Sylvie Friant - Publications

Affiliations: 
Génétique Moléculaire, Génomique et Microbiologie Université de Strasbourg 

25 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Enkler L, Rinaldi B, de Craene JO, Hammann P, Nureki O, Senger B, Friant S, Becker HD. Cex1 is a component of the COPI intracellular trafficking machinery. Biology Open. 10. PMID 33753324 DOI: 10.1242/bio.058528  0.48
2020 Castro CN, Rosenzwajg M, Carapito R, Shahrooei M, Konantz M, Khan A, Miao Z, Groß M, Tranchant T, Radosavljevic M, Paul N, Stemmelen T, Pitoiset F, Hirschler A, Nespola B, ... ... Friant S, et al. NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation. The Journal of Experimental Medicine. 217. PMID 32766723 DOI: 10.1084/Jem.20192275  0.4
2020 Bader G, Enkler L, Araiso Y, Hemmerle M, Binko K, Baranowska E, De Craene JO, Ruer-Laventie J, Pieters J, Tribouillard-Tanvier D, Senger B, di Rago JP, Friant S, Kucharczyk R, Becker HD. Assigning mitochondrial localization of dual localized proteins using a yeast Bi-Genomic Mitochondrial-Split-GFP. Elife. 9. PMID 32657755 DOI: 10.7554/Elife.56649  0.48
2020 Kröll-Hermi A, Ebstein F, Stoetzel C, Geoffroy V, Schaefer E, Scheidecker S, Bär S, Takamiya M, Kawakami K, Zieba BA, Studer F, Pelletier V, Eyermann C, Speeg-Schatz C, Laugel V, ... ... Friant S, et al. Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress. Embo Molecular Medicine. e11861. PMID 32500975 DOI: 10.15252/Emmm.201911861  0.44
2020 Doummar D, Dentel C, Lyautey R, Metreau J, Keren B, Drouot N, Malherbe L, Bouilleret V, Courraud J, Valenti-Hirsch MP, Minotti L, Dozieres-Puyravel B, Bär S, Scholly J, Schaefer E, ... ... Friant S, et al. Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia. European Journal of Human Genetics : Ejhg. PMID 32467598 DOI: 10.1038/S41431-020-0641-9  0.44
2019 Laugel-Haushalter V, Bär S, Schaefer E, Stoetzel C, Geoffroy V, Alembik Y, Kharouf N, Huckert M, Hamm P, Hemmerlé J, Manière MC, Friant S, Dollfus H, Bloch-Zupan A. A New Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta. Frontiers in Genetics. 10: 504. PMID 31191616 DOI: 10.3389/Fgene.2019.00504  0.44
2019 Scheidecker S, Bär 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, et al. Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. Human Mutation. PMID 31116475 DOI: 10.1002/Humu.23799  0.44
2018 Sainio MT, Välipakka 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. Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy. Journal of Neurology. PMID 30515627 DOI: 10.1007/S00415-018-9137-8  0.4
2018 Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanché H, Decker E, Kloth K, Klaus G, ... ... Friant S, et al. Whole genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. Human Mutation. PMID 29688594 DOI: 10.1002/Humu.23539  0.44
2017 Cowling BS, Prokic I, Tasfaout H, Rabai A, Humbert F, Rinaldi B, Nicot AS, Kretz C, Friant S, Roux A, Laporte J. Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation. The Journal of Clinical Investigation. PMID 29130937 DOI: 10.1172/Jci90542  0.4
2017 Kannan M, Bayam E, Wagner C, Rinaldi B, Kretz PF, Tilly P, Roos M, McGillewie L, Bär S, Minocha S, Chevalier C, Po C, Chelly J, Mandel JL, ... ... Friant S, et al. WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. Proceedings of the National Academy of Sciences of the United States of America. PMID 29078390 DOI: 10.1073/Pnas.1713625114  0.44
2017 Raess MA, Cowling BS, Bertazzi DL, Kretz C, Rinaldi B, Xuereb JM, Kessler P, Romero NB, Payrastre B, Friant S, Laporte J. Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy. Human Molecular Genetics. 26: 3736-3748. PMID 28934386 DOI: 10.1093/Hmg/Ddx258  0.44
2017 De Craene JO, Bertazzi DL, Bär S, Friant S. Phosphoinositides, Major Actors in Membrane Trafficking and Lipid Signaling Pathways. International Journal of Molecular Sciences. 18. PMID 28294977 DOI: 10.3390/Ijms18030634  0.56
2016 Stoetzel C, Bär S, De Craene JO, Scheidecker S, Etard C, Chicher J, Reck JR, Perrault I, Geoffroy V, Chennen K, Strähle U, Hammann P, Friant S, Dollfus H. A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi. Nature Communications. 7: 13586. PMID 27882921 DOI: 10.1038/Ncomms13586  0.56
2016 Debard S, Bader G, De Craene JO, Enkler L, Bär S, Laporte D, Myslinski E, Senger B, Friant S, Dominique Becker H. Nonconventional localizations of cytosolic aminoacyl-tRNA synthetases in yeast and human cells. Methods (San Diego, Calif.). PMID 27725303 DOI: 10.1016/J.Ymeth.2016.09.017  0.56
2015 Bertazzi DL, De Craene JO, Bär S, Sanjuan-Vazquez M, Raess MA, Friant S. [Phosphoinositides: lipidic essential actors in the intracellular traffic]. Biologie Aujourd'Hui. 209: 97-109. PMID 26115715 DOI: 10.1051/Jbio/2015006  0.56
2015 Feyder S, De Craene JO, Bär S, Bertazzi DL, Friant S. Membrane trafficking in the yeast Saccharomyces cerevisiae model. International Journal of Molecular Sciences. 16: 1509-25. PMID 25584613 DOI: 10.3390/Ijms16011509  0.44
2015 Morvan J, de Craene JO, Rinaldi B, Addis V, Misslin C, Friant S. Btn3 regulates the endosomal sorting function of the yeast Ent3 epsin, an adaptor for SNARE proteins. Journal of Cell Science. 128: 706-16. PMID 25512335 DOI: 10.1242/Jcs.159699  0.48
2014 De Craene JO, Courte F, Rinaldi B, Fitterer C, Herranz MC, Schmitt-Keichinger C, Ritzenthaler C, Friant S. Study of the plant COPII vesicle coat subunits by functional complementation of yeast Saccharomyces cerevisiae mutants. Plos One. 9: e90072. PMID 24587212 DOI: 10.1371/Journal.Pone.0090072  0.48
2013 Spiess M, de Craene JO, Michelot A, Rinaldi B, Huber A, Drubin DG, Winsor B, Friant S. Lsb1 is a negative regulator of las17 dependent actin polymerization involved in endocytosis. Plos One. 8: e61147. PMID 23577202 DOI: 10.1371/Journal.Pone.0061147  0.52
2012 Amoasii L, Bertazzi DL, Tronchère H, Hnia K, Chicanne G, Rinaldi B, Cowling BS, Ferry A, Klaholz B, Payrastre B, Laporte J, Friant S. Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice. Plos Genetics. 8: e1002965. PMID 23071445 DOI: 10.1371/Journal.Pgen.1002965  0.48
2012 Morvan J, Rinaldi B, Friant S. Pkh1/2-dependent phosphorylation of Vps27 regulates ESCRT-I recruitment to endosomes. Molecular Biology of the Cell. 23: 4054-64. PMID 22918958 DOI: 10.1091/Mbc.E12-01-0001  0.4
2012 De Craene JO, Ripp R, Lecompte O, Thompson JD, Poch O, Friant S. Evolutionary analysis of the ENTH/ANTH/VHS protein superfamily reveals a coevolution between membrane trafficking and metabolism. Bmc Genomics. 13: 297. PMID 22748146 DOI: 10.1186/1471-2164-13-297  0.48
2003 Friant S, Meier KD, Riezman H. Increased ubiquitin-dependent degradation can replace the essential requirement for heat shock protein induction. The Embo Journal. 22: 3783-91. PMID 12881413 DOI: 10.1093/Emboj/Cdg375  0.8
2000 Zanolari B, Friant S, Funato K, Sütterlin C, Stevenson BJ, Riezman H. Sphingoid base synthesis requirement for endocytosis in Saccharomyces cerevisiae. The Embo Journal. 19: 2824-33. PMID 10856228 DOI: 10.1093/Emboj/19.12.2824  0.6
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