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Journal Articles

Treatment of Congenital Hypotransferrinemia Patients with Human Apotransferrin Resolves Anemia and Reduces Iron Accumulation

Ilona Kleine Budde, Cristina Díaz De Heredia, Raffaella Mariani, Alberto Piperno, Katja Moser, Mayka Sanchez, Thomas Bodewes, Maya Isaila
Journal: Blood
Blood (2023) 142 (Supplement 1): 922.
https://doi.org/10.1182/blood-2023-174830
Published: 2023
Journal Articles

Lentiviral Gene Therapy for the Correction of Congenital Dyserythropoietic Anemia Type II

Mercedes Dessy-Rodriguez, Sara Fañanas-Baquero, Veronica Venturi, Salvador Payan, Cristian Tornador, Gonzalo Hernández, Paola Bianchi, Mayka Sanchez, Juan Carlos Ramirez, José C Segovia, Oscar Quintana Bustamante
Journal: Blood
Blood (2021) 138 (Supplement 1): 1994.
https://doi.org/10.1182/blood-2021-152332
Published: 2021
Journal Articles

Autosomal Recessive Congenital Dyserythropoietic Anemia Type III Is Caused By Mutations in the Centralspindlin RACGAP1 Component

Lídia Romero-Cortadellas, Gonzalo Hernández, Xènia Ferrer-Cortès, Veronica Venturi, Mireia Olivella, Concepción Pérez de Soto, Rosario M. Morales-Camacho, Ana Villegas, F. Ataulfo Gonzalez-Fernandez, Marta Morado, Santiago Pérez-Montero, Cristian Tornador, Mayka Sánchez
Journal: Blood
Blood (2021) 138 (Supplement 1): 847.
https://doi.org/10.1182/blood-2021-150097
Published: 2021
Journal Articles

Modelling Congenital Dyserythropoietic Anemia Type II through Gene Editing in Hematopoietic Stem and Progenitor Cells

Mercedes Dessy-Rodriguez, Sara Fañanas-Baquero, Veronica Venturi, Salvador Payán-Pernía, Cristian Tornador, Gonzalo Hernandez, Mayka Sanchez, José C Segovia, PhD, Oscar Quintana Bustamante, PhD
Journal: Blood
Blood (2020) 136 (Supplement 1): 27.
https://doi.org/10.1182/blood-2020-139207
Published: 2020
Journal Articles

Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

Noemi Roy, MBBCH, MD, Melanie Proven, PhD, Irene Roberts, MD, Hannah Tamary, MD, Dorine W. Swinkels, MD PhD, Aguilar-Martinez Patricia, MD PhD, Paola Bianchi, BSc, PhD, Raffaella Colombatti, MD PhD, Roberta Russo, Barnaby Clark, Mayka Sanchez, MD, Rafael Andres DEL Orbe Barreto, Elisa Fermo, PhD, Vip Viprakasit, MD DPhil, Jiraporn Korchuenjit, BSc, Tabita Magalhães Maia, MD, Frances Smith, BSc, Maria del Mar Manu, BSc, PhD, Lydie Da Costa, Antonio Marzollo, Anabelen Hozdelarastrollo, Beatriz Arrizabalaga, MD PhD, Delasalle Barbara, Achille Iolascon, MD PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 4936.
https://doi.org/10.1182/blood-2018-99-111609
Published: 2018
Journal Articles

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

Sara Luscieti, Bruno Galy, Lucia Gutierrez, Michael Reinke, Jorge Couso, Maya Shvartsman, Antonio Di Pascale, Walter Witke, Matthias W. Hentze, Pietro Pilo Boyl, Mayka Sanchez
Journal: Blood
Blood (2017) 130 (17): 1934–1945.
https://doi.org/10.1182/blood-2016-11-754382
Published: 2017
Includes: Supplemental data
Journal Articles

Profilin2 Is Controlled By the Iron Regulatory Proteins and Modulates Iron Homeostasis

Sara Luscieti, Pietro Pilo Boyl, PhD, Bruno Galy, PhD, Lucia Gutierrez, PhD, Maya Shvartsman, PhD, M. Puertos Morales, PhD, Matthias W. Hentze, MD, Walter Witke, Prof, Mayka Sanchez, PhD
Journal: Blood
Blood (2014) 124 (21): 749.
https://doi.org/10.1182/blood.V124.21.749.749
Published: 2014
Journal Articles

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

e-blood
Mayka Sanchez, Bruno Galy, Bjoern Schwanhaeusser, Jonathon Blake, Tomi Bähr-Ivacevic, Vladimir Benes, Matthias Selbach, Martina U. Muckenthaler, Matthias W. Hentze
Journal: Blood
Blood (2011) 118 (22): e168–e179.
https://doi.org/10.1182/blood-2011-04-343541
Published: 2011
Includes: Supplemental data
Journal Articles

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

Melanie J. Percy, Mayka Sanchez, Sabina Swierczek, Mary Frances McMullin, Mariluz P. Mojica-Henshaw, Martina U. Muckenthaler, Josef T. Prchal, Matthias W. Hentze
Journal: Blood
Blood (2007) 110 (7): 2776–2777.
https://doi.org/10.1182/blood-2007-03-082503
Published: 2007