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Primary Cultures of Pure Embryonic Dorsal Root Ganglia Sensory Neurons as a New Cellular Model for Friedreich's Ataxia.
Griso O(1)(2)(3)(4), Puccio H(5)(6)(7)(8).
Methods Mol Biol 2020
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Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies.
Synofzik M(1), Puccio H(2), Mochel F(3), Schols L(4).
Neuron Feb. 20, 2019
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Correction of half the cardiomyocytes fully rescue Friedreich Ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.
Belbellaa B(1)(2)(3)(4), Reutenauer L(1)(2)(3)(4), Monassier L(5), Puccio H(1)(2)(3)(4).
Hum Mol Genet April 15, 2019
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Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.
Piguet F(1), de Montigny C(1), Vaucamps N(1), Reutenauer L(1), Eisenmann A(1), Puccio H(2).
Mol Ther Aug. 1, 2018
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ISCA1 is essential for mitochondrial Fe4S4 biogenesis in vivo.
Beilschmidt LK(1,)(2,)(3,)(4,)(5), Ollagnier de Choudens S(6,)(7,)(8), Fournier M(1,)(2,)(3,)(4), Sanakis I(9), Hograindleur MA(6,)(7,)(8,)(10), Clemancey M(7,)(8,)(10), Blondin G(7,)(8,)(10), Schmucker S(1,)(2,)(3,)(4,)(5), Eisenmann A(1,)(2,)(3,)(4,)(5), Weiss A(1,)(2,)(3,)(4), Koebel P(1,)(2,)(3,)(4), Messaddeq N(1,)(2,)(3,)(4), Puccio H(1,)(2,)(3,)(4,)(5), Martelli A(1,)(2,)(3,)(4,)(5).
Nat Commun May 11, 2017
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Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity.
Stefely JA(1), Licitra F(2), Laredj L(2), Reidenbach AG(1), Kemmerer ZA(1), Grangeray A(3), Jaeg-Ehret T(2), Minogue CE(4), Ulbrich A(4), Hutchins PD(4), Wilkerson EM(4), Ruan Z(5), Aydin D(6), Hebert AS(7), Guo X(8), Freiberger EC(9), Reutenauer L(2), Jochem A(10), Chergova M(2), Johnson IE(1), Lohman DC(1), Rush MJ(4), Kwiecien NW(4), Singh PK(2), Schlagowski AI(11), Floyd BJ(1), Forsman U(12), Sindelar PJ(13), Westphall MS(7), Pierrel F(14), Zoll J(11), Dal Peraro M(6), Kannan N(5), Bingman CA(9), Coon JJ(15), Isope P(3), Puccio H(16), Pagliarini DJ(17).
Mol Cell Aug. 18, 2016
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Iron Regulatory Protein 1 Sustains Mitochondrial Iron Loading and Function in Frataxin Deficiency.
Martelli A(1), Schmucker S(2), Reutenauer L(2), Mathieu JR(3), Peyssonnaux C(3), Karim Z(4), Puy H(5), Galy B(6), Hentze MW(6), Puccio H(7).
Cell Metab Feb. 3, 2015
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An overview of current mouse models recapitulating coenzyme q10 deficiency syndrome.
Licitra F(1), Puccio H(1).
Mol Syndromol Jul 2014
