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Author profile at the institutional portal

Rodriguez Pombo, Pilar pr.pombo@uam.es

Biología molecular / Universidad Autónoma de Madrid

Publications

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

An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis

  • Martin, Juan Cruz Herrero
  • Ansa, Benat Salegi
  • Alvarez-Rivera, Gerardo
  • Dominguez-Zorita, Sonia
  • Rodriguez-Pombo, Pilar
  • Perez, Belen
  • Calvo, Enrique
  • Miguez, David G
  • Cifuentes, Alejandro
  • Cuezva, Jose M
  • Formentini, Laura
... View more Collapse

Nature Metabolism (p. 209-+) - 1/2/2024

10.1038/s42255-023-00956-y View at source

  • ISSN 25225812

Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase (PPCDC) cause autosomal-recessive dilated cardiomyopathy

  • Bravo-Alonso, I.
  • Morín, M.
  • Arribas-Carreira, L.
  • Álvarez, M.
  • Pedrón-Giner, C.
  • Soletto, L.
  • Santolaria, C.
  • Ramón-Maiques, S.
  • Ugarte, M.
  • Rodríguez-Pombo, P.
  • Ariño, J.
  • Moreno-Pelayo, M.A.
  • Pérez, B.
... View more Collapse

Journal Of Inherited Metabolic Disease (p. 261-272) - 1/3/2023

10.1002/jimd.12584

  • ISSN 01418955
  • iMarina

Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome

  • Musokhranova U
  • Grau C
  • Vergara, C.
  • Rodríguez-Pascau, L.
  • Xiol, C.
  • Castells, A.A.
  • Alcántara, S.
  • Rodríguez-Pombo, P.
  • Pizcueta, P.
  • Martinell, M.
  • García-Cazorla, A.
  • Oyarzábal, A.
... View more Collapse

Journal Of Translational Medicine - 1/12/2023

10.1186/s12967-023-04622-5 View at source

  • ISSN 14795876

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

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

  • Stanescu, Sinziana
  • Bravo-Alonso, Irene
  • Belanger-Quintana, Amaya
  • Perez, Belen
  • Medina-Diaz, Montserrat
  • Ruiz-Sala, Pedro
  • Flores, Nathaly Paola
  • Buenache, Raquel
  • Arrieta, Francisco
  • Rodriguez-Pombo, Pilar;
... View more Collapse

Orphanet Journal Of Rare Diseases - 1/12/2022

Editor: BioMed Central Ltd

10.1186/s13023-022-02389-4 View at source

  • ISSN 17501172
  • ISSN/ISBN 1750-1172

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

  • Soriano-Sexto, Alejandro
  • Gallego, Diana
  • Leal, Fatima
  • Castejon-Fernandez, Natalia
  • Navarrete, Rosa
  • Alcaide, Patricia
  • Couce, Maria L.
  • Martin-Hernandez, Elena
  • Quijada-Fraile, Pilar
  • Pena-Quintana, Luis
  • Yahyaoui, Raquel
  • Correcher, Patricia
  • Ugarte, Magdalena
  • Rodriguez-Pombo, Pilar
  • Perez, Belen;
... View more Collapse

International Journal Of Molecular Sciences - 1/11/2022

10.3390/ijms232112850 View at source

  • ISSN 14220067

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

  • Arribas-Carreira, Laura
  • Dallabona, Cristina
  • Swanson, Michael A.
  • Farris, Joseph
  • Ostergaard, Elsebet
  • Tsiakas, Konstantinos
  • Hempel, Maja
  • Aquaviva-Bourdain, Cecile
  • Koutsoukos, Stefanos
  • Stence, Nicholas, V
  • Magistrati, Martina
  • Spector, Elaine B.
  • Kronquist, Kathryn
  • Christensen, Mette
  • Karstensen, Helena G.
  • Feichtinger, Rene G.
  • Achleitner, Melanie T.
  • Merritt, J. Lawrence
  • Perez, Belen
  • Ugarte, Magdalena
  • Grunewald, Stephanie
  • Riela, Anthony R.
  • Julve, Natalia
  • Arnoux, Jean-Baptiste
  • Haldar, Kasturi
  • Donnini, Claudia
  • Santer, Rene
  • Lund, Allan M.
  • Mayr, Johannes A.
  • Rodriguez-Pombo, Pilar
  • Van Hove, Johan L. K.;
... View more Collapse

Human Molecular Genetics (p. 917-933) - 3/10/2022

10.1093/hmg/ddac246 View at source

  • ISSN 14602083

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency

  • Knerr I
  • Colombo R
  • Urquhart J
  • Morais A
  • Merinero B
  • Oyarzabal A
  • Pérez B
  • Jones S
  • Perveen R
  • Preece M
  • Rogers Y
  • Treacy E
  • Mayne P
  • Zampino G
  • MacKinnon S
  • Wassmer E
  • Yue W
  • Robinson I
  • Rodríguez-Pombo P
  • Olpin S
  • Banka S
... View more Collapse

Journal Of Inherited Metabolic Disease (p. 809-817) - 1/9/2019

10.1002/jimd.12135 View at source

  • ISSN 01418955

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

  • Arribas-Carreira L
  • Bravo-Alonso I
  • López-Márquez A
  • Alonso-Barroso E
  • Briso-Montiano Á
  • Arroyo I
  • Ugarte M
  • Pérez B
  • Pérez-Cerdá C
  • Rodríguez-Pombo P
  • Richard E
... View more Collapse

Stem Cell Research - 1/8/2019

10.1016/j.scr.2019.101503 View at source

  • ISSN 18735061

Castillos de paja: [exposición]

  • Rodríguez Pombo, Pilar
  • Molina, César Antonio
  • Fundación Antonio Pérez

1/1/2006

  • iMarina

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

Roles of branched-chain amino acids regulation in oxidative stress revealed by fibroblasts from classic Maple Syrup Urine Disease patients

  • Guerra, Paula Fernandez
  • Cheng, Lei
  • Fenton, Robert A.
  • Bross, Peter
  • Rodriguez Pombo, Pilar
  • Palmfeldt, Johan;

Free Radical Biology And Medicine (p. S68-S69) - 1/7/2017

10.1016/j.freeradbiomed.2017.04.234 View at source

  • ISSN 08915849

THE GENOTYPIC SPECTRUM OF CLASSIC NONKETOTIC HYPERGLYCINEMIA DUE TO MUTATIONS IN GLDC AND AMT

  • Coughlin, Curtis, II
  • Swanson, Michael
  • Kronquist, Kathryn
  • Acquaviva, Cecile
  • Hutchin, Tim
  • Rodriguez-Pombo, Pilar
  • Kure, Shigeo
  • Vaisanen, Marja-Leena
  • Spector, Elaine
  • Creadon-Swindell, Geralyn
  • Bras-Goldberg, Ana
  • Rahikkala, Elisa
  • Moilanen, Jukka
  • Mahieu, Vincent
  • Matthijs, Gert
  • Bravo-Alonso, Irene
  • Perez-Cerda, Celia
  • Ugarte, Magdalena
  • Vinaey-Saban, Christine
  • Scharer, Gunter
  • Van Hove, Johan;
... View more Collapse

Molecular Genetics And Metabolism (p. 236-236) - 1/1/2016

  • ISSN 10967192
  • iMarina

CLINICAL AND GENETIC VARIABILITY IN NON-KETOTIC HYPERGLYCINEMIA (NKH)

  • Ugarte Perez, Magdalena
  • Rodriguez Pombo, Pilar
  • Perez-Cerda, C
  • Navarrete, R
  • Sanz, P
  • Garcia Munoz, F
  • Rodriguez-Pombo, P
... View more Collapse

Journal Of Inherited Metabolic Disease (p. S83-S83) - 1/1/2011

  • ISSN 01418955
  • iMarina

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.

Enfoque Cross-Omico para el descubrimiento de la base genética de errores innatos del metabolismo y para una intervencion terapeutica personalizada

  • SEGOVIA FALQUINA, CRISTINA (Investigador/a)
  • RUIZ SALA, PEDRO (Investigador/a)
  • Gamez Abascal, Maria Alejandra (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))
  • LEAL PEREZ, M FATIMA (Investigador/a)
  • Rodriguez Pombo, Pilar (Investigador/a)
  • VILAS LAGOA, ALICIA (Investigador/a)
  • VEGA PAJARES, ANA ISABEL (Investigador/a)
  • BRAVO ALONSO, IRENE (Investigador/a)
  • ARRIBAS CARREIRA, LAURA (Investigador/a)
  • GALLEGO MARTINEZ, DIANA (Investigador/a)
  • NAVARRETE LOPEZ DE SORIA, Rosa Maria (Investigador/a)
... View more Collapse

Period: 01-01-2020 - 31-12-2022

Type of funding: National

Amount of funding: 244420,00 Euros.

  • iMarina

Enfermedades neurometabólicas hereditarias: avances en el diagnóstico, la patofisiología y desarrollo de terapias dirigidas a estabilizar proteínas

  • Gamez Abascal, Maria Alejandra (Investigador/a)
  • Rodriguez Pombo, Pilar (Investigador/a)
  • Arduim Brasil, Sandra Dolores (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))

Period: 01-01-2017 - 31-12-2019

Type of funding: National

Amount of funding: 212052,50 Euros.

  • iMarina

Identificación de pacientes con mutaciones en genes implicados en la biosístesis y transporte de cofactores del metabolismo energético mitocondrial.

  • Alfonso Luis de Oyarzabal Sanz (Investigador/a)
  • Alfonso Luis Oyarzabal Sanz (Investigador/a)
  • Pedro Ruiz Sala (Investigador/a)
  • Isaac Ferrer Lopez (Investigador/a)
  • Begoña Merinero Cortes (Investigador/a)
  • Ascension Sanchez de la Chica (Investigador/a)
  • Rodriguez Pombo, Pilar (Investigador principal (IP))
... View more Collapse

Period: 01-01-2013 - 31-12-2015

  • 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

Bases moleculares de acidurias orgánicas en serbia

  • Kristel Klaassen (Investigador/a)
  • Sonja Pavlovic (Investigador/a)
  • Rodriguez Pombo, Pilar (Investigador/a)
  • Ruiz Desviat, Lourdes (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))

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

  • iMarina

Nuevas aproximaciones terapeuticas en el tratamiento de jarabe de arce

  • Pedro Ruiz Sala (Investigador/a)
  • Ugarte Perez, Magdalena (Investigador/a)
  • Celia Perez Cerda (Investigador/a)
  • Ascension Sanchez de la Chica (Investigador/a)
  • Gamez Abascal, Maria Alejandra (Investigador/a)
  • Rodriguez Pombo, Pilar (Investigador principal (IP))

Period: 01-01-2009 - 31-12-2011

  • iMarina

Bases moleculares de los defectos congénitos de glicosilación (CDG) Aplicación de nuevas herramientas para la caracterización bioquímica y genética de defectos en la glicosilación de proteínas.

  • Maria Jesus Ecay Crespo (Investigador/a)
  • Rodriguez Pombo, Pilar (Investigador/a)
  • Isaac Ferrer Lopez (Investigador/a)
  • Fernando Garcia Muñoz (Investigador/a)
  • Fatima Leal Perez (Investigador/a)
  • Celia Perez Cerda (Investigador principal (IP))

Period: 01-01-2008 - 31-12-2010

  • iMarina

Enfermedades metabólicas hereditarias: avances en diagnóstico clínico, bioquímico y genético.

  • Rodriguez Pombo, Pilar (Investigador/a)
  • Pedro Ruiz Sala (Investigador/a)
  • Ruiz Desviat, Lourdes (Investigador/a)
  • Richard Rodriguez, Eva Maria (Investigador/a)
  • Celia Perez Cerda (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador/a)
  • Begoña Merinero Cortes (Investigador/a)
  • Ugarte Perez, Magdalena (Investigador principal (IP))
... View more Collapse

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

  • iMarina

New horizons in peritoneal dialysis: assessment of novel osmotic agents and evaluation of associated cardiovascular disease

  • Lopez Cabrera, Manuel (Director)
  • González Mateo, Guadalupe (Director)
  • Rodriguez Pombo, Pilar (Tutor) Doctorando: Kopytina, Valeria

26/5/2023

  • iMarina

Caracterización genética de la Acidosis Láctica Congénita: Un ejemplo de análisis integral de una enfermedad rara

  • Pilar Rodríguez Pombo (Director)
  • María Belén Pérez González (Director) Doctorando: Bravo Alonso, Irene

10/9/2021

  • iMarina

Contributions of lymphatic vessels to the regulation of skin stem cells in physiology and cancer

  • Pérez Moreno, Mirna (Director)
  • Rodriguez Pombo, Pilar (Tutor) Doctorando: Peña Jiménez, Daniel

7/6/2019

  • iMarina

Gene editing mediated by non-homologous end-joining : a versatile approach for the gene therapy of hematopoietic stem cells from fanconi anemia patients

  • Río Galdo, Paula (Director)
  • Bueren Roncero, Juan Antonio (Director)
  • Rodriguez Pombo, Pilar (Tutor) Doctorando: Román Rodríguez, Francisco José

27/11/2018

  • iMarina

Dissecting the role of Gadd45b in hepatocellular carcinoma development

  • Salvador Sánchez, Jesús María (Director)
  • Rodriguez Pombo, Pilar (Tutor) Doctorando: Rosato, Umberto

21/4/2017

  • iMarina

Del gen a la patofisiología: Nuevas enfermedades asociadas al catabolismo de los aminoácidos ramificados

  • Rodriguez Pombo, Pilar (Director) Doctorando: Oyarzábal Sanz, Alfonso Luis De

14/6/2016

  • iMarina

This researcher has no patents or software licenses.

Last data update: 8/28/24 11:47 AM