04.060. PMID: 40814642 

Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Signaling in MAPKBP1-Associated Kidney Disease.

Findeisen C, Papazian M, Pöschla L, Ertel A, Jin W, Panitz N, Hantmann E, Coucke P, Abdulwahab F, AlAbdi L, Alkuraya FS, Salem M, Alzaidan H, Eckardt KU, Christensen ST, Benmerah A, Saunier S, Halbritter J, Schönauer R. Kidney Int Rep. 2025 10(8):2836-2851. doi: 10.1016/j.ekir.2025.05.049. PMID: 40814602 

Correction for Querbes et al., "A JC Virus-Induced Signal Is Required for Infection of Glial Cells by a Clathrin- and eps15-Dependent Pathway".

Querbes W, Benmerah A, Tosoni D, Di Fiore PP, Atwood WJ. J Virol. 2024 98(4):e0028224. doi: 10.1128/jvi.00282-24. PMID: 38529953 

Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4.

Garfa Traoré M, Roccio F, Miceli C, Ferri G, Parisot M, Cagnard N, Lhomme M, Dupont N, Benmerah A, Saunier S, Delous M. Front Mol Biosci. 2023 10:1254691. doi: 10.3389/fmolb.2023.1254691. PMID: 37916190 

Meta-analysis of single-cell and single-nucleus transcriptomics reveals kidney cell type consensus signatures.

Quatredeniers M, Serafin AS, Benmerah A, Rausell A, Saunier S, Viau A.Sci Data. 2023 J10(1):361. doi: 10.1038/s41597-023-02209-9. PMID: 37280226 

Repurposing small molecules for nephronophthisis and related renal ciliopathies.

Benmerah A, Briseño-Roa L, Annereau JP, Saunier S.Kidney Int. 2023 104(2):245-253. doi: 10.1016/j.kint.2023.04.027. PMID: 37244473 Review.

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Kidney Int. 2023 104(2):378-387. doi: 10.1016/j.kint.2023.05.007. PMID: 37230223 

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.

Reilly ML, Ain NU, Muurinen M, Tata A, Huber C, Simon M, Ishaq T, Shaw N, Rusanen S, Pekkinen M, Högler W, Knapen MFCM, van den Born M, Saunier S, Naz S, Cormier-Daire V, Benmerah A, Makitie O. J Bone Miner Res. 2022 Sep;37(9):1642-1652. doi: 10.1002/jbmr.4639. PMID: 35748595 

Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.

Garcia H, Serafin AS, Silbermann F, Porée E, Viau A, Mahaut C, Billot K, Birgy É, Garfa-Traore M, Roy S, Ceccarelli S, Mehraz M, Rodriguez PC, Deleglise B, Furio L, Jabot-Hanin F, Cagnard N, Del Nery E, Fila M, Sin-Monnot S, Antignac C, Lyonnet S, Krug P, Salomon R, Annereau JP, Benmerah A, Delous M, Briseño-Roa L, Saunier S. Proc Natl Acad Sci U S A. 2022 May 3;119(18):e2115960119. doi: 10.1073/pnas.2115960119. PMID: 35482924 

Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis.

Stokman MF, Saunier S, Benmerah A. Front Cell Dev Biol. 2021 9:653138. doi: 10.3389/fcell.2021.653138. eCollection 2021.PMID: 34055783 Review.

Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

Tilley FC, Arrondel C, Chhuon C, Boisson M, Cagnard N, Parisot M, Menara G, Lefort N, Guerrera IC, Bole-Feysot C, Benmerah A, Antignac C, Mollet G. Sci Rep. 2021 11(1):5388. doi: 10.1038/s41598-021-84472-7. PMID: 33686175 

EFA6A, an exchange factor for Arf6, regulates early steps in ciliogenesis.

Partisani M, Baron CL, Ghossoub R, Fayad R, Pagnotta S, Abélanet S, Macia E, Brau F, Lacas-Gervais S, Benmerah A, Luton F, Franco M. J Cell Sci. 2021 134(2):jcs249565. doi: 10.1242/jcs.249565. PMID: 33483367

Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment.

Schönauer R, Jin W, Ertel A, Nemitz-Kliemchen M, Panitz N, Hantmann E, Seidel A, Braun DA, Shril S, Hansen M, Shahzad K, Sandford R, Saunier S, Benmerah A, Bergmann C, Hildebrandt F, Halbritter J. Kidney Int. 2020 98(4):958-969. doi: 10.1016/j.kint.2020.05.027. PMID: 32505465 

KIF14 controls ciliogenesis via regulation of Aurora A and is important for Hedgehog signaling.

Pejskova P, Reilly ML, Bino L, Bernatik O, Dolanska L, Ganji RS, Zdrahal Z, Benmerah A, Cajanek L. J Cell Biol. 2020 219(6):e201904107. doi: 10.1083/jcb.201904107. PMID: 32348467 

Cilia in hereditary cerebral anomalies.

Thomas S, Boutaud L, Reilly ML, Benmerah A. Biol Cell. 2019 111(9):217-231. doi: 10.1111/boc.201900012. PMID: 31177551  Review.

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Dupont MA, Humbert C, Huber C, Siour Q, Guerrera IC, Jung V, Christensen A, Pouliet A, Garfa-Traoré M, Nitschké P, Injeyan M, Millar K, Chitayat D, Shannon P, Girisha KM, Shukla A, Mechler C, Lorentzen E, Benmerah A, Cormier-Daire V, Jeanpierre C, Saunier S, Delous M. Hum Mol Genet. 2019 28(16):2720-2737. doi: 10.1093/hmg/ddz091. PMID: 31042281

Monitoring β-Arrestin 2 Targeting to the Centrosome, Basal Body, and Primary Cilium by Fluorescence Microscopy.

Molla-Herman A, Davis KM, Mykytyn K, Benmerah A. Methods Mol Biol. 2019;1957:271-289. doi: 10.1007/978-1-4939-9158-7_17. PMID: 30919360 

Ciliary kinesins beyond IFT: Cilium length, disassembly, cargo transport and signalling.

Reilly ML, Benmerah A. Biol Cell. 2019 111(4):79-94. doi: 10.1111/boc.201800074. PMID: 30720881 Review.

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.

Dorval G, Kuzmuk V, Gribouval O, Welsh GI, Bierzynska A, Schmitt A, Miserey-Lenkei S, Koziell A, Haq S, Benmerah A, Mollet G, Boyer O, Saleem MA, Antignac C. Am J Hum Genet. 2019 104(2):348-355. doi: 10.1016/j.ajhg.2018.12.016. PMID: 30661770 

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Reilly ML, Stokman MF, Magry V, Jeanpierre C, Alves M, Paydar M, Hellinga J, Delous M, Pouly D, Failler M, Martinovic J, Loeuillet L, Leroy B, Tantau J, Roume J, Gregory-Evans CY, Shan X, Filges I, Allingham JS, Kwok BH, Saunier S, Giles RH, Benmerah A. Hum Mol Genet. 2019 28(5):778-795. doi: 10.1093/hmg/ddy381. PMID: 30388224 

C-terminal oligomerization of podocin mediates interallelic interactions.

Stráner P, Balogh E, Schay G, Arrondel C, Mikó Á, L'Auné G, Benmerah A, Perczel A, K Menyhárd D, Antignac C, Mollet G, Tory K. Biochim Biophys Acta Mol Basis Dis. 2018 1864(7):2448-2457. doi: 10.1016/j.bbadis.2018.04.008. PMID: 29660491 

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

Ryan R, Failler M, Reilly ML, Garfa-Traore M, Delous M, Filhol E, Reboul T, Bole-Feysot C, Nitschké P, Baudouin V, Amselem S, Escudier E, Legendre M, Benmerah A, Saunier S. Hum Mol Genet. 2018 27(2):266-282. doi: 10.1093/hmg/ddx396. PMID: 29121203

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.

Broix L, Asselin L, Silva CG, Ivanova EL, Tilly P, Gilet JG, Lebrun N, Jagline H, Muraca G, Saillour Y, Drouot N, Reilly ML, Francis F, Benmerah A, Bahi-Buisson N, Belvindrah R, Nguyen L, Godin JD, Chelly J, Hinckelmann MV. Hum Mol Genet. 2018 27(2):224-238. doi: 10.1093/hmg/ddx384. PMID: 29077851

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AEC, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A. Am J Hum Genet. 2017 100(2):372. doi: 10.1016/j.ajhg.2017.01.025. PMID: 28157543 

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AEC, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A. Am J Hum Genet. 2017 100(2):323-333. doi: 10.1016/j.ajhg.2016.12.011. PMID: 28089251 

Morphological and Functional Characterization of the Ciliary Pocket by Electron and Fluorescence Microscopy.

Ghossoub R, Lindbæk L, Molla-Herman A, Schmitt A, Christensen ST, Benmerah A. Methods Mol Biol. 2016;1454:35-51. doi: 10.1007/978-1-4939-3789-9_3. PMID: 27514914

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

Grampa V, Delous M, Zaidan M, Odye G, Thomas S, Elkhartoufi N, Filhol E, Niel O, Silbermann F, Lebreton C, Collardeau-Frachon S, Rouvet I, Alessandri JL, Devisme L, Dieux-Coeslier A, Cordier MP, Capri Y, Khung-Savatovsky S, Sigaudy S, Salomon R, Antignac C, Gubler MC, Benmerah A, Terzi F, Attié-Bitach T, Jeanpierre C, Saunier S. PLoS Genet. 2016 12(3):e1005894. doi: 10.1371/journal.pgen.1005894. PMID: 26967905 

Arl13b and the exocyst interact synergistically in ciliogenesis.

Seixas C, Choi SY, Polgar N, Umberger NL, East MP, Zuo X, Moreiras H, Ghossoub R, Benmerah A, Kahn RA, Fogelgren B, Caspary T, Lipschutz JH, Barral DC. Mol Biol Cell. 2016 27(2):308-20. doi: 10.1091/mbc.E15-02-0061. PMID: 26582389