Publications by authors named "Helene Puccio"

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Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies.
Brent L Fogel, Thomas Klopstock, David R Lynch, Francesca Maltecca, Mayank Verma, Hélène Puccio

Ann Neurol· September 2025

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Partial Bypass of Frataxin Deficiency by ISCU M141I Restores Cytosolic and Nuclear Fe-S Cluster Assembly.
Valentine Mosbach, Nunziata Maio, Nadège Diedhiou, Adèle Hennick, Laure Dall'Agnol, Puccio H Hélène

bioRxiv· September 2025

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mitoXplorer 3.0, A Web Tool for Exploring Mitochondrial Dynamics in Single-cell RNA-seq Data.
Margaux Haering, Andrea Del Bondio, Helene Puccio, Bianca H Habermann

J Mol Biol· August 2025

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Muscle mTOR controls iron homeostasis and ferritinophagy via NRF2, HIFs and AKT/PKB signaling pathways.
Agnès Conjard-Duplany, Alexis Osseni, Aline Lamboux, Sandrine Mouradian, Flavien Picard, Hélène Puccio

Cell Mol Life Sci· April 2025

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Epidermal maintenance of Langerhans cells relies on autophagy-regulated lipid metabolism.
Florent Arbogast, Raquel Sal-Carro, Wacym Boufenghour, Quentin Frenger, Delphine Bouis, Hélène Puccio

J Cell Biol· February 2025

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A multiple animal and cellular models approach to study frataxin deficiency in Friedreich Ataxia.
Valentine Mosbach, Hélène Puccio

Biochim Biophys Acta Mol Cell Res· October 2024

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

Trends Mol Med· February 2024

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

Cells· February 2024

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Correction: Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency.
Nicole M Sayles, Jill S Napierala, Josef Anrather, Nadège Diedhiou, Jixue Li, Hélène Puccio

Dis Model Mech· January 2024

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Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency.
Nicole M Sayles, Jill S Napierala, Josef Anrather, Nadège Diedhiou, Jixue Li, Hélène Puccio

Dis Model Mech· October 2023

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Mitochondrial dysfunction and calcium dysregulation in COQ8A-ataxia Purkinje neurons are rescued by CoQ10 treatment.
Ioannis Manolaras, Andrea Del Bondio, Olivier Griso, Laurence Reutenauer, Aurélie Eisenmann, Hélène Puccio

Brain· September 2023

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Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Arnaud Jacquier, Julian Theuriet, Fanny Fontaine, Valentine Mosbach, Nicolas Lacoste, Hélène Puccio

Brain· August 2023

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Proprioceptors-enriched neuronal cultures from induced pluripotent stem cells from Friedreich ataxia patients show altered transcriptomic and proteomic profiles, abnormal neurite extension, and impaired electrophysiological properties.
Chiara Dionisi, Marine Chazalon, Myriam Rai, Céline Keime, Virginie Imbault, Hélène Puccio

Brain Commun· January 2023

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Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
Solveig Montaut, Nadège Diedhiou, Pauline Fahrer, Cécilia Marelli, Benoit Lhermitte, Hélène Puccio

J Neurol· September 2021

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Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Andreas Traschütz, Andrea Cortese, Selina Reich, Natalia Dominik, Jennifer Faber, Helene Puccio

Neurology· March 2021

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High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models.
Brahim Belbellaa, Laurence Reutenauer, Nadia Messaddeq, Laurent Monassier, Hélène Puccio

Mol Ther Methods Clin Dev· December 2020

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Primary Cultures of Pure Embryonic Dorsal Root Ganglia Sensory Neurons as a New Cellular Model for Friedreich's Ataxia.
Olivier Griso, Hélène Puccio

Methods Mol Biol· November 2020

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Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H Murray, Craig A Bingman, Hélène Puccio

Ann Neurol· August 2020

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Correction of half the cardiomyocytes fully rescue Friedreich ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.
Brahim Belbellaa, Laurence Reutenauer, Laurent Monassier, Hélène Puccio

Hum Mol Genet· April 2019

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Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies.
Matthis Synofzik, Hélène Puccio, Fanny Mochel, Ludger Schöls

Neuron· February 2019

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Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.
Françoise Piguet, Charline de Montigny, Nadège Vaucamps, Laurence Reutenauer, Aurélie Eisenmann, Hélène Puccio

Mol Ther· August 2018

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ISCA1 is essential for mitochondrial FeS biogenesis in vivo.
Lena Kristina Beilschmidt, Sandrine Ollagnier de Choudens, Marjorie Fournier, Ioannis Sanakis, Marc-André Hograindleur, Hélène Puccio

Nat Commun· May 2017

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Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity.
Jonathan A Stefely, Floriana Licitra, Leila Laredj, Andrew G Reidenbach, Zachary A Kemmerer, Hélène Puccio

Mol Cell· August 2016

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Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency.
Alain Martelli, Stéphane Schmucker, Laurence Reutenauer, Jacques R R Mathieu, Carole Peyssonnaux, Hélène Puccio

Cell Metab· February 2015

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[Toward gene therapy for Friedreich ataxia-associated cardiomyopathy].
Brahim Belbellaa, Hélène Puccio

Med Sci (Paris)· October 2014

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