Equipo de Investigación Dra. Belén Pérez, Centro Biología Molecular UAM. Bases moleculares de enfermedades neurometabólicas y Desarrollo de terapias específicas de mutación

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PUBLICACIONES

 

  1. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. Rosa Navarrete, Fátima Leal, Ana I Vega, Ana Morais-López, María Teresa Garcia-Silva , Elena Martín-Hernández, Pilar Quijada-Fraile, Ana Bergua, Inmaculada Vives, Inmaculada García-Jiménez, Raquel Yahyaoui , Consuelo Pedrón-Giner, Amaya Belanger-Quintana, Sinziana Stanescu, Elvira Cañedo, Oscar García-Campos, María Bueno-Delgado, Carmen Delgado-Pecellín, Isidro Vitoria, María Dolores Rausell, Elena Balmaseda, Mari Luz Couce, Lourdes R Desviat, Begoña Merinero, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerd, Belén Pérez. Eur J Hum Genet. 2019 Apr;27(4):556-562. doi: 10.1038/s41431-018-0330-7.
  2. Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment. Irene Bravo-Alonso, Rosa Navarrete, Ana Isabel Vega, Pedro Ruíz-Sala, Mª Teresa García Silva, Elena Martín-Hernández, Pilar Quijada-Fraile, Amaya Belanger-Quintana, Sinziana Stanescu, María Bueno, Isidro Vitoria, Laura Toledo, Mª Luz Couce, Inmaculada García-Jiménez, Ricardo Ramos-Ruiz, Miguel Ángel Martín, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Begoña Merinero, Belén Pérez and Pilar Rodríguez-Pombo. Journal of Clinical Medicine, 2019. 8(11).
  3. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain. Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez R, García Silva MT, G-Solana LG, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, MártinezBugallo F, Martín Viota L, Vitoria I, Lefeber D, Girós ML, Serrano M, Ugarte M, Perez B, Perez-Cerdá C. Clin Genet, 2019. 95(5): p. 615-626.
  4. From gestalt to gene: early predictive dysmorphic features of PMM2-CDG Martinez-Monseny A, Cuadras D, Bolasell M, Muchart J, Arjona C, Borregan M, Algrabli A, Montero R, Artuch R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M; CDG Spanish Consortium. J Med Genet, 2019. 56(4): p. 236-245.
  5. Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency Ina Knerr, Roberto Colombo, Jill Urquhart,  Ana Morais6 ,Begona Merinero, Alfonso Oyarzabal, Belén Pérez, Simon A. Jones, Rahat Perveen,  Mary A. Preece,  Yvonne Rogers, Eileen P. Treacy, Philip Mayne,  Giuseppe Zampino,  Sabrina MacKinnon,  Evangeline Wassmer, Wyatt W. Yue,  Ian Robinson,  Pilar Rodríguez-Pombo, Simon E. Olpin, Siddharth Banka. J Inherit Metab Dis, 2019. 42(5): p. 809-817.
  6. 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(2019) 42(3):407-413
  7. Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene Laura Arribas-Carreira, Irene Bravo-Alonso, Arístides López-Márqueza,Esmeralda Alonso-Barroso, Álvaro Briso-Montiano, Ignacio Arroyo,Magdalena Ugarte, Belén Pérez, Celia Pérez-Cerdáb, Pilar Rodríguez-Pombo,Eva Richard. Stem Cell Res, 2019. 39: p. 101503.
  8. Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model. Klaassen K1, Djordjevic M2, Skakic A1, Desviat LR3, Pavlovic S1, Perez B3, Stojiljkovic M4 Biochem Genet. 2018 Oct;56(5):533-541. doi: 10.1007/s10528-018-9858-5. Epub 2018 A
  9. Congenital disorders of glycosylation (CDG): Quo vadis?. Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J. Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.20179.
  10. Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants. Sandra Brasil1, 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. Orphanet J Rare Dis. 2018 Jul 24;13(1).
  11. Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type. E Richard, S Brasil, A Briso-Montiano, E Alonso-Barroso, ME Gallardo, B Merinero, M Ugarte, LR Desviat, B Pérez. Stem Cell Research (2018) 29:143-147
  12. Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria. Eva Richard, Lorena Gallego-Villar, Ana Rivera-Barahona, Alfonso Oyarzábal, Belén Pérez, Pilar Rodríguez-Pombo, Lourdes R Desviat. Oxidative Medicine and Cellular Longevity. 2018 Mar 20;2018
  13. Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy. Izquierdo-Serra M, Martínez-Monseny AF, López L, Carrillo-García J, Edo A, Ortigoza-Escobar JD, García Ó, Cancho-Candela R, Carrasco-Marina ML, Gutiérrez-Solana LG, Cuadras D, Muchart J, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Macaya A, Fernández-Fernández JM, Serrano M. International Journal of Molecular Sciences. 2018 Feb 22; 19(2)
  14. New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type. S Brasil, A Briso-Montiano, A Gámez, J Underhaug, M I Flydal, L Desviat, B Merinero, M Ugarte, A Martinez, B Pérez. Molecular Basis of Disease. 2018 Feb; 1864(2):640-648
  15. Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, et al. (2017). Hum Mutat.
  16. DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress. Yuste-Checa P, Vega AI, Martin-Higueras C, Medrano C, Gamez A, et al. (2017). PLoS One 12: e0179456.
  17. Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG. Yuste-Checa P, Brasil S, Gamez A, Underhaug J, Desviat LR, et al. (2017). Hum Mutat 38: 160-168.