SÁNCHEZ FERNÁNDEZ, Mayka
Perfil profesor
Professor Col.laborador
Departament de Ciències Bàsiques. Universitat Internacional de Catalunya
Responsable asignatura de Introducción a la Genética en grado de Medicina 2018
Formación Académica
- Biologia- Genètica. Universitat de Barcelona, 2002
- Licenciada en Bioquímica. Universitat de Barcelona, 1996
Publicaciones relevantes
Articles
- Sánchez, M.; Galy, B.; Schwanhaeusser, B.; Blake, J.; Bähr-Ivacevic, T.; Benes, V.; Selbach, M.; Muckenthaler, M.; Hentze, M.W., (2011), "Iron regulatory protein-1 and-2: transcriptome-wide definition of binding mRNAs and shaping of the cellular proteome by iron regulatory proteins", Blood, vol.118, No.22, pp. e168-e179, ISSN: 0006-4971.
- Campillos, M.; Cases, I.; Hentze, M.W.; Sánchez, M., (2010), "SIREs: searching for iron-responsive elements", Nucleic acids research, vol.38, No.sup. 2, pp. W360-W367, ISSN: 0305-1048.
Articles
- Vila-Cuenca, M.; Marchi, G.; Barque, A.; Esteban-Jurado, C.; Marchetto, A.; Giorgetti , A.; Chelban, V.; Houlden, H.; Wood , NW.; Piubelli, C.; Dorigatti-Borges, M.; Martins-de-Albuquerque, D.; Yotsumoto-Fertrin, K.; Jové-Buxeda, E.; Sanchez-Delgado, J.; Baena-Díez, N.; Burnyte, B.; Utkus, A.; Busti, F.; Kaubrys, G.; Suku, E.; Kowalczyk, K.; Karaszewski, B.; Porter, JB.; Pollard, S.; Eleftheriou, P.; Bignell, P.; Girelli, D.; Sánchez, M., (2020), "Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis", International Journal of Molecular Sciences, vol.21, No.7, ISSN: 1422-0067.
- Tornador, C.; Sánchez-Prados, E.; Cadenas, B.; Russo, R.; Venturi, V.; Andolfo, I.; Hernández-Rodriguez, I.; Iolascon, A.; Sánchez, M., (2019), "CoDysAn: a telemedicine tool to improve awareness and diagnosis for patients with congenital dyserythropoietic anemia", Frontiers in Physiology, vol.10, pp. 1063, ISSN: 1664-042X.
- Cadenas, B.; Fita-Torró, J.; Bermúdez-Cortés, M.; Hernández-Rodriguez, I.; Fuster, JL.; Llinares, ME.; Galera, AM.; Romero, JL.; Pérez-Montero, S.; Tornador, C.; Sánchez, M., (2019), "L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases", Pharmaceuticals, vol.12, No.17, ISSN: 1424-8247.
- Riley LG; Heeney, M.; Rudinger-Thirion, J.; Frugier, M.; Campagna, D.R.; Zhou, R.; Hale, G.; Hilliard, LM.; Kaplan, J.A.; Kwiatkowski, J.L.; Sieff, C.A.; Steensma, D.P.; Rennings, A.J.; Simons, A.; Schaap, N.; Roodenburg, R.J.; Kleefstra, T.; Arenillas, L.; Fita-Torró, J.; Ahmed, R.; Abboud, M.; Bechara, E.; Farah, R.; Tamminga, R.Y.J.; Bottomley, S.S.; Sánchez, M.; Swinkels, D.W.; Christodoulou, J.; Fleming, M.D., (2018), "The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2", Haematologica-the Hematology journal, vol.103, No.12, pp. 2008-2015, ISSN: 0390-6078.
- Adams, P.; Altes Hernández, A.; Brissot, P.; Butzeck, B.; Cabantchik, I.; Cançado, R.; Distante, S.; Evans, P.; Evans, R.; Ganz, T.; Girelli, D.; Hultcrantz, R.; McLaren, G.; Marris, B.; Milman, N.; Nemeth, E.; Nielsen, P.; Pineau, B.; Piperno, A.; Porto, G.; Prince, D.; Ryan, J.; Sánchez, M.; Santos, P.; Swinkels, D.; Teixeira, E.; Kosta, K.; Vanclooster, A.; White, D., (2018), "Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype", Hepatology international, vol.12, No.2, pp. 83-88, ISSN: 1936-0533.
- Van de Sompele, S.; Pécheux, L.; Couso, J.; Meunier, A.; Sánchez, M.; De Baere, E., (2017), "Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome.", Scientific Reports, vol.7, No.18025, pp. 1-10, ISSN: 2045-2322.
- Luscieti, S.; Galy, B.; Gutierrez, L.; Reinke, M.; Couso, J.; Shvartsman, M.; Di Pascale, A.; Witke, W.; Hentze, M.W.; Pilo Boyl, P.; Sánchez, M., (2017), "The actin binding protein profilin 2 is a novel regulator of iron homeostasis.", Blood, vol.130, No.17, pp. 1934-1945, ISSN: 0006-4971.
- Barqué, A.; Sánchez, M., (2017), "Cuando el hierro es tóxico", Genética Médica y Genómica, vol.1, No.1, pp. 49-60.
- Engert, A.; Balduini, C.; Brand, A.; Coiffier, B.; European Hematology Research authors, A.; Sánchez, M., (2016), "The European Hematology Association Roadmap for European Hematology Research: a consensus document", Haematologica-the Hematology journal, vol.101, No.2, pp. 115-208, ISSN: 0390-6078.
- Joshi, R.; Shvartsman, M.; Morán, E.; Lois, S.; Aranda, J.; Barqué, A.; de la Cruz, X.; Bruguera, M.; Vagace, J.M.; Gervasini, G.; Sanz, C.; Sánchez, M., (2015), "Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3", Molecular genetics and genomics, vol.3, No.3, pp. 221-232, ISSN: 1617-4615.
- de Falco, L.; Silvestri, L.; Kannengiesser, C.; Morán, E.; Oudin, C.; Rausa, M.; Bruno, M.; Aranda, J.; Argiles, B.; Yenicesu, I.; Falcon-Rodriguez, M.; Yilmaz-Keskin, E.; Kocak, U.; Beaumont, C.; Camaschella, C.; Iolascon, A.; Grandchamp , B.; Sánchez, M., (2014), "Functional and Clinical Impact of Novel Tmprss6 Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies", Human mutation, vol.35, No.11, pp. 1321-1329, ISSN: 1059-7794.
- Teixeira, E.; Borlido-Santos, J.; Brissot, P.; Butzeck, B.; Courtois, F.; Evans, R.W.; Fernau, J.; Nunes, J.A.; Mullett, M.; Paneque, M.; Pineau, B.; Porto, G.; Sorrill, R.; Sánchez, M.; Swinkels, D.W.; Toska, K.; Varkonyi, J.; EFAPH, (2014), "The importance of the general practitioner as an information source for patients with hereditary haemochromatosis", Patient education and counseling, vol.96, No.1, pp. 86-92, ISSN: 0738-3991.
- Altés, A.; Pérez-Lucena, M.J.; Bruguera, M.; Sánchez, M.; Grp Iberico Ferropatologia, (2014), "Systematic approach to the diagnosis of hyperferritinemia", Medicina Clinica, vol.142, No.9, pp. 412-417, ISSN: 1578-8989 00257753.
- Tzou, W.S.; Chu, Y.; Lin, T.Y.; Hu, C.H.; Pai, T.W.; Liu, H.F.; Lin, H.J.; Cases, I.; Rojas, A.; Sánchez, M.; You, Z.Y.; Hsu, M.W., (2014), "Molecular Evolution of Multiple-Level Control of Heme Biosynthesis Pathway in Animal Kingdom", PLoS One, vol.9, No.1, pp. e86718, ISSN: 1932-6203.
- Athiyarath, R.; Arora, N.; Fuster, F.; Schwarzenbacher, R.; Ahmed, R.; George, B.; Chandy, M.; Srivastava, A.; Rojas, A.M.; Sánchez, M.; Edison, E.S., (2013), "Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications", British journal of haematology, vol.163, No.3, pp. 404-407, ISSN: 0007-1048.
- de Falco, L.; Sánchez, M.; Silvestri, L.; Kannengiesser, C.; Muckenthaler, M.; Iolascon, A.; Gouya, L.; Camaschella, C.; Beaumont, C., (2013), "Iron refractory iron deficiency anemia", Haematologica-the Hematology journal, vol.98, No.6, pp. 845-853, ISSN: 0390-6078.
- Luscieti, S.; Tolle, G.; Aranda, J.; Benet-Campos, C.; Risse F.; Morán, E.; Muckenthaler, M.; Sánchez, M., (2013), "Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome", Orphanet journal of rare diseases, vol.8, ISSN: 1750-1172.
- Liu, Z.; Lanford, R.; Mueller, S.; Gerhard, G.S.; Luscieti, S.; Sánchez, M.; Devireddy, L., (2012), "Siderophore-mediated iron trafficking in humans is regulated by iron", Journal of molecular medicine (JMM), vol.90, No.10, pp. 1209-1221, ISSN: 0946-2716.
- Sánchez, M.; Galy, B.; Schwanhaeusser, B.; Blake, J.; Bähr-Ivacevic, T.; Benes, V.; Selbach, M.; Muckenthaler, M.; Hentze, M.W., (2011), "Iron regulatory protein-1 and-2: transcriptome-wide definition of binding mRNAs and shaping of the cellular proteome by iron regulatory proteins", Blood, vol.118, No.22, pp. e168-e179, ISSN: 0006-4971.
- Rodrigues P.N; Gomes, S.; Neves, J.; Gomes-Pereira, S.; Correia-Neves, M.; Nunes-Alves, C.; Stolte, J.; Sánchez, M.; Appelberg, R.; Muckenthaler, M., (2011), "Mycobacteria-induced anaemia revisited: A molecular approach reveals the involvement of NRAMP1 and lipocalin-2, but not of hepcidin", Immunobiology, vol.216, No.10, pp. 1127-1134, ISSN: 0171-2985.
- Kannengiesser, C.; Sánchez, M.; Sweeney, M.; Hetet, G.; Kerr, B.; Moran, E.; Fuster Soler, J.; Maloum, K.; Matthes, T.; Oudot, C.; Lascaux, A.; Pondarre, C.; Sevilla Navarro, J.; Vidyatilake, S.; Beaumont, C.; Grandchamp , B.; May, A., (2011), "Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia", Haematologica-the Hematology journal, vol.96, No.6, pp. 808-813, ISSN: 0390-6078.
- Campillos, M.; Cases, I.; Hentze, M.W.; Sánchez, M., (2010), "SIREs: searching for iron-responsive elements", Nucleic acids research, vol.38, No.sup. 2, pp. W360-W367, ISSN: 0305-1048.
- Vainshtein, Y.; Sánchez, M.; Brazma, A.; Hentze, M.W.; Dandekar, T.; Muckenthaler, M., (2010), "The IronChip evaluation package: a package of perl modules for robust analysis of custom microarrays", BMC bioinformatics, vol.11, pp. 112, ISSN: 1471-2105.
- Ramsay, A.J.; Quesada, V.; Sánchez, M.; Garabaya, C.; Sardà, M.P.; Baiget M; Remacha, A.; Velasco, G.; López-Otín C., (2009), "Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.", Human molecular genetics, vol.18, No.19, pp. 3673-3683, ISSN: 0964-6906.
Capítols de llibre
- Anguita, E.; Sánchez, M., (02/10/2017), "Capítulo Anemias Sideroblásticas Congénitas.", Guía de Recomendaciones para el Diagnóstico Genético y Seguimiento de Neoplasias Hematológicas.
- Sánchez, M.; Blas-López, C., (02/10/2017), "Capítulo Hemocromatosis", Guía de recomendaciones para el diagnóstico genético y seguimiento de neoplasias.
- Sánchez, M.; Altés, A., (11/09/2017), "Capítulo 30 Hemocromatosis Hereditaria", Eritropatología, pp. 569-582. ISBN: 978-84-945945-4-0.
- Sánchez, M., (11/09/2017), "Capítulo 8 Anemias sideroblásticas congénitas.", Eritropatología. ISBN: 978-84-945945-4-0.
Proyectos de investigación
Nuevas aproximaciones para el diagnóstico y tratamiento de la anemia diseritropoyética congénita: Secuenciación masiva y terapia génica
IP: Sánchez, M.
MINISTERIO DE CIENCIA E INNOVACION
01/01/2020 - 31/12/2023
Mejoras en el diagnóstico y desarrollo de herramientas moleculares para terapia génica en Anemia diseritropoyética congénita (ADC)
IP: Sánchez, M.; Tornador, C.
CDTI; Ministerio de Ciencia e Innovación (MICINN)
01/01/2020 - 31/12/2021
Advances in new molecular pathways and novel diseases in iron homeostasis (A-IRON)
IP: Sánchez, M.
Ministerio de Ciencia, Innovación y Universidades
01/01/2019 - 31/12/2021
Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias
IP: Sánchez, M.
Fundación Ramón Areces
02/03/2017 - 01/03/2020
Uncovering new molecular and pathophysiological networks in iron metabolism.
IP: Sánchez, M.
MINE - MINECO. Ministerio de Economía y Competitividad
01/01/2016 - 31/12/2018
Myelodisplastic syndromes: cause of mitochondrial iron overload in sideroblastic anemia.
IP: Sánchez, M.
Deutsche Josep Carreras Leukämie-Stiftung
01/01/2015 - 31/12/2017
Advances in the Diagnosis and Gene Therapy of Congenital dyserythropoietic Anemia
IP: Sánchez, M.
European Union
14/09/2020
Actividades
Annual Congress of the European Hematology Association
Presentació de poster "Poster Presentation EP1585: A mutation in the SLC11A2 gene reveals the eighth case of severe hypochromic microcytic anemia.", 2020.
Annual Congress of the European Hematology Association
Presentació de poster "Poster Presentation EP1583: A mutation in the Iron.Responsive element of ALAS2 is a modifier of severity in erythropoietic protoporphyria.", 2020.
EHA-SWG Scientific Meeting on Red Cell and Iron Metabolism: from basic science to clinical case application.
Ponència "Selected talk: Atransferrinemia cases: an ulta-rare microcytic anaemia with iron overload.", 2019.
BIOIRON organizing scientific committee
Vocal, 2019.
Congress of the International BIOIRON Society
Presentació de poster "Poster Presentation n166: L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases. F Celma, B Cadenas, J Fita-Torró, M Bermúdez-Cortés, I Hernandez-Rodriguez, JL Fuster, ME Llinares, AM Galera, J Lee Romero, S Pérez-Montero, C Tornador and M Sanchez.", 2019.
Congress of the International BIOIRON Society
Presentació de poster "Poster Presentation n357: CoDysAn: A telemedicine tool to improve awareness and diagnosis for patients with Congenital Dyserythropoietic Anemia. Venturi V, Sánchez-Prados E, Cadenas Sevilla B, Russo R, Andolfo I, Hernández-Rodriguez I, Tornador C, Iolascon A, Sánchez,", 2019.
Jornada de Bioinformàtica i Genòmica
Presentació de poster "Poster 5: BEA: a web tool for BioMark gene expression analysis.", 2018.
Annual Congress of the European Hematology Association
Presentació de poster "Genetic studies reveal new mutations in the CP gene in aceruloplasminemia patients", 2018.
Congreso Nacional de la Sociedad Española de Hematología y Hemoterapia
Ponència "Oral presentation CO-145: Mutación en el gen SLC11A2 revela el octavo caso de Anemia severa microcítica hipocrómica", 2018.
