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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 1 août 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 11 mai 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 18 août 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 3 février 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
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Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.
Martelli A, Puccio H.
Front Pharmacol 3 juin 2014
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Mammalian Fe-S cluster biogenesis and its implication in disease.
Beilschmidt LK(1), Puccio HM(2).
Biochimie May 2014
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Pathophysiogical and therapeutic progress in Friedreich ataxia.
Puccio H(1), Anheim M(2), Tranchant C(3).
Rev Neurol (Paris) May 2014
