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Projects

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Project
2026
Towards a better understanding of the pathophysiology of Friedreich Ataxia (FA) and Cerebellar ataxia with CoQ10 deficiency (ARCA2).

Our goals are to better define the function of the disease proteins and to decipher the cellular and molecular pathways […]

Hélène Puccio
Project
2026
Identification and validation of biomarkers for FA and ARCA2

We aim at investigating in a systematic manner the blood and plasma composition along disease progression in mouse models and […]

Hélène Puccio
Project
2026
Developing pre-clinical therapeutic approaches

To pinpointing therapeutic targets, we are developing cell-based high-throughput screening (HTS) strategies, to identify novel genes, pathways or drugs targeting […]

Hélène Puccio

Publications

2025
Margaux Haering, Andrea Del Bondio, Helene Puccio, Bianca Habermann, mitoXplorer 3.0, A Web Tool for Exploring Mitochondrial Dynamics in Single-cell RNA-seq Data, Journal of Molecular Biology.
2025
Agnès Conjard-Duplany, Alexis Osseni, Aline Lamboux, Sandrine Mouradian, Flavien Picard, Vincent Mo..., Muscle mTOR controls iron homeostasis and ferritinophagy via NRF2, HIFs and AKT/PKB signaling pathways, Cell Mol Life Sci 2025 Apr; 82(1): 178.
2024
Florent Arbogast, Raquel Sal-Carro, Wacym Boufenghour, Quentin Frenger, Delphine Bouis, Louise Filip..., Epidermal maintenance of Langerhans cells relies on autophagy-regulated lipid metabolism, Journal of Cell Biology.
2024
Federica Pilotto, Andrea del Bondio, Hélène Puccio, Hereditary Ataxias: From Bench to Clinic, Where Do We Stand?, Cells.
2024
Federica Pilotto, Deepika Chellapandi, Hélène Puccio, Omaveloxolone: a groundbreaking milestone as the first FDA-approved drug for Friedreich ataxia, Trends in Molecular Medicine.
2024
Hélène Puccio, Valentine Mosbach, A multiple animal and cellular models approach to study frataxin deficiency in Friedreich Ataxia, Biochim Biophys Acta Mol Cell Res 2024 Oct; 1871(7): 119809.
2023
Deepika Chellapandi, Valentine Mosbach, Marie Paschaki, Helene Puccio, Recent Advances on Therapeutic Approaches for Friedreich’s Ataxia: New Pharmacological Targets, Protein, and Gene Therapy, .
2022
Arnaud Jacquier, Julian Theuriet, Fanny Fontaine, Valentine Mosbach, Nicolas Lacoste, Shams Ribault,..., Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy, Brain - A Journal of Neurology.
2022
Arnaud Jacquier, Julian Theuriet, Fanny Fontaine, Valentine Mosbach, Nicolas Lacoste, Shams Ribault,..., Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy, Brain 2023 Aug; 146(8): 3470-3483.