Puccio H - Search Results

1

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

Colin F, Martelli A, Clémancey M, Latour JM, Gambarelli S, Zeppieri L, Birck C, Page A, Puccio H, Ollagnier de Choudens S. Colin F, et al. Among authors: puccio h. J Am Chem Soc. 2013 Jan 16;135(2):733-40. doi: 10.1021/ja308736e. Epub 2013 Jan 7. J Am Chem Soc. 2013. PMID: 23265191

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

Recent advances in the molecular pathogenesis of Friedreich ataxia.

Puccio H, Koenig M. Puccio H, et al. Hum Mol Genet. 2000 Apr 12;9(6):887-92. doi: 10.1093/hmg/9.6.887. Hum Mol Genet. 2000. PMID: 10767311 Review.

4

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.

Cossée M, Puccio H, Gansmuller A, Koutnikova H, Dierich A, LeMeur M, Fischbeck K, Dollé P, Koenig M. Cossée M, et al. Among authors: puccio h. Hum Mol Genet. 2000 May 1;9(8):1219-26. doi: 10.1093/hmg/9.8.1219. Hum Mol Genet. 2000. PMID: 10767347

5

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.

Puccio H, Simon D, Cossée M, Criqui-Filipe P, Tiziano F, Melki J, Hindelang C, Matyas R, Rustin P, Koenig M. Puccio H, et al. Nat Genet. 2001 Feb;27(2):181-6. doi: 10.1038/84818. Nat Genet. 2001. PMID: 11175786

6

Friedreich ataxia: a paradigm for mitochondrial diseases.

Puccio H, Koenig M. Puccio H, et al. Curr Opin Genet Dev. 2002 Jun;12(3):272-7. doi: 10.1016/s0959-437x(02)00298-8. Curr Opin Genet Dev. 2002. PMID: 12076669 Review.

7

Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia.

Simon D, Seznec H, Gansmuller A, Carelle N, Weber P, Metzger D, Rustin P, Koenig M, Puccio H. Simon D, et al. Among authors: puccio h. J Neurosci. 2004 Feb 25;24(8):1987-95. doi: 10.1523/JNEUROSCI.4549-03.2004. J Neurosci. 2004. PMID: 14985441 Free PMC article.

8

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

9

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

10

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

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