Biographie de Sylvie Friant

Name: FRIANT Sylvie

Date of birth: 2nd March 1970 in Strasbourg (France) – married – 2 children (2003 and 2005)

Position: Senior Researcher at the CNRS

Address: Department of Molecular and Cellular Biology – UMR7156 – University of Strasbourg – 21 rue Descartes – 67084 Strasbourg – France

Email: s.friant[at]                               Phone: (+33) 388 68 85 13 60



2006 Habilitation to direct research (H.D.R.), University of Strasbourg - France

1997 PhD in Molecular and Cellular Biology, University Louis Pasteur - Strasbourg - France

1994 Master degree (D.E.A.) in Molecular and Cellular Biology, University of Strasbourg - France

1992    Bachelor in Science (B.S.) Biochemistry, University of Strasbourg - France

Professional experience

2017 - present: Director of Research (DR2) CNRS, head of the “Membrane trafficking and lipid signaling” team at the University of Strasbourg-CNRS

2006-2016: Senior Researcher (CR1) CNRS, and head of the young investigator group “Membrane trafficking and lipid signaling” at the University of Strasbourg UMR7156-CNRS.

2003-2006: Junior Researcher (CR2) CNRS in the group of Dr. B Winsor - University of Strasbourg.

2001-2003: Junior Researcher (CR2) CNRS in the group of F. Letourneur - IBCP - Lyon - France.

1998-2000: Post-doc (Human Frontier and EMBO Long Term Fellowships) in the laboratory of Pr. H Riezman - Biozentrum - University of Basel - Basel - Switzerland.

1994-1997: PhD thesis with Dr. FX Wilhelm, UPR9002-CNRS - IBMC - Strasbourg – France.

Other Experience and Professional Memberships

1996-  Member of the French Society for Biochemistry and Molecular Biology

2001- Member of the French Society of Cell Biology

2002-  Reviewer for Traffic, Mol. Biol. Cell, J. Mol. Biol., PLoS, EMBO Journal

2002-  Invited speaker for seminars in French and European Universities and Laboratories. Invited speaker at the Conference Vesicular Trafficking with the three Nobel Prize 2013 (Paris). Invited speaker at the 17th International Symposium on Molecular medicine (Athens).

2002-  Jury member for PhD and HDR defenses, for PhD fellowship competition (U. Strasbourg) and for Master thesis defenses (M2S4, Master BMO, BGM, Strasbourg).

2006-  Direction of PhD thesis, with 3 doctoral students in the laboratory in 2016.

2010    Organization of the French Yeast Meeting LMO 9 (Strasbourg)

2011-  Member of the Advisory Board of the Life Sciences Faculty (U. Strasbourg)

2013-  Member of the Pedagogical Committee of the Life Sciences Doctoral School (U. Strasbourg)

2013-  Reviewer for fellowship and grant applications for FNRS (Belgium), U.C. Louvain (Belgium), DFG (Germany), Homing Program (Europe, Poland), Wellcome Trust (UK), WW Cancer R. (UK), Czech Science Foundation.

2013-  Erasmus Mundus EU Program, 3 European students since 2013.

2016- Nominated of AcademiaNet, a portal for excellent women academics.


1995-1997                  PhD fellow from the French government (MRT)

1998-1999                  EMBO Long Term fellow

1999-2000                  HFSP (Human Frontier Science Program) Long Term fellow

2005                           Bronze Medal from the CNRS for Cell Biology

2005                           Recipient of the CNRS ATIP starting grant

Ongoing Research Support

2018: AFM/Telethon program (Myopathy disease Association), research grant “Study of two neuromuscular diseases due to mutations in myotubularins MTM1 or MTMR2 by using yeast, cell lines and mice models”; role : PI.

Completed Research Support (since 2005)

2016: Retina France “Retinal characterization of PIK3R4/VPS15: a novel ciliary player responsible for early onset retinitis pigmentosa”, PI: Jean Muller (Strasbourg); role: participant.

2015: AFM/Telethon program (Myopathy disease Association) “Deciphering the molecular specificity of two neuromuscular diseases by using the yeast Saccharomyces cerevisiae.”; role : PI.

2015: Phenomin-Fondation Maladies Rares (rare diseases) grant, " Mouse modeling of a missense mutation in the essential gene PIK3R4 (VPS15) responsible for a ciliopathy-like disease ", role: co-investigator, coordinator: Hélène Dollfus (LGM, INSERM, Strasbourg), grant to support the creation of the mouse VPS15-KI model by the ICS (Institut Clinique de la Souris, Illkirch, France).

2015: Excellence Initiative (IdEx)-University of Strasbourg, “Yeast, a new model to study ciliopathy genes involved in intracellular trafficking.”; IdEx-Attractiveness for Séverine Bär (role: PI).

2014: AFM-Téléthon PhD fellowship for M. Raess (3 years support), co-direction with Belinda Cowling, INSERM Researcher in the team of J. Laporte, IGBMC, Illkirch.

2014:Excellence Initiative (IdEx)-University of Strasbourg PhD fellowship for M. Sanjuan-Vazquez (3 years support).


WO/2019/007991 - MTMR2-S POLYPEPTIDE FOR USE IN THE TREATMENT OF MYOPATHIES – Patent developed in collaboration with J. Laporte (IGBMC, Illkirch, France).

Publications since 2003


(Full list on AND



Yeast as a Model to Understand Actin-Mediated Cellular Functions in Mammals—Illustrated with Four Actin Cytoskeleton Proteins, Zain Akram, Ishtiaq Ahmed, Heike Mack, Ramandeep Kaur, Richard C. Silva, Beatriz A. Castilho, Sylvie Friant, Evelyn Sattlegger and Alan L. Munn, Cells2020, 9

(3), 672; (registering DOI)

Scheidecker S, Bar S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J,

Friant S*, Dollfus H* (2019) Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. Hum Mutat. doi: 10.1002/humu.23799. * co-corresponding authors.

Laugel-Haushalter V, Bar S, Schaefer E, Stoetzel C, Geoffroy V, Alembik Y, Kharouf N, Huckert M, Hamm P, Hemmerle J, Maniere MC, Friant S, Dollfus H, Bloch-Zupan A (2019) A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta. Front Genet 10: 504, doi: 10.3389/fgene.2019.00504

Sainio MT, Valipakka S, Rinaldi B, Lapatto H, Paetau A, Ojanen S, Brilhante V, Jokela M, Huovinen S, Auranen M, Palmio J, Friant S, Ylikallio E, Udd B, Tyynismaa H (2019) Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy. J Neurol 266: 353-360, 10.1007/s00415-018-9137-8

Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bar S, Kroll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanche H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H, Muller J (2018) Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. Hum Mutat 39: 983-992, 10.1002/humu.23539

Cowling BS, Prokic I, Tasfaout H, Rabai A, Humbert F, Rinaldi B, Nicot AS, Kretz C, Friant S, Roux A and Laporte J. (2017) Amphiphysin 2 (BIN1) negatively regulates dynamin (DNM2), and DNM2 haploinsufficiency rescues muscle defects due to BIN1 alteration. J Clin Invest pii: 90542. doi: 10.1172/JCI90542.

KannanM, BayamE, WagnerC, RinaldiB, KretzP, Tilly P, RoosM, McGillewie M, Bär S, Minocha S, Chevalier C, Po C, Sanger Mouse Genetics Project, Chelly J, MandelJL, Borgatti R, Piton A, Kinnear C, Loos B, Hérault Y, Collins SC, Friant S, Godin J, and Yalcin B. (2017) WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. PNAS 114(44):E9308-E9317. doi: 10.1073/pnas.1713625114.

Raess, M.A., Cowling, B.S., Bertazzi D.L., Kretz C., Rinaldi B., Xuereb, J.M., Kessler P., Romero N.B., Payrastre B., Friant, S.*, and Laporte, J.* (2017). Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy. Hum Mol Genet. 26(19), 3736; doi: 10.1093/hmg/ddx258. * co-corresponding authors.

De Craene, J.O., Bertazzi, D.L., Bär, S. and Friant, S. (2017). Phosphoinositides, Major Actors in Membrane Trafficking and Lipid Signaling Pathways. Int J Mol Sci18(3), 634; doi: 10.3390/ijms18030634

Stoetzel, C., Bär, S., De Craene, J.O., Scheidecker, S., Etard, C., Chicher, J., Reck, J.R., Perrault, I., Geoffroy, V., Chennen, K., Strahle, U., Hammann, P., Friant, S.*, and Dollfus, H.* (2016). A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi. Nature Communications 7:13586. doi: 10.1038/ncomms13586. * co-corresponding authors.

O'Grady, G.L., Best, H.A., Sztal, T.E., Schartner, V., Sanjuan-Vazquez, M., Donkervoort, S., Abath Neto, O., Sutton, R.B., Ilkovski, B., Romero, N.B., Stojkovic, T., Dastgir, J., Waddell, L.B., Boland, A., Hu, Y., Williams, C., Ruparelia, A.A., Maisonobe, T., Peduto, A.J., Reddel, S.W., Lek, M., Tukiainen, T., Cummings, B.B., Joshi, H., Nectoux, J., Brammah, S., Deleuze, J.F., Ing, V.O., Ramm, G., Ardicli, D., Nowak, K.J., Talim, B., Topaloglu, H., Laing, N.G., North, K.N., MacArthur, D.G., Friant, S., Clarke, N.F., Bryson-Richardson, R.J., Bonnemann, C.G., Laporte, J., and Cooper, S.T. (2016). Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am J Hum Genet 99(5):1086-1105. doi: 10.1016/j.ajhg.2016.09.005.

Debard, S., Bader, G., De Craene, J.O., Enkler, L., Bar, S., Laporte, D., Myslinski, E., Senger, B., Friant, S., and Becker, H. D. (2016). Nonconventional localizations of cytosolic aminoacyl-tRNA synthetases in yeast and human cells. Methods S1046-2023(16)30335-8. doi: 10.1016/j.ymeth.2016.09.017.

Raess, M.A., Friant, S., Cowling, B.S., and Laporte, J. (2016). WANTED - Dead or alive: Myotubularins, a large disease-associated protein family. Adv Biol Regul pii: S2212-4926(16)30031-8. doi: 10.1016/j.jbior.2016.09.001.

Feyder, S., De Craene, J.O., Bar, S., Bertazzi, D.L., and Friant, S. (2015). Membrane trafficking in the yeast Saccharomyces cerevisiae model. Int J Mol Sci 16, 1509-1525.

Bertazzi, D.L., De Craene, J.O., Bar, S., Sanjuan-Vazquez, M., Raess, M.A., and Friant, S. (2015). [Phosphoinositides: lipidic essential actors in the intracellular traffic]. Biol Aujourdhui 209, 97-109.

Morvan, J., de Craene, J.O., Rinaldi, B., Addis, V., Misslin, C., and Friant, S. (2015). Btn3 regulates the endosomal sorting function of the yeast Ent3 epsin, an adaptor for SNARE proteins. J Cell Sci 128, 706-716.

Bertazzi, D.L., De Craene, J.O., and Friant, S. (2015). Myotubularin MTM1 Involved in Centronuclear Myopathy and its Roles in Human and Yeast Cells. J. Mol. Genet. Medicine 8.

De Craene JO, Courte F, Rinaldi B, Fitterer C, Herranz MC, Keichinger C, Ritzenthaler C and Friant S. (2014) Study of the plant COPII vesicle coat subunits by functional complementation of yeast Saccharomyces cerevisiae mutants. PLoS One; 9(2): e90072.

Spiess M, de Craene JO, Michelot A, Rinaldi B, Huber A, Drubin DG, Winsor B, Friant S. (2013) Lsb1 is a negative regulator of las17 dependent actin poymerization involved in endocytosis. PLoS One.; 8(4):e61147.

Amoasii L, Bertazzi DL, Tronchère H, Hnia K, Chicanne G, Rinaldi B, Cowling BS, Ferry A, Klaholz B, Payrastre B, Laporte J, Friant S. (2012) Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice. PLoS Genet.; 8(10):e1002965.

Morvan J, Rinaldi B, Friant S. (2012) Pkh1/2-dependent phosphorylation of Vps27 regulates ESCRT-I recruitment to endosomes. Mol Biol Cell.; 23(20):4054-64.

De Craene JO, Ripp R, Lecompte O, Thompson JD, Poch O, Friant S. (2012) Evolutionary analysis of the ENTH/ANTH/VHS protein superfamily reveals a coevolution between membrane trafficking and metabolism. BMC Genomics. Jul 2;13:297.

Cardona F, Orozco H, Friant S, Aranda A, del Olmo M. (2011) The Saccharomyces cerevisiae flavodoxin-like proteins Ycp4 and Rfs1 play a role in stress response and in the regulation of genes related to metabolism. Arch Microbiol., 193, 515-25.

Addis V., Bennasroune A. and Friant S. (2006) Budding of HIV-1 particles in multivesicular bodies of macrophages, a « Trojan Horse » pathway in lentiviral infections. Recent Res. Devel. Virol., 7.

Mirey G., Soulard A., Orange C., Friant S. and Winsor B. (2005) SH3-containing proteins and the actin cytoskeleton in yeast. Biochem Soc Trans, 33, 1247-1249.

Soulard A., Friant S., Fitterer C., Orange C., Kaneva G., Mirey G. and Winsor B. (2005) The WASP/Las17p interacting protein Bzz1p functions with Myo5p in an early stage of endocytosis. Protoplasma, 226, 89-101.

Eugster A., Pécheur E.I., Michel F., Winsor B., Letourneur F. and Friant S. (2004) Ent5p is required with Ent3p and Vps27p for ubiquitin-dependent protein sorting into the multivesicular body. Mol. Biol. Cell, 15, 3031-3041.

Friant S., Pécheur E.I., Eugster A. Michel F., Lefkir Y., Nourrisson D. and Letourneur F. (2003) Ent3p is a PtdIns(3,5)P2 Effector Required for Protein Sorting to the Multivesicular Body. Dev. Cell,5, 499-511.

Friant S., Meier K.D. and Riezman H. (2003) Increased ubiquitin-dependent degradation can replace the essential requirement for heat shock protein induction. EMBO J, 22, 3783-3791.