Publications by authors named "Helene Puccio"

41Publications

High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models.

Mol Ther Methods Clin Dev 2020 Dec 1;19:120-138. Epub 2020 Sep 1.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch 67404, France.

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December 2020

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

Methods Mol Biol 2020 ;2056:241-253

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.

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November 2020

Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies.

Neuron 2019 02;101(4):560-583

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address:

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February 2019

Correction of half the cardiomyocytes fully rescue Friedreich ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.

Hum Mol Genet 2019 04;28(8):1274-1285

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Department of Translational Medicine and Neurogenetics, Illkirch, France.

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April 2019

Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.

Mol Ther 2018 08 28;26(8):1940-1952. Epub 2018 May 28.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67404 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U1258, 67404 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67404 Illkirch, France; Université de Strasbourg, 67000 Strasbourg, France. Electronic address:

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August 2018

ISCA1 is essential for mitochondrial FeS biogenesis in vivo.

Nat Commun 2017 05 11;8:15124. Epub 2017 May 11.

IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire) Translational Medicine and Neurogenetics Department, 67404 Illkirch, France.

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May 2017

Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency.

Cell Metab 2015 Feb;21(2):311-323

Translational Medecine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France; INSERM, U596, 67400 Illkirch, France; CNRS, UMR7104, 67400 Illkirch, France; Université de Strasbourg, 67000 Strasbourg, France; Collège de France, Chaire de génétique humaine, 67400 Illkirch, France. Electronic address:

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February 2015

[Toward gene therapy for Friedreich ataxia-associated cardiomyopathy].

Med Sci (Paris) 2014 Oct 14;30(10):842-5. Epub 2014 Oct 14.

Département de médecine translationnelle et neurogénétique, Institut de génétique et de biologie moléculaire et cellulaire (IGBMC), 1, rue Laurent Fries, BP 10142, 67404 Illkirch, France - Inserm, U596, 1, rue Laurent Fries, BP 10142, 67404 Illkirch, France - CNRS, UMR7104, 1, rue Laurent Fries, BP 10142, 67404 Illkirch, France - Université de Strasbourg, Strasbourg, France - Collège de France, chaire de génétique humaine, Illkirch, France.

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October 2014

An overview of current mouse models recapitulating coenzyme q10 deficiency syndrome.

Mol Syndromol 2014 Jul;5(3-4):180-6

Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Strasbourg, France ; Inserm, U596, Strasbourg, France ; CNRS, UMR7104, Strasbourg, France ; Collège de France, Chaire de Génétique Humaine, Illkirch, Strasbourg, France ; Université de Strasbourg, Strasbourg, France.

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July 2014

Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.

Front Pharmacol 2014 3;5:130. Epub 2014 Jun 3.

Department of Translational Medecine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire Illkirch, France ; INSERM, U596 Illkirch, France ; CNRS, UMR7104 Illkirch, France ; Université de Strasbourg Strasbourg, France ; Chaire de Génétique Humaine, Collège de France Illkirch, France.

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June 2014

Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia.

Nat Med 2014 May 6;20(5):542-7. Epub 2014 Apr 6.

1] Départment de Médecine Translationnelle et Neurogénétique, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. [2] INSERM, U596, Illkirch, France. [3] CNRS, UMR7104, Illkirch, France. [4] Université de Strasbourg, Strasbourg, France. [5] Collège de France, Chaire de génétique humaine, Illkirch, France.

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May 2014

Mammalian Fe-S cluster biogenesis and its implication in disease.

Biochimie 2014 May 17;100:48-60. Epub 2014 Jan 17.

Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France; Inserm, U596, Illkirch, France; CNRS, UMR7104, Illkirch, France; Université de Strasbourg, Strasbourg, France; Collège de France, Chaire de génétique humaine, Illkirch, France. Electronic address:

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May 2014

The molecular genetics of coenzyme Q biosynthesis in health and disease.

Biochimie 2014 May 16;100:78-87. Epub 2013 Dec 16.

Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France; Inserm, U596, Illkirch, France; CNRS, UMR 7104, Illkirch, France; Université de Strasbourg, Strasbourg, France; Collège de France, Chaire de génétique humaine, Illkirch, France. Electronic address:

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May 2014

Animal and cellular models of Friedreich ataxia.

J Neurochem 2013 Aug;126 Suppl 1:65-79

Translational Medecine and Neurogenetics, IGBMC-Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

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August 2013

Frataxin: a protein in search for a function.

J Neurochem 2013 Aug;126 Suppl 1:43-52

MRC National Institute for Medical Research, London, UK.

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August 2013

Mammalian frataxin controls sulfur production and iron entry during de novo Fe4S4 cluster assembly.

J Am Chem Soc 2013 Jan 7;135(2):733-40. Epub 2013 Jan 7.

Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

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January 2013