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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

PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice

  • Martínez-Pizarro A
  • Picó S
  • López-Márquez A
  • Rodriguez-López C
  • Montalvo E
  • Alvarez M
  • Castro M
  • Ramón-Maiques S
  • Pérez B
  • Lucas JJ
  • Richard E
  • Desviat LR
... View more Collapse

Human Molecular Genetics (p. 1074-1089) - 5/6/2024

10.1093/hmg/ddae051 View at source

  • ISSN 14602083

Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia

  • Petersen, USS
  • Dembic, M
  • Martinez-Pizarro, A
  • Richard, E
  • Holm, LL
  • Havelund, JF
  • Doktor, TK
  • Larsen, MR
  • Faergeman, NJ
  • Desviat, LR
  • Andresen, BS
... View more Collapse

Molecular Therapy-Nucleic Acids - 12/3/2024

10.1016/j.omtn.2023.102101 View at source

  • ISSN 21622531

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

  • Arribas-Carreira L
  • Castro M
  • García F
  • Navarrete R
  • Bravo-Alonso I
  • Zafra F
  • Ugarte M
  • Richard E
  • Pérez B
  • Rodríguez-Pombo P
... View more Collapse

International Journal Of Molecular Sciences - 28/2/2024

10.3390/ijms25052814

  • ISSN 14220067
  • iMarina

Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia

  • Martínez-Pizarro, A
  • Calmels, N
  • Schalk, A
  • Wicker, C
  • Richard, E
  • Desviat, LR

Gene (p. 147902-147902) - 30/1/2024

10.1016/j.gene.2023.147902

  • ISSN 03781119
  • iMarina

Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria

  • Martínez-Pizarro A
  • Álvarez M
  • Dembic M
  • Lindegaard CA
  • Castro M
  • Richard E
  • Andresen BS
  • Desviat LR
... View more Collapse

Nucleic Acid Therapeutics (p. 134-142) - 1/1/2024

10.1089/nat.2024.0014

  • ISSN 21593337
  • iMarina

Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy

  • Álvarez, M.
  • Ruiz-Sala, P.
  • Pérez, B.
  • Desviat, L.R.
  • Richard, E.

International Journal Of Molecular Sciences - 1/2/2023

10.3390/ijms24032182 View at source

  • ISSN 14220067

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

O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis

  • Leandro R Soria
  • Georgios Makris
  • Alfonso M D´Alessio
  • Angela De Angelis
  • Iolanda Boffa
  • Veronica M Pravata
  • Veronique Rufenacht
  • Sergio Attanasio
  • Edoardo Nusco
  • Paola Arena
  • Andrew T Ferenbach
  • Debora Paris
  • Paola Cuomo
  • Andrea Motta
  • Matthew Nitzahn
  • Gerald S Lipshutz
  • Ainhoa Martínez-Pizarro
  • Eva Richard
  • Lourdes R Desviat
  • Johannes Haberle
  • Daan MF van Aalten
  • Nicola Brunetti-Pierri
... View more Collapse

Nature Communications - 1/12/2022

10.1038/s41467-022-32904-x View at source

  • ISSN 20411723

Modeling Splicing Variants Amenable to Antisense Therapy by Use of CRISPR-Cas9-Based Gene Editing in HepG2 Cells

  • López-Márquez A
  • Martínez-Pizarro A
  • Pérez B
  • Richard E
  • Desviat LR

Methods In Molecular Biology (p. 167-184) - 1/1/2022

10.1007/978-1-0716-2010-6_10 View at source

  • ISSN 10643745

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

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

Developing an antisense therapy for the frequent PKU splicing variant c.1066-11G>A

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

1/1/2023

  • 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

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

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

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

Astrocytes derived from induced pluripotent stem cells as a disease model for propionic acidemia

  • 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

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

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

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.

BRIDGing the research and INnovation Gap for Rare Diseases in Europe by upgrading excellence of IMGGE. ENTIDAD FINANCIADORA: HORIZON-WIDERA-2023-ACCESS-02

  • Richard Rodriguez, Eva Maria (Miembro del equipo de investigación)

Period: From 01-03-2024

  • iMarina

Generación de organoides y tejidos 3D como modelo de estudio de enfermedades raras ENTIDAD FINANCIADORA: Ciberer convocatoria grupos de trabajo 2023

  • Richard Rodriguez, Eva Maria (Miembro del equipo de investigación)

Period: 01-02-2024 - 30-11-2025

  • iMarina

Enfermedades neurometabólicas raras: de la investigación en nuevos modelos de enfermedad a terapias dirigidas

  • MONTALVO DE LA PRIDA, ELENA (Investigador/a)
  • MARTINEZ PIZARRO, AINHOA (Investigador/a)
  • Richard Rodriguez, Eva Maria (Investigador principal (IP))
  • Ruiz Desviat, Lourdes (Investigador principal (IP))

Period: 01-09-2023 - 31-08-2026

Type of funding: National

Amount of funding: 237500,00 Euros.

  • iMarina

Elucidation of cardiac electrophysiological alterations in propionic acidemia: Towards the identification of targets for therapeutics

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

Period: 01-05-2022 - 30-06-2024

  • 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

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

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

Red de recursos genómicos, funcionales, clínicos y terapéuticos para el estudio de las enfermedades raras neurológicas ENTIDAD FINANCIADORA: Programas de actividades de I+D entre grupos de investigación de la Comunidad de Madrid (Biomedicina S2017/BMD-3721)

  • Richard Rodriguez, Eva Maria (Miembro del equipo de investigación)

Period: 01-05-2018 - 30-05-2021

  • iMarina

Bases moleculares de las enfermedades neurometabólicas y desarrollo de terapias específicas de mutación. ENTIDAD FINANCIADORA: Fundación Gemio.

  • Richard Rodriguez, Eva Maria (Miembro del equipo de investigación)

Period: 01-03-2016 - 31-03-2020

  • 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

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

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

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

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

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

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

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