Puccio H - Search Results

1

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

Belbellaa B, Reutenauer L, Messaddeq N, Monassier L, Puccio H. Belbellaa B, et al. Among authors: puccio h. Mol Ther Methods Clin Dev. 2020 Sep 1;19:120-138. doi: 10.1016/j.omtm.2020.08.018. eCollection 2020 Dec 11. Mol Ther Methods Clin Dev. 2020. PMID: 33209958 Free PMC article.

2

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.

Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, Subramony S, Pandolfo M, Schulz JB, Lin K, Delatycki MB; Clinical Management Guidelines Writing Group. Corben LA, et al. Orphanet J Rare Dis. 2022 Nov 12;17(1):415. doi: 10.1186/s13023-022-02568-3. Orphanet J Rare Dis. 2022. PMID: 36371255 Free PMC article.

3

Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia.

Seznec H, Simon D, Monassier L, Criqui-Filipe P, Gansmuller A, Rustin P, Koenig M, Puccio H. Seznec H, et al. Among authors: puccio h. Hum Mol Genet. 2004 May 15;13(10):1017-24. doi: 10.1093/hmg/ddh114. Epub 2004 Mar 17. Hum Mol Genet. 2004. PMID: 15028670

4

Friedreich ataxia: the oxidative stress paradox.

Seznec H, Simon D, Bouton C, Reutenauer L, Hertzog A, Golik P, Procaccio V, Patel M, Drapier JC, Koenig M, Puccio H. Seznec H, et al. Among authors: puccio h. Hum Mol Genet. 2005 Feb 15;14(4):463-74. doi: 10.1093/hmg/ddi042. Epub 2004 Dec 22. Hum Mol Genet. 2005. PMID: 15615771

5

Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.

Schoenfeld RA, Napoli E, Wong A, Zhan S, Reutenauer L, Morin D, Buckpitt AR, Taroni F, Lonnerdal B, Ristow M, Puccio H, Cortopassi GA. Schoenfeld RA, et al. Among authors: puccio h. Hum Mol Genet. 2005 Dec 15;14(24):3787-99. doi: 10.1093/hmg/ddi393. Epub 2005 Oct 20. Hum Mol Genet. 2005. PMID: 16239244

6

Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues.

Martelli A, Wattenhofer-Donzé M, Schmucker S, Bouvet S, Reutenauer L, Puccio H. Martelli A, et al. Among authors: puccio h. Hum Mol Genet. 2007 Nov 15;16(22):2651-8. doi: 10.1093/hmg/ddm163. Epub 2007 Jun 27. Hum Mol Genet. 2007. PMID: 17597094

7

The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.

Calmels N, Schmucker S, Wattenhofer-Donzé M, Martelli A, Vaucamps N, Reutenauer L, Messaddeq N, Bouton C, Koenig M, Puccio H. Calmels N, et al. Among authors: puccio h. PLoS One. 2009 Jul 24;4(7):e6379. doi: 10.1371/journal.pone.0006379. PLoS One. 2009. PMID: 19629184 Free PMC article.

8

Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen.

Calmels N, Seznec H, Villa P, Reutenauer L, Hibert M, Haiech J, Rustin P, Koenig M, Puccio H. Calmels N, et al. Among authors: puccio h. BMC Neurol. 2009 Aug 24;9:46. doi: 10.1186/1471-2377-9-46. BMC Neurol. 2009. PMID: 19703283 Free PMC article.

9

Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.

Schmucker S, Martelli A, Colin F, Page A, Wattenhofer-Donzé M, Reutenauer L, Puccio H. Schmucker S, et al. Among authors: puccio h. PLoS One. 2011 Jan 26;6(1):e16199. doi: 10.1371/journal.pone.0016199. PLoS One. 2011. PMID: 21298097 Free PMC article.

10

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

Martelli A, Friedman LS, Reutenauer L, Messaddeq N, Perlman SL, Lynch DR, Fedosov K, Schulz JB, Pandolfo M, Puccio H. Martelli A, et al. Among authors: puccio h. Dis Model Mech. 2012 Nov;5(6):860-9. doi: 10.1242/dmm.009829. Epub 2012 Jun 26. Dis Model Mech. 2012. PMID: 22736457 Free PMC article.

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