Browsing Ciències de la Salut by Author "Sanchez, Mayka"

Now showing items 1-20 of 20

    • A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria 

      Ducamp, Sarah; Luscieti, Sara; Ferrer-Cortès, Xènia; Nicolas, Gaël; Manceau, Hana; Peoc'h, Katell; Yien, Yvette Y.; Kannengiesser, Caroline; Gouya, Laurent; Puy, Herve; Sanchez, Mayka (Haematologica, 2021)
      Porphyrias are a group of eight genetically distinct disorders, each resulting from a partial deficiency or gain-offunction of a specific enzyme in the heme biosynthetic pathway.1 Porphyrias are inherited ...

    • An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice 

      Roy, Cindy N.; Custodio, Angel O.; de Graaf, Jos; Schneider, Susanne; Akpan, Imo; Montross, Lynne K.; Sanchez, Mayka; Gaudino, Alessandro; Hentze, Matthias W.; Andrews, Nancy C.; Muckenthaler, Martina U. (Nature Genetics, 2004)
      Inflammation influences iron balance in the whole organism. A common clinical manifestation of these changes is anemia of chronic disease (ACD; also called anemia of inflammation). Inflammation reduces ...

    • Control of systemic iron homeostasis by the 3’ iron-responsive element of divalent metal transporter 1 in mice 

      Tybl, Elisabeth; Gunshin, Hiromi; Gupta, Sanjay; Barrientos, Tomasa; Bonadonna, Michael; Celma Nos, Ferran; Palais, Gael; Karim, Zoubida; Sanchez, Mayka; Andrews, Nancy C.; Galy, Bruno (HemaSphere, 2020)
      Tight control of intestinal iron absorption is required to avoid both iron insufficiency and excess.1 Dietary nonheme iron is taken up by absorptive enterocytes via the apical iron transporter DMT1 ...

    • Functional and clinical impact of novel Tmprss6 variants in iron-refractory iron-deficiency anemia patients and genotype–phenotype studies 

      De Falco, Luigia; Silvestri, Laura; Kannengiesser, Caroline; Morán, Erica; Oudin, Claire; Rausa, Marco; Bruno, Mariasole; Aranda, Jessica; Argiles, Bienvenida; Yenicesu, Idil; Falcon-Rodriguez, Maria; Yilmaz-Keskin, Ebru; Kocak, Ulker; Beaumont, Carole; Camaschella, Clara; Iolascon, Achille; Grandchamp, Bernard; Sanchez, Mayka (Human Mutation, 2014)
      Iron-refractory iron-deficiency anemia (IRIDA) is a rare autosomal-recessive disorder characterized by hypochromic microcytic anemia, low transferrin saturation, and inappropriate high levels of the ...

    • Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis 

      Vila Cuenca, Marc; Marchi, Giacomo; Barqué, Anna; Esteban-Jurado, Clara; Marchetto, Alessandro; Giorgetti, Alejandro; Chelban, Viorica; Houlden, Henry; Wood, Nicholas W.; Piubelli, Chiara; Dorigatti Borges, Marina; Martins de Albuquerque, Dulcinéia; Yotsumoto Fertrin, Kleber; Jové-Buxeda, Ester; Sanchez-Delgado, Jordi; Baena-Díez, Neus; Burnyte, Birute; Utkus, Algirdas; Busti, Fabiana; Kaubrys, Gintaras; Suku, Eda; Kowalczyk, Kamil; Karaszewski, Bartosz; Porter, John B.; Pollard, Sally; Eleftheriou, Perla; Bignell, Patricia; Girelli, Domenico; Sanchez, Mayka (International Journal of Molecular Sciences, 2020)
      Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive neurological symptoms due to iron accumulation ...

    • Identification of target mRNAs of regulatory RNA-binding proteins using mRNP immunopurification and microarrays 

      Sanchez, Mayka; Galy, Bruno; Hentze, Matthias W.; Muckenthaler, Martina U. (Nature Protocols, 2007)
      RNA-binding proteins (RBPs) frequently regulate the post-transcriptional fate of target mRNAs. To identify novel target mRNAs of RBPs, we incubate total RNA with recombinant RBP and immunoselect the ...

    • Iron accumulation drives fibrosis, senescence and the senescence-associated secretory phenotype 

      Maus, Mate; López-Polo, Vanessa; Mateo, Lidia; Lafarga, Miguel; Aguilera, Mònica; De Lama, Eugenia; Meyer, Kathleen; Sola, Anna; Lopez-Martinez, Cecilia; López-Alonso, Ines; Guasch-Piqueras, Marc; Hernandez-Gonzalez, Fernanda; Chaib, Selim; Rovira, Miguel; Sanchez, Mayka; Faner, Rosa; Agusti, Alvar; Diéguez-Hurtado, Rodrigo; Ortega, Sagrario; Manonelles, Anna; Engelhardt, Stefan; Monteiro, Freddy; Stephan-Otto Attolini, Camille; Prats, Neus; Albaiceta, Guillermo; Cruzado, Josep M.; Serrano, Manuel (Nature Metabolism, 2023)
      Fibrogenesis is part of a normal protective response to tissue injury that can become irreversible and progressive, leading to fatal diseases. Senescent cells are a main driver of fibrotic diseases ...

    • Iron refractory iron deficiency anemia 

      De Falco, Luigia; Sanchez, Mayka; Silvestri, Laura; Kannengiesser, Caroline; Muckenthaler, Martina U.; Iolascon, Achille; Gouya, Laurent; Camaschella, Clara; Beaumont, Carole (Haematologica, 2013)
      Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6In vitro gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an ...

    • Iron regulatory protein-1 and -2: transcriptome-wide definition of binding mRNAs and shaping of the cellular proteome by iron regulatory proteins 

      Sanchez, Mayka; Galy, Bruno; Schwanhaeusser, Bjoern; Blake, Jonathon; Bähr-Ivacevic, Tomi; Benes, Vladimir; Selbach, Matthias; Muckenthaler, Martina U.; Hentze, Matthias W. (Blood, 2011)
      Iron regulatory proteins (IRPs) 1 and 2 are RNA-binding proteins that control cellular iron metabolism by binding to conserved RNA motifs called iron-responsive elements (IREs). The currently known ...

    • Iron-regulatory proteins limit hypoxia-inducible factor 2α expression in iron deficiency 

      Sanchez, Mayka; Galy, Bruno; Muckenthaler, Martina U.; Hentze, Matthias W. (Nature Structural & Molecular Biology, 2007)
      Hypoxia stimulates erythropoiesis, the major iron-utilization pathway. We report the discovery of a conserved, functional iron-responsive element (IRE) in the 5′ untranslated region of the messenger RNA ...

    • The IronChip evaluation package: a package of perl modules for robust analysis of custom microarrays 

      Vainshtein, Yevhen; Sanchez, Mayka; Brazma, Alvis; W. Hentze, Matthias; Dandekar, Thomas; Muckenthaler, Martina U. (BMC Bioinformatics, 2010)
      Background: Gene expression studies greatly contribute to our understanding of complex relationships in gene regulatory networks. However, the complexity of array design, production and manipulations ...

    • Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2α iron-responsive element? 

      Percy, Melanie J.; Sanchez, Mayka; Swierczek, Sabina; McMullin, Mary Frances; Mojica-Henshaw, Mariluz P.; Muckenthaler, Martina U.; Prchal, Josef T.; Hentze, Matthias W. (Blood, 2007)

    • L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases 

      Cadenas, Beatriz; Fita-Torró, Josep; Bermúdez-Cortés, Mar; Hernandez-Rodriguez, Inés; Fuster, José Luis; Llinares, María Esther; Galera, Ana María; Lee Romero, Julia; Pérez-Montero, Santiago; Tornador, Cristian; Sanchez, Mayka (Pharmaceuticals, 2019)
      Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin ...

    • Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms 

      Ramsay, Andrew J.; Quesada, Victor; Sanchez, Mayka; Garabaya, Cecilia; Sardà, María P.; Baiget, Montserrat; Remacha, Angel; Velasco, Gloria; López-Otín, Carlos (Human Molecular Genetics, 2009)
      Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with an iron-refractory iron deficiency anemia (IRIDA) due to elevated hepcidin levels. Here we describe two ...

    • Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia 

      Kannengiesser, Caroline; Sanchez, Mayka; Sweeney, Marion; Hetet, Gilles; Kerr, Briedgeen; Moran, Erica; Fuster Soler, Jose L.; Maloum, Karim; Matthes, Thomas; Oudot, Caroline; Lascaux, Axelle; Pondarré, Corinne; Sevilla Navarro, Julian; Vidyatilake, Sudharma; Beaumont, Carole; Grandchamp, Bernard; May, Alison (Haematologica, 2011)
      Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a ...

    • Molecular evolution of multiple-level control of heme biosynthesis pathway in animal kingdom 

      Tzou, Wen-Shyong; Chu, Ying; Lin, Tzung-Yi; Hu, Chin-Hwa; Pai, Tun-Wen; Liu, Hsin-Fu; Lin, Han-Jia; Cases, Ildeofonso; Rojas, Ana; Sanchez, Mayka; You, Zong-Ye; Hsu, Ming-Wei (PLoS One, 2014)
      Adaptation of enzymes in a metabolic pathway can occur not only through changes in amino acid sequences but also through variations in transcriptional activation, mRNA splicing and mRNA translation. The ...

    • SIREs: searching for iron-responsive elements 

      Campillos, Monica; Cases, Ildefonso; Hentze, Matthias W.; Sanchez, Mayka (Nucleic Acids Research, 2010-07)
      The iron regulatory protein/iron-responsive element regulatory system plays a crucial role in the post-transcriptional regulation of gene expression and its disruption results in human disease. IREs are ...

    • The actin binding protein profilin 2 is a novel regulator of iron homeostasis 

      Luscieti, Sara; Galy, Bruno; Gutierrez, Lucia; Reinke, Michael; Couso, Jorge; Shvartsman, Maya; Di Pascale, Antonio; Witke, Walter; Hentze, Matthias W.; Pilo Boyl, Pietro; Sanchez, Mayka (Blood, 2017)
      Cellular iron homeostasis is controlled by the iron regulatory proteins (IRPs) 1 and 2 that bind cis-regulatory iron-responsive elements (IRE) on target messenger RNAs (mRNA). We identified profilin 2 ...

    • The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2 

      Riley, Lisa G.; Heeney, Matthew M.; Rudinger-Thirion, Joëlle; Frugier, Magali; Campagna, Dean R.; Zhou, Ronghao; Hale, Gregory A.; Hilliard, Lee M.; Kaplan, Joel A.; Kwiatkowski, Janet L.; Sieff, Colin A.; Steensma, David P.; Rennings, Alexander J.; Simons, Annet; Schaap, Nicolaas; Roodenburg, Richard J.; Kleefstra, Tjitske; Arenillas, Leonor; Fita-Torró, Josep; Ahmed, Rasha; Abboud, Miguel; Bechara, Elie; Farah, Roula; Tamminga, Rienk Y. J.; Bottomley, Sylvia S.; Sanchez, Mayka; Huls, Gerwin; Swinkels, Dorine W.; Christodoulou, John; Fleming, Mark D. (Haematologica, 2018)
      variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for ...

    • Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype 

      Adams, Paul; Altes, Albert; Brissot, Pierre; Butzeck, Barbara; Cabantchik, Ioav; Cançado, Rodolfo; Distante, Sonia; Evans, Patricia; Evans, Robert; Ganz, Tomas; Girelli, Domenico; Hultcrantz, Rolf; McLaren, Gordon; Marris, Ben; Milman, Nils; Nemeth, Elizabeta; Nielsen, Peter; Pineau, Brigitte; Piperno, Alberto; Porto, Graça; Prince, Dianne; Ryan, John; Sanchez, Mayka; Santos, Paulo; Swinkels, Dorine; Teixeira, Emerência; Toska, Ketil; Vanclooster, Annick; White, Desley; Contributors and Hemochromatosis International Taskforce (Hepatology International, 2018)
      Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an ...