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Author profile at the institutional portal

Richard Rodriguez, Eva Maria eva.richard@uam.es

Biología molecular / Universidad Autónoma de Madrid

Publications

Human propionyl-CoA carboxylase beta subunit gene: Exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients

  • Rodriguez-Pombo, P
  • Hoenicka, J
  • Muro, S
  • Perez, B
  • Perez-Cerda, C
  • Richard, E
  • Desviat, LR
  • Ugarte, M;
... View more Collapse

American Journal Of Human Genetics (p. 360-369) - 1/1/1998

10.1086/301970 View at source

  • ISSN 00029297

Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts

  • Gallego-Villar L, Pérez B, Ugarte M, Desviat LR, Richard E

Biochemical And Biophysical Research Communications (p. 457-461) - 26/9/2014

10.1016/j.bbrc.2014.08.091 View at source

  • ISSN 0006291X

Congenital disorder of glycosylation Ia: New differentially expressedproteins identified by 2-DE

  • Richard E, Vega AI, Pérez B, Roche C, Velázquez R, Ugarte M, Pérez-Cerdá C

Biochemical And Biophysical Research Communications (p. 267-271) - 6/2/2009

10.1016/j.bbrc.2008.12.036 View at source

  • ISSN 0006291X

Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemia

  • Fulgencio-Covián A
  • Tamayo M
  • Navarro-García JA
  • Val-Blasco A
  • Ruiz-Hurtado G
  • Martín Nuñez L
  • Delgado C
  • Fernández-Velasco M
  • Desviat LR
  • Richard E
... View more Collapse

Biochimica Et Biophysica Acta-Molecular Basis Of Disease - 1/1/2020

10.1016/j.bbadis.2019.165586 View at source

  • ISSN 09254439

Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type

  • Jorge-Finnigan A, Gámez A, Pérez B, Ugarte M, Richard E

Biochimica Et Biophysica Acta. Molecular Basis Of Disease (p. 959-967) - 1/11/2010

10.1016/j.bbadis.2010.08.002 View at source

  • ISSN 09254439

Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of

  • Briso-Montiano, A.
  • Vilas, A.
  • Richard, E.
  • Ruiz-Sala, P.
  • Morato, E.
  • Desviat, L. R.
  • Ugarte, M.
  • Rodriguez-Pombo, P.
  • Perez, B.;
... View more Collapse

Biochimica Et Biophysica Acta. Molecular Basis Of Disease - 1/9/2022

10.1016/j.bbadis.2022.166433 View at source

  • ISSN 09254439

Genetic heterogeneity in propionic acidemia patients with ¿-subunit defects. Identification of five novel mutations, one of them causing instability of the protein

  • Richard E, Desviat LR, Pérez B, Pérez-Cerdá C, Ugarte M

Biochimica Et Biophysica Acta. Molecular Basis Of Disease (p. 351-358) - 30/3/1999

10.1016/s0925-4439(99)00008-3 View at source

  • ISSN 09254439

Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies

  • Brasil S, Richard E, Jorge-Finnigan A, Leal F, Merinero B, Banerjee R, Desviat LR, Ugarte M, Pérez B

Clinical Genetics (p. 576-581) - 1/6/2015

10.1111/cge.12426 View at source

  • ISSN 00099163

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

  • J Luque
  • I Mendes
  • B Gómez
  • B Morte
  • M Lopez de Heredia
  • E Herreras

Clinical Genetics - 1/1/2022

  • ISSN 00099163
  • iMarina

Proteomics as Applied to Inherited Metabolic Diseases

  • Richard, Eva
  • Gamez, Alejandra
  • Ruiz-Sala, Pedro
  • Perez, Belen
  • Desviat, Lourdes R.
  • Ugarte, Magdalena;

Current Proteomics (p. 140-153) - 1/10/2009

10.2174/157016409789351897 View at source

  • ISSN 15701646

This researcher has no books.

Mitochondrial organic acidurias. Part II: Mitochondrial dysfunction

  • Richard, Eva
  • Rodríguez Pombo, Pilar
  • Ruiz Desviat, Lourdes
  • Pérez González, María Belén
  • Merinero, B
  • Pérez-Cerdá, Celia
  • Ugarte Pérez, Magdalena
... View more Collapse

Mitochondrial Pathophysiology (p. 173,191-191) - 1/1/2011

  • iMarina

Gene expression profiling of oxidative stress and apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type

  • Gamez Abascal, Maria Alejandra

Libro De Abstracts Del Congreso - 1/1/2010

  • iMarina

Caracterización de un nuevo modelo de ratón PKU humanizado portador de la variante de splicing c.1066-11G>A

  • Ainhoa Martínez-Pizarro
  • Sara Picó
  • Elena Montalvo
  • Margarita Castro
  • Belén Pérez
  • José J Lucas
  • Eva Richard
  • Lourdes R Desviat
... View more Collapse

1/1/2022

  • iMarina

Modeling cardiac disease mechanisms using induced pluripotent stem cell-derived cardiomyocytes in propionic acidemia

  • Mar Álvare
  • Sara Marcos Herraiz
  • Belén Pérez
  • Lourdes R Desviat
  • Eva Richard

1/1/2021

  • iMarina

Characterization of iPSC-derived human astrocytes in propionic acidemia disease

  • Mar Álvarez
  • Karla Chavarri
  • Laura Arribas-Carreira
  • Francisco Zafra
  • Belén Pérez
  • Pilar Rodríguez-Pombo
  • Lourdes R Desviat
  • Eva Richard
... View more Collapse

1/1/2022

  • iMarina

From iPSCs to astrocytes: Modelling two neurometabolic disorders

  • Laura Arribas Carreira
  • Mar Álvarez
  • Karla Chavarri
  • Margarita Castro
  • Paloma Sanz
  • Fernando García
  • Francisco Zafra
  • Belén Pérez
  • Lourdes R Desviat
  • Eva Richard
  • Pilar Rodríguez Pombo
... View more Collapse

1/1/2022

  • iMarina

Generation and characterization of iPSC-derived hepatocyte-like cells as a preclinical model for therapy testing

  • Alicia Vilas
  • Álvaro Brso-Montiano
  • Pedro Ruiz Sala
  • Esperanza Morato
  • Lourdes R Desviat
  • Magdalena Ugarte
  • Pilar Rodríguez Pombo
  • Eva Richard
  • Belén Pérez
... View more Collapse

1/1/2022

  • iMarina

Characterization of a humanized PKU mouse carrying the frequent splicing variant c.1066-11G>A

  • Ainhoa Martínez-Pizarro
  • Sara Picó
  • Elena Montalvo
  • Margarita Castro
  • Belén Pérez
  • José J Lucas
  • Eva Richard
  • Lourdes R Desviat
... View more Collapse

1/1/2022

  • iMarina

Generation and characterization of iPS cells derived from fibroblasts of a Nonketotic Hyperglycinemia patient.

  • Laura Arribas-Carreira
  • Irene Bravo-Alonso
  • Esmeralda Alonso-Barroso
  • Arístides López-Márquez
  • Álvaro Briso-Montiano
  • Ignacio Arroyo
  • Celia Pérez-Cerdá
  • Magdalena Ugarte
  • Belén Pérez
  • Pilar Rodríguez-Pombo
  • Eva Richard
... View more Collapse

1/1/2019

  • iMarina

Establishment of inherited metabolic disease models for therapy development and evaluation of pharmacological chaperones: iPS-Hepatocyte and hepatic organoids generation.

  • Álvaro Briso-Montiano
  • Eva Richard
  • Lourdes R Desviat
  • Magdalena Ugarte
  • Belén Pérez

1/1/2019

  • iMarina

Renal phenotype in a hypomorphic murine model of propionic aciduria

  • Anke Schumann
  • Christoph Schell
  • Anna Laura Kossinger
  • Ainhoa Martinez
  • Eva Richard
  • Lourdes R Desviat
  • Luciana Hannibal
  • Ute Spiekerkötter
... View more Collapse

1/1/2023

  • iMarina

Adenosine deaminase deficiency with mosaicism for a second-site suppressor of a splicing mutation: Decline in revertant T lymphocytes during enzyme replacement therapy

  • Arredondo-Vega FX, Santisteban I, Richard E, Bali P, Koleilat M, Loubser M, Al-Ghonaium A, Al-Helali M, Hershfield MS

Blood (p. 1005-1013) - 1/2/2002

10.1182/blood.v99.3.1005 View at source

  • ISSN 00064971

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis

  • Ugarte Perez, Magdalena
  • Rodriguez Pombo, Pilar
  • Richard Rodriguez, Eva Maria
  • Perez-Cerda, C
  • Merinero, B
  • Marti, M
  • Cabrera, JC
  • Cabrera, J C
  • Pena, L
  • Garcia, MJ
  • Garcia, M J
  • Gangoiti, J
  • Sanz, P
  • Hoenicka, J
  • Muro, S
... View more Collapse

European Journal Of Pediatrics (p. 50-52) - 1/4/1998

10.1007/s004310050765

  • ISSN 03406199
  • iMarina

This researcher has no technical reports.

Cardiomyocytes derived from induced pluripotent stem cells as a new model for therapy development in propionic acidemia

  • Richard Rodriguez, Eva Maria (Investigador principal (IP))
  • Rivera Barahona, Ana (Investigador/a)
  • FULGENCIO COVIAN, ALEJANDRO (Investigador/a)
  • ALONSO BARROSO, ESMERALDA (Investigador/a)
  • MONTALVO DE LA PRIDA, ELENA (Investigador/a)
  • PEREZ CERDA, Celia (Investigador/a)
  • Ugarte Perez, Magdalena (Investigador/a)
  • Ruiz Desviat, Lourdes (Investigador/a)
... View more Collapse

Period: 14-02-2019 - 15-03-2020

  • iMarina

(Grupo CAMIT)

  • Cuezva Marcos, Jose Manuel (Investigador principal (IP))
  • Garesse Alarcon, Rafael (Investigador principal (IP))
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))
  • Sanchez Cenizo, Laura (Investigador/a)
  • Garcia Bermudez, Javier (Investigador/a)
  • Laura Formentini (Investigador/a)
  • Margarita Chamorro Bello (Investigador/a)
  • Willers, Imke María (Investigador/a)
  • Cristina Nuñez de Arenas Flores (Investigador/a)
  • Maria Sanchez Arago (Investigador/a)
  • Inmaculada Martinez Reyes (Investigador/a)
  • Fulvio Santacatterina (Investigador/a)
  • Paula Martinez Valero (Investigador/a)
  • Paloma Gonzalez Sanchez (Investigador/a)
  • Begoña Merinero Cortes (Investigador/a)
  • Celia Perez Cerda (Investigador/a)
  • Pedro Ruiz Sala (Investigador/a)
  • Ugarte Perez, Magdalena (Investigador/a)
  • Ruiz Desviat, Lourdes (Investigador/a)
  • Richard Rodriguez, Eva Maria (Investigador/a)
  • Sandra Dolores Arduim Brasil (Investigador/a)
  • Rodriguez Pombo, Pilar (Investigador/a)
  • Gallego Villar, Lorena (Investigador/a)
  • Alfonso Luis de Oyarzabal Sanz (Investigador/a)
  • Satrustegui Gil Delgado, Jorgina (Investigador principal (IP))
... View more Collapse

Period: 01-01-2012 - 31-12-2015

  • iMarina

Análisis genómico, transcriptómico, proteómico y funcional de la mitocondria y su incidencia en patología humana

  • Garesse Alarcon, Rafael (Investigador principal (IP))
  • Vinos Gomez de Balugera Javier (Investigador/a)
  • Cadenas Alvarez, Susana (Investigador/a)
  • Santiago Rodriguez de Córdoba (Investigador/a)
  • Marco Cuellar, Roberto (Investigador/a)
  • Miguel Angel Martin Casanueva (Investigador/a)
  • Fernandez Moreno, Miguel Angel (Investigador/a)
  • Maria del Mar Gonzalez Barroso (Investigador/a)
  • Cervera Jover, Margarita (Investigador/a)
  • Margarita Campos Gonzalez (Investigador/a)
  • Cuezva Marcos, Jose Manuel (Investigador/a)
  • Richard Rodriguez, Eva Maria (Investigador/a)
  • Belen Bornstein (Investigador/a)
  • Aranzazu Sanchez Muñoz (Investigador/a)
  • Satrustegui Gil Delgado, Jorgina (Coordinador/a)
... View more Collapse

Period: 01-01-2006 - 31-12-2010

  • iMarina

Acidemia propiónica: impacto en el epigenoma y el proteoma en relación con el fenotipo cardiaco y neurológico

  • Richard Rodriguez, Eva Maria (Investigador principal (IP))

Period: 01-01-2021 - 31-12-2024

  • iMarina

Acidemia Propionica: de los modelos y mecanismos hacia biomarcadores y terapias

  • PEREZ CERDA, Celia (Investigador/a)
  • NAVARRETE LOPEZ DE SORIA, Rosa Maria (Investigador/a)
  • Ruiz Desviat, Lourdes (Investigador/a)
  • Richard Rodriguez, Eva Maria (Investigador principal (IP))

Period: 30-12-2016 - 29-12-2019

Type of funding: National

Amount of funding: 169400,00 Euros.

  • iMarina

Estudios in vitro e in vivo de vías celulares alteradas y terapias genéticas en enfermedades neurometabólicas

  • Richard Rodriguez, Eva Maria (Investigador principal (IP))
  • Ruiz Desviat, Lourdes (Investigador principal (IP))
  • Rosa Maria Navarrete Lopez de Soria (Investigador/a)

Period: 01-01-2014 - 31-12-2016

  • iMarina

Proteomica y estudios celulares de estrés oxidativo y apoptosis en ennfermedades metabólicas hereditaias: avances en la fisiopatología y tratamiento.

  • Margarita Castro Reguera (Investigador/a)
  • Gamez Abascal, Maria Alejandra (Investigador/a)
  • Richard Rodriguez, Eva Maria (Investigador principal (IP))

Period: 01-01-2011 - 31-12-2013

  • iMarina

Estudio de la fisiopatololgía de las enfermedades metabólicas hereditarias mediante la aplicación de técnicas proteomicas y la caracterización de la función mitocondrial.

  • Pedro Ruiz Sala (Investigador/a)
  • Margarita Castro Reguera (Investigador/a)
  • Richard Rodriguez, Eva Maria (Investigador principal (IP))

Period: 10-01-2007 - 31-12-2010

  • iMarina

Bases moléculares de la respuesta in vivo e in vitro a biotina y vitamina b12 en pacientes con acidemias orgánicas.

  • Ruiz Desviat, Lourdes (Investigador/a)
  • Richard Rodriguez, Eva Maria (Investigador/a)
  • Begoña Merinero Cortes (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))

Period: 31-12-2006 - 30-12-2009

  • iMarina

Mecanismos responsables del fenotipo patológico en enfermedades neurometabólicas raras y aproximaciones terapéuticas personalizadas

  • Álvarez García, Mar (Investigador/a)
  • Richard Rodriguez, Eva Maria (Investigador principal (IP))
  • MARTINEZ PIZARRO, AINHOA (Investigador/a)
  • FULGENCIO COVIAN, ALEJANDRO (Investigador/a)
  • ALONSO BARROSO, ESMERALDA (Investigador/a)
  • MONTALVO DE LA PRIDA, ELENA (Investigador/a)
  • Ruiz Desviat, Lourdes (Investigador principal (IP))
... View more Collapse

Period: 01-06-2020 - 31-05-2023

Type of funding: National

Amount of funding: 145200,00 Euros.

  • iMarina

Estudios fisiopatológicos para la búsqueda de nuevas dianas terapéuticas en acidemia propiónica mediante la caracterización del modelo murino y el desarrollo de nuevos modelos celulares humanos basados en iPSCs

  • ALONSO BARROSO, ESMERALDA (Otros)
  • Ruiz Desviat, Lourdes (Director)
  • Richard Rodriguez, Eva Maria (Director)
  • Fernandez Piqueras, Jose (Autor o Coautor) Doctorando: Alonso Barroso, Esmeralda

29/10/2020

  • iMarina

B cell receptor-dependent antigen phagocytosis drives the germinal center response in vivo and in vitro

  • Alarcon Sanchez, Balbino (Director)
  • Richard Rodriguez, Eva Maria (Tutor) Doctorando: Martínez Riaño, Ana

1/1/2017

  • iMarina

Gene editing and hepatic direct cell reprogramming for the treatment of Primary Hyperoxaluria type 1

  • García Bravo, María (Director)
  • Segovia Sanz, José C. (Director)
  • Richard Rodriguez, Eva Maria (Tutor) Doctorando: Nieto Romero, Virginia

20/12/2021

  • iMarina

Hidrogeles fototérmicos con aplicación en ingeniería tisular ósea

  • Vilaboa Díaz, Nuria E. (Director)
  • Richard Rodriguez, Eva Maria (Tutor) Doctorando: Sánchez Casanova, Silvia

4/6/2021

  • iMarina

Regulación fisiológica de PTEN tras la estimulación con factores de crecimiento

  • Fernandez Piqueras, Jose (Autor o Coautor)
  • Carrera Ramírez, Ana Clara (Director)

18/9/2020

  • iMarina

Investigación traslacional en las cardiomiopatías asociadas a la acidemia propiónica.

  • Fernandez Piqueras, Jose (Autor o Coautor)
  • Ruiz Desviat, Lourdes (Director)
  • Richard Rodriguez, Eva Maria (Director)

1/1/2020

  • iMarina

Functional characterization of CAD, an antitumoral target controlling the de novo pyrimidine biosynthesis

  • Ramón Maiques, Santiago (Director)
  • Richard Rodriguez, Eva Maria (Tutor) Doctorando: Caño Ochoa. Francisco del.

26/6/2019

  • iMarina

Fragment based ligand discovery on focal adhesion kinase

  • Mayor Menendez, Federico (Autor o Coautor)
  • Lietha, Daniel (Director)

21/9/2018

  • iMarina

Exploring the roles of the SMC5/6 complex in cancer, ageing and kidney disorders

  • Fernandez Capetillo, Osca (Director)
  • Richard Rodriguez, Eva Maria (Tutor) Doctorando: Schiavoni, Federica

2/6/2017

  • iMarina

Estudios genéticos, fisiopatológicos y con oligonucleótidos antisentido en enfermedades neurometabólicas

  • Cadenas Alvarez, Susana (Autor o Coautor)
  • Fernandez Piqueras, Jose (Autor o Coautor)
  • Eva María Richard Rodríguez (Director)
  • Lourdes Ruiz Desviat (Director) Doctorando: Lorena Gallego Villar

1/1/2015

  • iMarina

This researcher has no patents or software licenses.

Last data update: 9/9/24 2:40 PM