Search Results - "Martelli, Alain"

Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism by Fox, Nicholas G., Yu, Xiaodi, Feng, Xidong, Bailey, Henry J., Martelli, Alain, Nabhan, Joseph F., Strain-Damerell, Claire, Bulawa, Christine, Yue, Wyatt W., Han, Seungil

“…The core machinery for de novo biosynthesis of iron-sulfur clusters (ISC), located in the mitochondria matrix, is a five-protein complex containing the…”
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Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex by Schmucker, Stéphane, Martelli, Alain, Colin, Florent, Page, Adeline, Wattenhofer-Donzé, Marie, Reutenauer, Laurence, Puccio, Hélène

“…Frataxin, the mitochondrial protein deficient in Friedreich ataxia, a rare autosomal recessive neurodegenerative disorder, is thought to be involved in…”
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Mammalian Frataxin Controls Sulfur Production and Iron Entry during de Novo Fe4S4 Cluster Assembly by Colin, Florent, Martelli, Alain, Clémancey, Martin, Latour, Jean-Marc, Gambarelli, Serge, Zeppieri, Laura, Birck, Catherine, Page, Adeline, Puccio, Hélène, Ollagnier de Choudens, Sandrine

“…Iron–sulfur (Fe–S) cluster-containing proteins are essential components of cells. In eukaryotes, Fe–S clusters are synthesized by the mitochondrial iron–sulfur…”
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ISCA1 is essential for mitochondrial Fe4S4 biogenesis in vivo by Beilschmidt, Lena Kristina, Ollagnier de Choudens, Sandrine, Fournier, Marjorie, Sanakis, Ioannis, Hograindleur, Marc-André, Clémancey, Martin, Blondin, Geneviève, Schmucker, Stéphane, Eisenmann, Aurélie, Weiss, Amélie, Koebel, Pascale, Messaddeq, Nadia, Puccio, Hélène, Martelli, Alain

“…Mammalian A-type proteins, ISCA1 and ISCA2, are evolutionarily conserved proteins involved in iron–sulfur cluster (Fe–S) biogenesis. Recently, it was shown…”
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Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models by Martelli, Alain, Napierala, Marek, Puccio, Hélène

“…In 1996, a link was identified between Friedreich's ataxia (FRDA), the most common inherited ataxia in men, and alterations in the gene encoding frataxin…”
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Mitochondrial De Novo Assembly of Iron–Sulfur Clusters in Mammals: Complex Matters in a Complex That Matters by Perfitt, Tyler L., Martelli, Alain

“…Iron–sulfur clusters (Fe–S or ISC) are essential cofactors that function in a wide range of biological pathways. In mammalian cells, Fe–S biosynthesis…”
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The in vivo mitochondrial two-step maturation of human frataxin by Schmucker, Stéphane, Argentini, Manuela, Carelle-Calmels, Nadège, Martelli, Alain, Puccio, Hélène

“…Deficiency in the nuclear-encoded mitochondrial protein frataxin causes Friedreich ataxia (FRDA), a progressive neurodegenerative disorder associating…”
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Zinc(II) binding on human wild-type ISCU and Met140 variants modulates NFS1 desulfurase activity by Fox, Nicholas G., Martelli, Alain, Nabhan, Joseph F., Janz, Jay, Borkowska, Oktawia, Bulawa, Christine, Yue, Wyatt W.

“…Human de novo iron-sulfur (Fe-S) assembly complex consists of cysteine desulfurase NFS1, accessory protein ISD11, acyl carrier protein ACP, scaffold protein…”
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In vivo overexpression of frataxin causes toxicity mediated by iron-sulfur cluster deficiency by Huichalaf, Claudia, Perfitt, Tyler L., Kuperman, Anna, Gooch, Renea, Kovi, Ramesh C., Brenneman, Karrie A., Chen, Xian, Hirenallur-Shanthappa, Dinesh, Ma, Tiffany, Assaf, Basel T., Pardo, Ingrid, Franks, Tania, Monarski, Laura, Cheng, Ting-Wen, Le, Kevin, Su, Chunyan, Somanathan, Suryanarayan, Whiteley, Laurence O., Bulawa, Christine, Pregel, Marko J., Martelli, Alain

“…Friedreich's ataxia is a rare disorder resulting from deficiency of frataxin, a mitochondrial protein implicated in the synthesis of iron-sulfur clusters…”
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Correlation between frataxin expression and contractility revealed by in vitro Friedreich's ataxia cardiac tissue models engineered from human pluripotent stem cells by Wong, Andy On-Tik, Wong, Gabriel, Shen, Michael, Chow, Maggie Zi-Ying, Tse, Wan Wai, Gurung, Bimal, Mak, Suet Yee, Lieu, Deborah K, Costa, Kevin D, Chan, Camie W, Martelli, Alain, Nabhan, Joseph F, Li, Ronald A

“…Friedreich's ataxia (FRDA) is an autosomal recessive disease caused by a non-coding mutation in the first intron of the frataxin (FXN) gene that suppresses its…”
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Interest of acridine derivatives in the anticancer chemotherapy by Demeunynck, M, Charmantray, F, Martelli, A

“…DNA is considered as one of the main targets for anticancer drug design. The planar structure of acridines confers to the molecules the ability to bind DNA by…”
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The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia by Calmels, Nadège, Schmucker, Stéphane, Wattenhofer-Donzé, Marie, Martelli, Alain, Vaucamps, Nadège, Reutenauer, Laurence, Messaddeq, Nadia, Bouton, Cécile, Koenig, Michel, Puccio, Hélène

“…Friedreich ataxia (FRDA), the most common form of recessive ataxia, is due to reduced levels of frataxin, a highly conserved mitochondrial iron-chaperone…”
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Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia by Martelli, Alain, Friedman, Lisa S, Reutenauer, Laurence, Messaddeq, Nadia, Perlman, Susan L, Lynch, David R, Fedosov, Kathrin, Schulz, Jörg B, Pandolfo, Massimo, Puccio, Hélène

“…Friedreich's ataxia (FRDA) is the most common hereditary ataxia in the caucasian population and is characterized by a mixed spinocerebellar and sensory ataxia,…”
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Zinc adaptation and resistance to cadmium toxicity in mammalian cells: Molecular insight by proteomic analysis by Rousselet, Estelle, Martelli, Alain, Chevallet, Mireille, Diemer, Hélène, Van Dorsselaer, Alain, Rabilloud, Thierry, Moulis, Jean-Marc

“…To identify proteins involved in cellular adaptive responses to zinc, a comparative proteome analysis between a previously developed high zinc- and…”
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IRP1 Ser-711 is a phosphorylation site, critical for regulation of RNA-binding and aconitase activities by Fillebeen, Carine, Caltagirone, Annie, Martelli, Alain, Moulis, Jean-Marc, Pantopoulos, Kostas

“…In iron-starved cells, IRP1 (iron regulatory protein 1) binds to mRNA iron-responsive elements and controls their translation or stability. In response to…”
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Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation by Martelli, Alain, Puccio, Hélène

“…Friedreich ataxia (FRDA) is the most common recessive ataxia in the Caucasian population and is characterized by a mixed spinocerebellar and sensory ataxia…”
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A modified mouse model of Friedreich's ataxia with conditional Fxn allele homozygosity delays onset of cardiomyopathy by Perfitt, Tyler L, Huichalaf, Claudia, Gooch, Renea, Kuperman, Anna, Ahn, Youngwook, Chen, Xian, Ullas, Soumya, Hirenallur-Shanthappa, Dinesh, Zhan, Yutian, Otis, Diana, Whiteley, Laurence O, Bulawa, Christine, Martelli, Alain

“…Friedreich's ataxia (FA) is an autosomal recessive disorder caused by a deficiency in frataxin (FXN), a mitochondrial protein that plays a critical role in the…”
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GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia by Daher, Raêd, Mansouri, Abdellah, Martelli, Alain, Bayart, Sophie, Manceau, Hana, Callebaut, Isabelle, Moulouel, Boualem, Gouya, Laurent, Puy, Hervé, Kannengiesser, Caroline, Karim, Zoubida

“…Non-syndromic microcytic congenital sideroblastic anemia (cSA) is predominantly caused by defective genes encoding for either ALAS2, the first enzyme of heme…”
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The Diabetes Drug Target MitoNEET Governs a Novel Trafficking Pathway to Rebuild an Fe-S Cluster into Cytosolic Aconitase/Iron Regulatory Protein 1 by Ferecatu, Ioana, Gonçalves, Sergio, Golinelli-Cohen, Marie-Pierre, Clémancey, Martin, Martelli, Alain, Riquier, Sylvie, Guittet, Eric, Latour, Jean-Marc, Puccio, Hélène, Drapier, Jean-Claude, Lescop, Ewen, Bouton, Cécile

“…In eukaryotes, mitochondrial iron-sulfur cluster (ISC), export and cytosolic iron-sulfur cluster assembly (CIA) machineries carry out biogenesis of iron-sulfur…”
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Iron Regulatory Protein 1 Sustains Mitochondrial Iron Loading and Function in Frataxin Deficiency by Martelli, Alain, Schmucker, Stéphane, Reutenauer, Laurence, Mathieu, Jacques R.R., Peyssonnaux, Carole, Karim, Zoubida, Puy, Hervé, Galy, Bruno, Hentze, Matthias W., Puccio, Hélène

“…Mitochondrial iron accumulation is a hallmark of diseases associated with impaired iron-sulfur cluster (Fe-S) biogenesis, such as Friedreich ataxia linked to…”
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