Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects.

by Ainhoa Martínez-Pizarro, Lourdes R Desviat, Magdalena Ugarte, Belén Pérez, Eva Richard
Published 2016-01-01

A Sensitive Assay System To Test Antisense Oligonucleotides for Splice Suppression Therapy in the Mouse Liver

by Lorena Gallego-Villar, Hiu Man Viecelli, Belén Pérez, Cary O Harding, Magdalena Ugarte, Beat Thöny, Lourdes R Desviat
Published 2014-01-01

Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene

by Esmeralda Alonso-Barroso, Sandra Brasil, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R. Desviat, Eva Richard
Published 2017-08-01

Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man.

by Ana Rivera-Barahona, Rocío Sánchez-Alcudia, Hiu Man Viecelli, Veronique Rüfenacht, Belén Pérez, Magdalena Ugarte, Johannes Häberle, Beat Thöny, Lourdes Ruiz Desviat
Published 2015-01-01

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.

by Ana Rivera-Barahona, Rocío Sánchez-Alcudia, Hiu Man Viecelli, Veronique Rüfenacht, Belén Pérez, Magdalena Ugarte, Johannes Häberle, Beat Thöny, Lourdes Ruiz Desviat
Published 2015-01-01

Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient

by Laura Arribas-Carreira, Margarita Castro, Fernando García, Rosa Navarrete, Irene Bravo-Alonso, Francisco Zafra, Magdalena Ugarte, Eva Richard, Belén Pérez, Pilar Rodríguez-Pombo
Published 2024-02-01

Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia

by Ana Rivera-Barahona, Alejandro Fulgencio-Covián, Celia Pérez-Cerdá, Ricardo Ramos, Michael A. Barry, Magdalena Ugarte, Belén Pérez, Eva Richard, Lourdes R Desviat
Published 2017-07-01

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

by Patricia Yuste-Checa, Ana I Vega, Cristina Martín-Higueras, Celia Medrano, Alejandra Gámez, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez
Published 2017-01-01

Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology

by Alejandro Fulgencio-Covián, Mar Álvarez, Barry A. Pepers, Arístides López-Márquez, Magdalena Ugarte, Belén Pérez, Willeke M.C. van Roon-Mom, Lourdes R. Desviat, Eva Richard
Published 2020-12-01

Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene

by Laura Arribas-Carreira, Irene Bravo-Alonso, Arístides López-Márquez, Esmeralda Alonso-Barroso, Álvaro Briso-Montiano, Ignacio Arroyo, Magdalena Ugarte, Belén Pérez, Celia Pérez-Cerdá, Pilar Rodríguez-Pombo, Eva Richard
Published 2019-08-01

Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene

by Arístides López-Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, Irene Bravo-Alonso, Laura Arribas-Carreira, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R. Desviat, Eva Richard
Published 2019-07-01

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases

by Patricia Alcaide, Isaac Ferrer-López, Leticia Gutierrez, Fatima Leal, Elena Martín-Hernández, Pilar Quijada-Fraile, Marcello Bellusci, Ana Moráis, Consuelo Pedrón-Giner, Dolores Rausell, Patricia Correcher, María Unceta, Sinziana Stanescu, Magdalena Ugarte, Pedro Ruiz-Sala, Belén Pérez
Published 2022-05-01

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

by Alejandro Soriano-Sexto, Diana Gallego, Fátima Leal, Natalia Castejón-Fernández, Rosa Navarrete, Patricia Alcaide, María L. Couce, Elena Martín-Hernández, Pilar Quijada-Fraile, Luis Peña-Quintana, Raquel Yahyaoui, Patricia Correcher, Magdalena Ugarte, Pilar Rodríguez-Pombo, Belén Pérez
Published 2022-10-01

Isolated and Combined Remethylation Disorders

by Eva Richard PhD, Sandra Brasil PhD, Fátima Leal, Rosa Navarrete, Ana Vega PhD, María Jesús Ecay, Lourdes R. Desviat PhD, Celia Pérez-Cerda PhD, Magdalena Ugarte PhD, Begoña Merinero PhD, Belén Pérez PhD
Published 2017-01-01

Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment

by Irene Bravo-Alonso, Rosa Navarrete, Ana Isabel Vega, Pedro Ruíz-Sala, María Teresa García Silva, Elena Martín-Hernández, Pilar Quijada-Fraile, Amaya Belanger-Quintana, Sinziana Stanescu, María Bueno, Isidro Vitoria, Laura Toledo, María Luz Couce, Inmaculada García-Jiménez, Ricardo Ramos-Ruiz, Miguel Ángel Martín, Lourdes R. Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Begoña Merinero, Belén Pérez, Pilar Rodríguez-Pombo
Published 2019-11-01

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

by Álvaro Martín‐Rivada, Laura Palomino Pérez, Pedro Ruiz‐Sala, Rosa Navarrete, Ana Cambra Conejero, Pilar Quijada Fraile, Ana Moráis López, Amaya Belanger‐Quintana, Elena Martín‐Hernández, Marcello Bellusci, Elvira Cañedo Villaroya, Silvia Chumillas Calzada, María Teresa García Silva, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez‐Pardo Casanova, Miguel L. F. Ruano, Magdalena Ugarte, Belén Pérez, Consuelo Pedrón‐Giner
Published 2022-03-01

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

by Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez
Published 2018-07-01