Restored glyoxylate metabolism after AGXT gene correction and direct reprogramming of primary hyperoxaluria type 1 fibroblasts

Authors: Virginia Nieto-Romero, Aida García-Torralba, Andrea Molinos-Vicente, Francisco José Moya, Sandra Rodríguez-Perales, Ramón García-Escudero, Eduardo Salido, José-Carlos Segovia, María García-Bravo

Source: iScience, Vol 27, Iss 4, Pp 109530- (2024)

Subject Terms: Biological sciences, Cell biology, Molecular genetics, Science

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589004224007521; https://doaj.org/toc/2589-0042

Access URL: https://doaj.org/article/411c37ce7ba4439a93a3142a4e678f12

Flow Cytometry as a New Accessible Method to Evaluate Diagnostic Osmotic Changes in Patients with Red Blood Cell Membrane Defects

Authors: Asunción Beltrán, María Sánchez-Villalobos, Eduardo Salido, Carmen Algueró, Eulalia Campos, Ana Belén Pérez-Oliva, Miguel Blanquer, José M. Moraleda

Source: Biomedicines, Vol 12, Iss 7, p 1607 (2024)

Subject Terms: congenital hemolytic anemia, red blood cell membrane, hereditary spherocytosis, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9059/12/7/1607; https://doaj.org/toc/2227-9059

Access URL: https://doaj.org/article/02a23b33cbf84477aff34ea6ccf1c1d3

Atypical spindle cell lipomatous tumour presenting as a large retroperitoneal mass – a case report and review of the literature

Authors: Martyna Krupinska, Carmen León, Rocío López Henríquez, Beatriz Esquivel Vázquez, Rosa Nieves Rodríguez Rodríguez, Patricia Marrero Marrero, Luciano Delgado Plasencia, Eduardo Salido

Source: Polish Journal of Pathology, Vol 73, Iss 4, Pp 364-370 (2023)

Subject Terms: lipomatous, spindle cell, neoplasm, retroperitoneal, rb1 deletion., Medicine

File Description: electronic resource

Relation: https://www.termedia.pl/Atypical-spindle-cell-lipomatous-tumour-presenting-as-a-large-retroperitoneal-mass-a-case-report-and-review-of-the-literature,55,50270,1,1.html; https://doaj.org/toc/1233-9687; https://doaj.org/toc/2084-9869

Access URL: https://doaj.org/article/c96bf6b0199340f2a3bf3f98091c11cb

Treatment of early borderline lesions in low immunological risk kidney transplant patients: a Spanish multicenter, randomized, controlled parallel-group study protocol: the TRAINING study

Authors: Domingo Hernández, Teresa Vázquez-Sánchez, Eugenia Sola, Veronica Lopez, Pedro Ruiz-Esteban, Abelardo Caballero, Eduardo Salido, Myriam Leon, Aurelio Rodriguez, Nuria Serra, Consuelo Rodriguez, Carme Facundo, Manel Perello, Irene Silva, Domingo Marrero-Miranda, Ignacio Cidraque, Francesc Moreso, Luis Guirado, Daniel Serón, Armando Torres

Source: BMC Nephrology, Vol 23, Iss 1, Pp 1-10 (2022)

Subject Terms: kidney transplant, borderline lesions, α-klotho, low immunological risk, subclinical inflammation, Diseases of the genitourinary system. Urology, RC870-923

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2369

Access URL: https://doaj.org/article/f3dd443430a94f4380cfa6f11e3346e2

Case Report: α-Spectrin Mutation Associated with αLELY Polymorphism Responsible for Hereditary Pyropoikilocytosis

Authors: María Sánchez Villalobos, Eduardo Salido Fiérrez, Jorge Martínez Nieto, Mª Carmen García Garay, Asunción Beltrán Videla, Ana Belen Pérez Oliva, Miguel Blanquer Blanquer, José María Moraleda Jiménez

Source: Hematology Reports, Vol 14, Iss 4, Pp 300-304 (2022)

Subject Terms: congenital hemolytic anemia, red blood cell membrane, pyropoikilocytosis, Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://www.mdpi.com/2038-8330/14/4/43; https://doaj.org/toc/2038-8330

Access URL: https://doaj.org/article/0a1b763d9cd44a2f82caace5345ab164

P1480: CLINICAL AND GENETIC STUDY OF HEREDITARY SPHEROCYTOSIS IN THE SPANISH POPULATION.

Authors: Lucia Castilla, Jose Aspa, Jorge Martínez Nieto, Ángel Zúñiga Cabrera, Marta Santiago, Ana Garcia Feria, Josefa Esperanza Marco Buades, María Argüello Marina, Rosa María Ayala Diaz, Ricardo Sanchez, Rafael Del Orbe Barreto, Ana Lobo Olmedo, Julio Dávila-Valls, Sonia Martín-Pérez, Cristina Jativa Saez, Inés Hernández Rodriguez, Eduardo Salido, Valle Recasens, Lucía Guerrero Fernández, Maria Belén Moreno Risco, Ataulfo González Fernández, Montserrat Lopez Rubio

Source: HemaSphere, Vol 7, p e6313050 (2023)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: http://journals.lww.com/10.1097/01.HS9.0000972804.63130.50; https://doaj.org/toc/2572-9241

Access URL: https://doaj.org/article/eda95f35d3a94157acf2603bc7cba2c6

In vivo CRISPR-Cas9 inhibition of hepatic LDH as treatment of primary hyperoxaluria

Authors: Rebeca Martinez-Turrillas, Angel Martin-Mallo, Saray Rodriguez-Diaz, Natalia Zapata-Linares, Paula Rodriguez-Marquez, Patxi San Martin-Uriz, Amaia Vilas-Zornoza, María E. Calleja-Cervantes, Eduardo Salido, Felipe Prosper, Juan R. Rodriguez-Madoz

Source: Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 137-146 (2022)

Subject Terms: primary hyperoxaluria, CRISPR-Cas9, in vivo genome editing, LDH inhibition, oxaluria, Genetics, QH426-470, Cytology, QH573-671

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050122000365; https://doaj.org/toc/2329-0501

Access URL: https://doaj.org/article/bd677a9b29c243f29edb333113c24eef

A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain)

Authors: María Sánchez-Villalobos, Eulalia Campos Baños, María Jesús Juan Fita, José María Egea Mellado, Inmaculada Gonzalez Gallego, Asunción Beltrán Videla, Mercedes Berenguer Piqueras, Mar Bermúdez Cortés, José María Moraleda Jiménez, Encarna Guillen Navarro, Eduardo Salido Fierrez, Ana B. Pérez-Oliva

Source: International Journal of Neonatal Screening, Vol 9, Iss 4, p 55 (2023)

Subject Terms: sickle cell disease, vaso-occlusive crises, structural hemoglobinopathies, newborn screening, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2409-515X/9/4/55; https://doaj.org/toc/2409-515X

Access URL: https://doaj.org/article/9546bdae6acb46e69273e85dad40b1a2

Effect of naturally-occurring mutations on the stability and function of cancer-associated NQO1: Comparison of experiments and computation

Authors: Juan Luis Pacheco-Garcia, Matteo Cagiada, Kelly Tienne-Matos, Eduardo Salido, Kresten Lindorff-Larsen, Angel L. Pey

Source: Frontiers in Molecular Biosciences, Vol 9 (2022)

Subject Terms: protein function, protein stability, genotype-phenotype correlations, computational prediction, sequence conservation, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2022.1063620/full; https://doaj.org/toc/2296-889X

Access URL: https://doaj.org/article/ac7e3935ec344ca1bc48f1470a5bf2f1

Structural basis of the pleiotropic and specific phenotypic consequences of missense mutations in the multifunctional NAD(P)H:quinone oxidoreductase 1 and their pharmacological rescue

Authors: Juan Luis Pacheco-Garcia, Ernesto Anoz-Carbonell, Pavla Vankova, Adithi Kannan, Rogelio Palomino-Morales, Noel Mesa-Torres, Eduardo Salido, Petr Man, Milagros Medina, Athi N. Naganathan, Angel L. Pey

Source: Redox Biology, Vol 46, Iss , Pp 102112- (2021)

Subject Terms: Flavoprotein, Multifunctional protein, Ligand binding, Disease-causing mutation, Post-translational modification, NQO1, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213231721002718; https://doaj.org/toc/2213-2317

Access URL: https://doaj.org/article/d49adeee3e97449fb1fdc18c33294f37

Phosphorylation of Thr9 Affects the Folding Landscape of the N-Terminal Segment of Human AGT Enhancing Protein Aggregation of Disease-Causing Mutants

Authors: Jose L. Neira, Athi N. Naganathan, Noel Mesa-Torres, Eduardo Salido, Angel L. Pey

Source: Molecules, Vol 27, Iss 24, p 8762 (2022)

Subject Terms: conformational landscape, spectroscopy, circular dichroism, NMR, phosphorylation, mutation, Organic chemistry, QD241-441

File Description: electronic resource

Relation: https://www.mdpi.com/1420-3049/27/24/8762; https://doaj.org/toc/1420-3049

Access URL: https://doaj.org/article/70acc055b13a40a58a70307115ca250f

Epigenomic and transcriptional profiling identifies impaired glyoxylate detoxification in NAFLD as a risk factor for hyperoxaluria

Authors: Kathrin Gianmoena, Nina Gasparoni, Adelina Jashari, Philipp Gabrys, Katharina Grgas, Ahmed Ghallab, Karl Nordström, Gilles Gasparoni, Jörg Reinders, Karolina Edlund, Patricio Godoy, Alexander Schriewer, Heiko Hayen, Christian A. Hudert, Georg Damm, Daniel Seehofer, Thomas S. Weiss, Peter Boor, Hans-Joachim Anders, Manga Motrapu, Peter Jansen, Tobias S. Schiergens, Maren Falk-Paulsen, Philip Rosenstiel, Clivia Lisowski, Eduardo Salido, Rosemarie Marchan, Jörn Walter, Jan G. Hengstler, Cristina Cadenas

Source: Cell Reports, Vol 36, Iss 8, Pp 109526- (2021)

Subject Terms: AGXT, HAO1, LDHA, oxalate, glycolate, glyoxylate, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124721009578; https://doaj.org/toc/2211-1247

Access URL: https://doaj.org/article/8d9cdcdc3d35492a92af90d5a6d5d7cb

Oral Treatment With an Engineered Uricase, ALLN-346, Reduces Hyperuricemia, and Uricosuria in Urate Oxidase-Deficient Mice

Authors: Kateryna Pierzynowska, Aditi Deshpande, Nadiia Mosiichuk, Robert Terkeltaub, Paulina Szczurek, Eduardo Salido, Stefan Pierzynowski, Danica Grujic

Source: Frontiers in Medicine, Vol 7 (2020)

Subject Terms: gout, CKD, urolithiasis, urate-lowering therapy, ABCG2, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2020.569215/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/9f8495c1e24340959fc411e6e3c356dc

The Value of Mouse Models of Rare Diseases: A Spanish Experience

Authors: Silvia Murillo-Cuesta, Rafael Artuch, Fernando Asensio, Pedro de la Villa, Mara Dierssen, Jose Antonio Enríquez, Cristina Fillat, Stéphane Fourcade, Borja Ibáñez, Lluis Montoliu, Eduardo Oliver, Aurora Pujol, Eduardo Salido, Mario Vallejo, Isabel Varela-Nieto

Source: Frontiers in Genetics, Vol 11 (2020)

Subject Terms: orphan diseases, animal models, preclinical research, novel therapies, ethics, transparency, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.583932/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/428bc5c42dc84d1ea2cf9b8a26ecb5e0

Prevalence and genotype distribution of cervical human papilomavirus infection in the pre-vaccination era: a population-based study in the Canary Islands

Authors: Silvia De Sanjosé, Vanesa Garcia, Octavio Arencibia, Virginia Benito, Amina Lubrano, Miguel Andujar, Esther Roura, Alejandra Torres, Begoña Vega, Marta Pavcovich, Miguel Angel Sanchez, Jose Luis Trujillo, Lucia Almeida, Milagros Santana, Rosaura Hurtado, Norberto Medina, Sonia Carballo, Maria del Carmen Camacho, Arancha Ruiz del Pozo, Alfoso Quesada, Eduardo Salido, Laia Bruni, Diana Alemán, Mónica Almeida, Ana María Arencibia, María Isabel Armas, Guillermina Batista, Victoria Bernal, Francisca Bernaldo de Quirós, Sili Bolaños, Dolores Casaña, Luisa Celedón, Isabel Cruz, Elisa Díaz, Inocencia Duarte, Felisa Expósito, Carmelo Felipe, Carlos Galván, María José García, María Isabel García, Virginia García, Elena Giménez, Teresa Godoy, Catalina Gómez, Lucia González, Luisa Gutiérrez, Mónica Hernández, Delia Herrera, Laura Herrera, Rosario Laseca, Carmen Marrero, Ofelia Marrero, Noa Mateos, Olivia Medina, Josefa Mendoza, Lucia Montesdeoca, Rosa Monzón, Cristina Morales, Mercedes Morales, M Dolores Navarro, María Ángeles Nieto, Noelia Pérez, Yurena Pérez, Antonio Ramos, Antonio Rico, Margarita Roldán, Esther Salamanca, Rosario Sánchez, Raquel Santana, Elvira Santos, Antonia Solanes, Elisabeth Soutto, Dulce Suarez, María Jesús Suárez, María Ángeles Tadeo, Virgen Valdés, Gabriela Valido, Iralla Vega, Maria del Pino Vega, María Angeles Afonso, Elisa Baena, María Pilar Baz, José de Armas, Alicia de la Puerta, Josefina García, María Asuncion González, Célida González, María Teresa Hernández, Josefa Limiñana, Carmen Rosa León, Fernando Marín, Emma Manrique, José Roberto Negrín, Rosa Olavarrieta, Verónica Perera, Concepción Sabater, Candelaria Sosvilla

Source: BMJ Open, Vol 10, Iss 9 (2020)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://bmjopen.bmj.com/content/10/9/e037402.full; https://doaj.org/toc/2044-6055

Access URL: https://doaj.org/article/cacdfcfaded843289d84c931586d4749

Allosteric Communication in the Multifunctional and Redox NQO1 Protein Studied by Cavity-Making Mutations

Authors: Juan Luis Pacheco-Garcia, Dmitry S. Loginov, Ernesto Anoz-Carbonell, Pavla Vankova, Rogelio Palomino-Morales, Eduardo Salido, Petr Man, Milagros Medina, Athi N. Naganathan, Angel L. Pey

Source: Antioxidants, Vol 11, Iss 6, p 1110 (2022)

Subject Terms: antioxidant defense, flavoprotein, FAD binding, structural perturbation, protein core, allosterism, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://www.mdpi.com/2076-3921/11/6/1110; https://doaj.org/toc/2076-3921

Access URL: https://doaj.org/article/b95e67435a8a43c0af026892a8aef1b0

CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I

Authors: Nerea Zabaleta, Miren Barberia, Cristina Martin-Higueras, Natalia Zapata-Linares, Isabel Betancor, Saray Rodriguez, Rebeca Martinez-Turrillas, Laura Torella, Africa Vales, Cristina Olagüe, Amaia Vilas-Zornoza, Laura Castro-Labrador, David Lara-Astiaso, Felipe Prosper, Eduardo Salido, Gloria Gonzalez-Aseguinolaza, Juan R. Rodriguez-Madoz

Source: Nature Communications, Vol 9, Iss 1, Pp 1-9 (2018)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/4b179c1567b1437ea464d69ab6bf5455

Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.

Authors: Rebeca Martinez-Turrillas, Saray Rodriguez-Diaz, Paula Rodriguez-Marquez, Angel Martin-Mallo, Eduardo Salido, Bodo B. Beck, Felipe Prosper, Juan R. Rodriguez-Madoz

Source: Stem Cell Research, Vol 41, Iss , Pp - (2019)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506119302569; https://doaj.org/toc/1873-5061

Access URL: https://doaj.org/article/f6ccc601669a415a8ab9edfb7627a06f

Cambios en la homeostasis de la glucosa y la proliferación de la célula beta pancreática tras el cambio a ciclosporina en la diabetes inducida por tacrolimus

Authors: Ana Elena Rodríguez-Rodríguez, Javier Triñanes, Esteban Porrini, Silvia Velázquez-García, Cecilia Fumero, María Jose Vega-Prieto, María Luisa Díez-Fuentes, Sergio Luis Lima, Eduardo Salido, Armando Torres

Source: Nefrología, Vol 35, Iss 3, Pp 264-272 (2015)

Subject Terms: Diabetes postrasplante, Tacrolimus, Ciclosporina-A, Diseases of the genitourinary system. Urology, RC870-923

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0211699515000120; https://doaj.org/toc/0211-6995

Access URL: https://doaj.org/article/89ea61efaa7241378d09c24e4c6ef531

Glucose homeostasis changes and pancreatic β-cell proliferation after switching to cyclosporin in tacrolimus-induced diabetes mellitus

Authors: Ana Elena Rodríguez-Rodríguez, Javier Triñanes, Esteban Porrini, Silvia Velázquez-García, Cecilia Fumero, María Jose Vega-Prieto, María Luisa Díez-Fuentes, Sergio Luis Lima, Eduardo Salido, Armando Torres

Source: Nefrología (English Edition), Vol 35, Iss 3, Pp 264-272 (2015)

Subject Terms: Post-transplant diabetes mellitus, Tacrolimus, Cyclosporin A, Diseases of the genitourinary system. Urology, RC870-923

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2013251415000255; https://doaj.org/toc/2013-2514

Access URL: https://doaj.org/article/3930df58a4424d01afe0ed9e139ced95