Martelli A - Search Results

1

The Salih ataxia mutation impairs Rubicon endosomal localization.

Assoum M, Salih MA, Drouot N, Hnia K, Martelli A, Koenig M. Assoum M, et al. Among authors: martelli a. Cerebellum. 2013 Dec;12(6):835-40. doi: 10.1007/s12311-013-0489-4. Cerebellum. 2013. PMID: 23728897

2

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: martelli a. PLoS One. 2009 Jul 24;4(7):e6379. doi: 10.1371/journal.pone.0006379. PLoS One. 2009. PMID: 19629184 Free PMC article.

3

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. 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

4

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

Martelli A, Puccio H. Martelli A, et al. Front Pharmacol. 2014 Jun 3;5:130. doi: 10.3389/fphar.2014.00130. eCollection 2014. Front Pharmacol. 2014. PMID: 24917819 Free PMC article. Review.

5

Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models.

Martelli A, Napierala M, Puccio H. Martelli A, et al. Dis Model Mech. 2012 Mar;5(2):165-76. doi: 10.1242/dmm.008706. Dis Model Mech. 2012. PMID: 22382366 Free PMC article. Review.

6

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. 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.

7

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

Martelli A, Schmucker S, Reutenauer L, Mathieu JRR, Peyssonnaux C, Karim Z, Puy H, Galy B, Hentze MW, Puccio H. Martelli A, et al. Cell Metab. 2015 Feb 3;21(2):311-323. doi: 10.1016/j.cmet.2015.01.010. Cell Metab. 2015. PMID: 25651183 Free article.

8

The diabetes drug target MitoNEET governs a novel trafficking pathway to rebuild an Fe-S cluster into cytosolic aconitase/iron regulatory protein 1.

Ferecatu I, Gonçalves S, Golinelli-Cohen MP, Clémancey M, Martelli A, Riquier S, Guittet E, Latour JM, Puccio H, Drapier JC, Lescop E, Bouton C. Ferecatu I, et al. Among authors: martelli a. J Biol Chem. 2014 Oct 10;289(41):28070-86. doi: 10.1074/jbc.M114.548438. Epub 2014 Jul 10. J Biol Chem. 2014. PMID: 25012650 Free PMC article.

9

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: martelli a. 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

10

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: martelli a. PLoS One. 2011 Jan 26;6(1):e16199. doi: 10.1371/journal.pone.0016199. PLoS One. 2011. PMID: 21298097 Free PMC article.

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