Hélène Puccio – PGNM

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Events

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Defining pathogenic mechanisms of Friedreich’s ataxia to reveal opportunities for therapeutic intervention

Abstract Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by mutations in the frataxin gene (FXN) that reduce […]

Amphi 2 Bis (2nd floor), Faculté de Médecine Lyon-Est Rockefeller

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Understanding circuit-mediated vulnerability in SCA1

Pr Smita Saxena

Abstract Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodegenerative disease caused by a polyglutamine (PolyQ) expansion in the Ataxin-1 […]

crowd of people sitting on chairs inside room

Exploring neurofilament biology and autophagy in neuromuscular diseases:from Giant Axonal Neuropathy to Charcot-Marie-Tooth diseases

Abstract Our group is interested in inherited neuromuscular diseases, and in particular in axonal forms of Charcot-Marie-Tooth diseases. Our focus […]

Salle Médiathèque Paul ZECH

Projects

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

Principal investigator Hélène Puccio

Team: Fundamental and pathophysiological mechanisms implicated in ataxia

Identification and validation of biomarkers for FA and ARCA2

Principal investigator Hélène Puccio

Team: Fundamental and pathophysiological mechanisms implicated in ataxia

Developing pre-clinical therapeutic approaches

Principal investigator Hélène Puccio

Team: Fundamental and pathophysiological mechanisms implicated in ataxia

Publications

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.

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.

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.

Federica Pilotto, Andrea del Bondio, Hélène Puccio, Hereditary Ataxias: From Bench to Clinic, Where Do We Stand?, Cells.

Federica Pilotto, Deepika Chellapandi, Hélène Puccio, Omaveloxolone: a groundbreaking milestone as the first FDA-approved drug for Friedreich ataxia, Trends in Molecular Medicine.

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.

Deepika Chellapandi, Valentine Mosbach, Marie Paschaki, Helene Puccio, Recent Advances on Therapeutic Approaches for Friedreich’s Ataxia: New Pharmacological Targets, Protein, and Gene Therapy, .

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.

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.