nathalie lefort

Publications

Article dans une revue (8)

Generation of IPi001-A/B/C human induced pluripotent stem cell lines from healthy amniotic fluid cells Mikaël Boullé,Alix F Boucharlat,Ambre Leleu,Céline Banal,Aurélie Coussementet al. Stem Cell Research, 2024, 76, pp.103350. ⟨10.1016/j.scr.2024.103350⟩ Article dans une revue hal-04963919v1
Generation and characterization of induced pluripotent stem cell lines from two patients with recessive dystrophic epidermolysis Bullosa Camille Vincent,Nathalie Lefort,Mathieu Hamlin,Céline Banal,Alain Hovnanianet al. Stem Cell Research, 2023, 69 (10), pp.103104. ⟨10.1016/j.scr.2023.103104⟩ Article dans une revue hal-04963898v1
2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development Lucile Boutaud,Marie Michael,Céline Banal,Damelys Calderon,Sarah Farcyet al. Journal of visualized experiments : JoVE, 2022, 181, ⟨10.3791/62667⟩ Article dans une revue hal-03690521v1
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking Rémi Duclaux-Loras,Corinne Lebreton,Jérémy Berthelet,Fabienne Charbit-Henrion,Ophélie Nicolleet al. Journal of Clinical Investigation, 2022, 132 (10), ⟨10.1172/JCI154997⟩ Article dans une revue hal-03756921v2
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia Ekin Ucuncu,Karthyayani Rajamani,Miranda Wilson,Daniel Medina-Cano,Nami Altinet al. Nature Communications, 2020, 11 (1), pp.6087. ⟨10.1038/s41467-020-19919-y⟩ Article dans une revue hal-03151207v1
High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect Daniel Medina-Cano,Ekin Ucuncu,Lam Nguyen,Michael Nicouleau,Joanna Lipeckaet al. eLife, 2018, 7, ⟨10.7554/eLife.38309⟩ Article dans une revue hal-02347168v1
Association of a common coding polymorphism (N453S) of the cytochrome P450 1B1 (CYP1B1) gene with optic disc cupping and visual field alteration in French patients with primary open-angle glaucoma. Rahma Melki,Nathalie Lefort,Antoine Brézin,Henri-Jean Garchon Molecular Vision, 2005, 11, pp.1012-7 Article dans une revue hal-04974069v1
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma R Melki,Nathalie Lefort Journal of Medical Genetics, 2004, 41 (9), pp.647-651. ⟨10.1136/jmg.2004.020024⟩ Article dans une revue hal-04963940v1

Pré-publication, Document de travail (1)

C-STEM: ENGINEERING NICHE-LIKE MICRO-COMPARTMENTS FOR OPTIMAL AND SCALE-INDEPENDENT EXPANSION OF HUMAN PLURIPOTENT STEM CELLS IN BIOREACTORS Philippe J.R. Cohen,Elisa Luquet,Justine Pletenka,Andrea Leonard,Elise Warteret al. 2021 Pré-publication, Document de travail hal-03396261v1