Perez Gonzalez, Maria Belen belen.perez@uam.es
Publications
- Articles 184
- Books 0
- Book chapters 6
- Conferences 9
- Working papers 4
- Technical reports 0
- Research projects 18
- Supervised theses 19
- Patent or software license 1
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
Human Molecular Genetics (p. 1074-1089) - 5/6/2024
10.1093/hmg/ddae051 View at source
- ISSN 14602083
Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG
- Gallego, Diana
- Serrano, Mercedes
- Cordoba-Caballero, Jose
- Gamez, Alejandra
- Seoane, Pedro
- Perkins, James R
- Ranea, Juan A G
- Perez, Belen
Biochimica Et Biophysica Acta. Molecular Basis Of Disease - 24/4/2024
- ISSN 09254439
- iMarina
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
International Journal Of Molecular Sciences - 28/2/2024
- 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
Nature Metabolism (p. 209-+) - 1/2/2024
10.1038/s42255-023-00956-y View at source
- ISSN 25225812
- iMarina
- iMarina
Exploring miRNA-target gene pair detection in disease with coRmiT.
- Cordoba-Caballero, Jose
- Perkins, James R
- Garcia-Criado, Federico
- Gallego, Diana
- Navarro-Sanchez, Alicia
- Moreno-Estelles, Mireia
- Garces, Concepcion
- Bonet, Fernando
- Roma-Mateo, Carlos
- Toro, Rocio
- Perez, Belen
- Sanz, Pascual
- Kohl, Matthias
- Rojano, Elena
- Seoane, Pedro
- Ranea, Juan A G
Briefings In Bioinformatics - 22/1/2024
- ISSN 14675463
- iMarina
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.
Journal Of Inherited Metabolic Disease (p. 261-272) - 1/3/2023
- ISSN 01418955
- 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
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
- Himmelreich, N.
- Bertoldi, M.
- Alfadhel, M.
- Alghamdi, M.A.
- Anikster, Y.
- Bao, X.
- Bashiri, F.A.
- Zeev, B.B.
- Bisello, G.
- Ceylan, A.C.
- Chien, Y.H.
- Choy, Y.S.
- Elsea, S.H.
- Flint, L.
- García-Cazorla, A.
- Gijavanekar, C.
- Gümüş, E.Y.
- Hamad, M.H.
- Hişmi, B.
- Honzik, T.
- Hübschmann, O.K.
- Hwu, W.L.
- Ibáñez-Micó, S.
- Jeltsch, K.
- Juliá-Palacios, N.
- Kasapkara, Ç.S.
- Kurian, M.A.
- Kusmierska, K.
- Liu, N.;...
Molecular Genetics And Metabolism - 1/1/2023
10.1016/j.ymgme.2023.107624 View at source
- ISSN 10967192
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes (Molecular Genetics and Metabolism (2023) 139(3), (S1096719223002548), (10.1016/j.ymgme.2023.107624))
- Himmelreich, N.
- Bertoldi, M.
- Alfadhel, M.
- Alghamdi, M.A.
- Anikster, Y.
- Bao, X.
- Bashiri, F.A.
- Zeev, B.B.
- Bisello, G.
- Ceylan, A.C.
- Chien, Y.H.
- Choy, Y.S.
- Elsea, S.H.
- Flint, L.
- García-Cazorla, A.
- Gijavanekar, C.
- Gümüş, E.Y.
- Hamad, M.H.
- Hişmi, B.
- Honzik, T.
- Kuseyri Hübschmann, O.
- Hwu, W.L.
- Ibáñez-Micó, S.
- Jeltsch, K.
- Juliá-Palacios, N.
- Kasapkara, Ç.S.
- Kurian, M.A.
- Kusmierska, K.;...
Molecular Genetics And Metabolism - 1/1/2023
10.1016/j.ymgme.2023.107647 View at source
- ISSN 10967192
A crowdsourcing database for the copy-number variation of the Spanish population
- López-López D
- Roldán G
- Fernández-Rueda JL
- Bostelmann G
- Carmona R
- Aquino V
- Perez-Florido J
- Ortuño F
- Pita G
- Núñez-Torres R
- González-Neira A
- Alonso A
- Salgado-Garrido J
- Pasalodos-Sanchez S
- Ayuso C
- Minguez P
- Avila-Fernandez A
- Corton M
- Artuch R
- Borrego S
- Antiñolo G
- Carracedo A
- Amigo J
- Castaño LA
- Tejada I
- Delmiro A
- Espinos C
- Grinberg D
- Guillén E
- Lapunzina P
- Lopez-Escámez JA
- Gallego-Martinez A
- Martí R
- Rovira E
- Millán JM
- Moreno MA
- Morin M
- Moreno-Galdó A
- Fernández-Cancio M
- Morte B
- Mulero V
- García D
- Nunes V
- Palau F
- Perez B
- Jurado LP
- Perona R
- Pujol A
- Ramos F
- Lopez E
- Ribes A
- Rosell J
- Surrallés J
- Peña-Chilet M
- Dopazo J
Human Genomics - 1/1/2023
10.1186/s40246-023-00466-8 View at source
- ISSN 14797364
This researcher has no books.
Four years’ experience in the diagnosis of very long-chain acyl-coa dehydrogenase deficiency in infants detected in three spanish newborn screening centers
- Merinero B, Alcaide P, Martín-Hernández E, Morais A, García-Silva MT, Quijada-Fraile P, Pedrón-Giner C, Dulin E, Yahyaoui R, Egea JM, Belanger-Quintana A, Blasco-Alonso J, Fernandez Ruano ML, Besga B, Ferrer-López I, Leal F, Ugarte M, Ruiz-Sala P, Pérez B, Pérez-Cerdá C
JIMD Reports (p. 63-74) - 1/1/2018
Editor: Springer
10.1007/8904_2017_40 View at source
- ISSN 21928304
- ISSN/ISBN 2192-8312
- Dialnet
- iMarina
Protocolo de diagnóstico y tratamiento de los defectos congénitos de glicosilación
- Pérez-Cerdá Silvestre, Celia
- Girós Blasco, M
- Serrano, Mercedes
- Pérez Dueñas, Belén
- Ecay, María Jesús
- Medrano, Celia
- Gort Mas, Laura
- Pérez González, María Belén
Protocolos De Diagnóstico Y Tratamiento De Los Errores Congénitos Del Metabolismo (p. 271-290) - 1/1/2018
- iMarina
Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature
- Vitoria, I
- Martin-Hernandez, E
- Pena-Quintana, L
- Bueno, M
- Quijada-Fraile, P
- Dalmau, J
- Molina-Marrero, S
- Perez, B
- Merinero, B
Jimd Reports (p. 11-20) - 1/1/2015
10.1007/8904_2014_382 View at source
- ISSN 21928304
Minigenes to confirm exon skipping mutations
- Desviat LR, Pérez B, Ugarte M
Methods In Molecular Biology (p. 37-47) - 23/4/2012
10.1007/978-1-61779-767-5_3 View at source
- ISSN 10643745
RNA-Based Therapies for Inherited Metabolic Diseases
- Pérez B
- Ugarte M
- Desviat LR
Rna Technologies (p. 357-370) - 1/1/2012
10.1007/978-3-642-27426-8_14 View at source
- ISSN 21979731
Mild clinical and biochemical phenotype in two patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)
- Casado M., O'Callaghan M., Montero R., Pérez-Cerda C., Pérez B., Briones P., Quintana E., Muchart J., Aracil A., Pineda M., Artuch R.
Cerebellum (p. 557-563) - 1/6/2012
10.1007/s12311-011-0313-y View at source
- ISSN 14734222
EXPANDING OUR KNOWLEDGE OF CONGENITAL DISORDER OF GLYCOSYLATION-DPAGT1 TYPE
- Pascual Pascual, Samuel Ignacio
- Perez Villacastin, Benjamin
- Perez, B
- Vega, A
- Medrano, C
- Martin-Higueras, C
- Pascual, S, I
- Arroyo, I
- Domingo, R
- Artuch, R
- Briones, P
- Ugarte, M
- Perez-Cerda, C
Journal Of Inherited Metabolic Disease (p. S113-S113) - 1/1/2012
- ISSN 01418955
- iMarina
Association of cerebrospinal fluid homovanillic acid and neurological diseases
- Perez Villacastin, Benjamin
- Molero, M
- Serrano, M
- Ortez, C
- Ormazabal, A
- Tondo, M
- Perez-Duenas, B
- Perez, B
- Lopez-Laso, E
- Garcia-Silva, M T
- Pineda, M
- Campistol, J
- Garcia-Cazorla, A
- Artuch, R
Journal Of Inherited Metabolic Disease (p. S131-S131) - 1/1/2011
- ISSN 01418955
- iMarina
MILD HOMOCYSTEINEMIA AND METHYLMALONIC ACIDURIA IN A CASE WITH PANCYTOPENIA DUE TO TRANSCOBALAMIN II DEFICIENCY
- Perez Villacastin, Benjamin
- Merinero, B
- Lama, R
- Morais, A
- Ruiz Sala, P
- Sanz, P
- Castro, M
- Garcia, M J
- Leal, F
- Perez-Cerda, C
- Perez, B
- Ugarte, M
Journal Of Inherited Metabolic Disease (p. S158-S158) - 1/1/2010
- ISSN 01418955
- iMarina
Study of the C677T polymorphism and plasma homocysteine levels
- González Martín-Moro B
- Pérez B
- Santiuste Puente C
- Desviat L
- Ugarte M
- Pérez M
- Pardo Vigo A
- Matíes Prats M
Quimica Clinica (p. 41-45) - 12/9/2005
- ISSN 11392436
- iMarina
Molecular basis of non-PKU hyperphenylalaninaemia in Spain: Prevalence of A403V, a mutation with high residual activity
- Desviat LR, Pérez B, Ugarte M
Journal Of Inherited Metabolic Disease (p. 227-230) - 20/5/1996
10.1007/bf01799436 View at source
- ISSN 01418955
PHENOTYPE DISTRIBUTION IN THE SPANISH PHENYLKETONURIA POPULATION AND RELATED GENOTYPES
- Ugarte Perez, Magdalena
- Ruiz Desviat, Lourdes
- Perez Gonzalez, Maria Belen
- Martinezpardo, M
- Colmenares, AR
- Garcia, MJ
Journal Of Inherited Metabolic Disease (p. 366-368) - 1/5/1994
10.1007/bf00711832 View at source
- ISSN 01418955
DIFFERENT PHENOTYPIC MANIFESTATIONS ASSOCIATED WITH IDENTICAL PHENYLKETONURIA GENOTYPES IN 2 SPANISH FAMILIES
- Ugarte Perez, Magdalena
- Ruiz Desviat, Lourdes
- Perez Gonzalez, Maria Belen
- Garcia, MJ
Journal Of Inherited Metabolic Disease (p. 377-378) - 1/5/1994
10.1007/bf00711839 View at source
- ISSN 01418955
A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening
- Yahyaoui R, Blasco-Alonso J, Benito C, Rodríguez-García E, Andrade F, Aldámiz-Echevarría L, Muñoz-Hernández MC, Vega AI, Pérez-Cerdá C, García-Martín ML, Pérez B
Journal Of Inherited Metabolic Disease (p. 407-413) - 1/5/2019
- ISSN 01418955
- iMarina
Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency
- Perez Gonzalez, Maria Belen
- Ortez, C
- Jou, C
- Cortes-Saladelafont, E
- Moreno, J
- Perez, A
- Ormazabal, A
- Perez-Cerda, C
- Perez, B
- Artuch, R
- Cusi, V
- Garcia-Cazorla, A
Infantile Parkinsonism And Gabaergic Hypotransmission In A Patient With Pyruvate Carboxylase Deficiency (p. 302-306) - 15/12/2013
Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of aminoadipic semialdehyde synthase deficiency
- Perez Gonzalez, Maria Belen
- Tondo, Mireia
- Calpena, Eduardo
- Arriola, Gema
- Sanz, Paloma
- Martorell, Loreto
- Ormazabal, Aida
- Castejon, Esperanza
- Palacin, Manuel
- Ugarte, Magdalena
- Espinos, Carmen
- Perez, Belen
- Perez-Duenas, Belen
- Artuch, Rafael
Molecular Genetics And Metabolism (p. 231-236) - 1/11/2013
10.1016/j.ymgme.2013.06.021 View at source
- ISSN 10967192
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)
Period: 01-01-2020 - 31-12-2022
Type of funding: National
Amount of funding: 244420,00 Euros.
- iMarina
Programa de actividades de I+D RAREGENOMICS-CM
- Perez Gonzalez, Maria Belen (Investigador/a)
Period: 01-01-2018 - 31-12-2021
- 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
Acidemia metilmalónica: Identificación de genes responsables, generación de modelos celulares de enfermedas e investigación en terapias.
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
- Ana Isabel Vega Pajares (Investigador/a)
- Gamez Abascal, Maria Alejandra (Investigador/a)
- Yuste Checa, Patricia (Investigador/a)
- M Fatima Leal Perez (Investigador/a)
Period: 01-01-2014 - 31-12-2016
- iMarina
Desarrollo de chaperonas farmacológicas para el tratamiento de infermedades raras neurometabólicas.
- Gamez, Alejandra (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
Period: 01-01-2013 - 31-12-2016
- 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))
Period: 01-01-2012 - 31-12-2015
- iMarina
La mitocondria y su implicación en patología humana (Grupo CEDEM)
- Sanchez Muñoz, Aranzazu (Investigador principal (IP))
- Fulvio Santacatterina (Investigador/a)
- Laura Formentini (Investigador/a)
- Garcia Bermudez, Javier (Investigador/a)
- Willers, Imke María (Investigador/a)
- Satrustegui Gil Delgado, Jorgina (Investigador principal (IP))
- Ugarte Perez, Magdalena (Investigador principal (IP))
- Cuezva Marcos, Jose Manuel (Investigador principal (IP))
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
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 terapias en enfermedades metabólicas hereditarias: Terapia génica de modificación de mRNAs y chaperonas farmacológicas.
- Gamez, Alejandra (Investigador/a)
- Sandra Arduim Brasil (Investigador/a)
- Ugarte Perez, Magdalena (Investigador/a)
- Fatima Leal Perez (Investigador/a)
- Ana Isabel Vega Pajares (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
Period: 01-01-2011 - 31-12-2013
- iMarina
Caracterización funcional de mutaciones de splicing y de parada prematura de la traducción en acidemias orgánicas Investigación en terapias específicas de mutación.
- Sanchez Alcudia, Rocio (Investigador/a)
- Ana Rincon Vela (Investigador/a)
- Ana Jorge Finnigan (Investigador/a)
- Rosa Navarrete Lopez de Soria (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador/a)
- Ruiz Desviat, Lourdes (Investigador principal (IP))
Period: 10-01-2007 - 31-12-2010
- iMarina
Desarrollo de modelos con fines diagnósticos y terapéuticos para la deficiencia de fosfomanomutasa 2
- María Belén Pérez González (Director) Doctorando: Alicia Vilas Lagoa
1/1/2023
- 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
Desarrollo de modelos para la evaluación de terapias con chaperonas farmacológicas en aciduria metilmalónica y deficiencia en fosfomanomutasa
- Fernandez Piqueras, Jose (Autor o Coautor)
- Perez Gonzalez, Maria Belen (Director) Doctorando: Briso-Montiano Pastrana, Alvaro
23/7/2020
- iMarina
Role of URI in intestinal homeostasis and radiation enteropathy
- Djouder, Nabil (Director)
- Perez Gonzalez, Maria Belen (Tutor) Doctorando: Chaves Pérez, Almudena
8/2/2019
- iMarina
Aplicación de la secuenciación masiva de DNA al diagnóstico de los defectos congénitos de glicosilación y de glucogenosis
- Perez Gonzalez, Maria Belen (Director) Doctorando: Medrano Rodríguez, Celia
9/3/2017
- iMarina
Bases genéticas de la respuesta radioadaptativa en timocitos de ratón
- Fernandez Piqueras, Jose (Director)
- Manuel Malave Galiana (Director)
2/2/2015
- iMarina
Desarrollo de terapias específicas de mutación en enfermedades metabólicas hereditarias
- Perez Gonzalez, Maria Belen (Director) Doctorando: Patricia Yuste Checa
1/1/2015
- iMarina
Implicación de JAK2 en el desarrollo de los linfomas linfoblásticos de células T
- Fernandez Piqueras, Jose (Codirector)
- Pilar López Nieva (Director) Doctorando: Roncero Sánchez, Ana María
1/1/2015
- iMarina
Confirmación y caracterización de ADAMTSL3 y HMGA2 como dos nuevas dianas de transcripción de SHOX, y su implicación en la regulación del crecimiento óseo
- Cruces Pinto, Jesus (Autor o Coautor)
- Perez Gonzalez, Maria Belen (Autor o Coautor)
- Alberta Belinchón Martínez (Director) Doctorando: Alberta Belinchón Martínez
1/1/2014
- iMarina
Mecanismos patogénicos de las mutaciones en el gen nf1: Bases moleculares y celulares
- AYUSO GARCIA, MARIA DEL CARMEN TOMASA (Autor o Coautor)
- Perez Gonzalez, Maria Belen (Autor o Coautor)
- Varela Nieto, Isabel (Tutor)
1/1/2013
- iMarina
Researcher profiles
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ORCID
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Scopus Author ID
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Dialnet id