Publicaciones de interés
Publicaciones en los últimos años:
2020
1. TITULO: Pathogenic variants of DNAJC12 and evaluation of the encoded co-chaperone as a genetic modifier of hyperphenylalaninemia
AUTORES: Gallego, Diana; Leal, Fátima; Gámez, Alejandra, Castro, Margarita; Navarrete, Rosa; Sanchez-Lijarcio, Obdulia; Vitoria, Isidro; Bueno-Delgado, María; Belanger-Quintana, Amaya; Morais, Ana; Pedrón-Giner, Consuelo; García, Inmaculada; Campistol, Jaume; Artuch, Rafael; Alcaide, Carlos; Cornejo, Veronica; Gil, David; Yahyaoui, Raque; Desviat, Lourdes R.; Ugarte, Magdalena; Martínez, Aurora; Pérez, Belén
REVISTA: Hum Mutat. 2020 Apr 25. doi: 10.1002/humu.24026
2. TITULO: Proteostasis regulators as potential rescuers of pmm2 activity
AUTORES: A Vilas*, P Yuste-Checa*, D Gallego, LR Desviat, M Ugarte, C Pérez-Cerda1, A Gámez and B Pérez.
REVISTA: Biochim Biophys Acta Mol Basis Dis. 2020 Jul 1;1866(7):165777. doi: 10.1016/j.bbadis.2020.165777
2019
3. TITULO: AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
AUTORES: Martínez-Monseny AF, Bolasell M, Callejón-Póo L, Cuadras D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero R, Pérez-Cerdá C, Pérez B, Artuch R, Jaeken J, Serrano M; and the CDG Spanish Consortium.
REVISTA: Annals of Neurology(2019) 85(5):740-751
INDICE DE IMPACTO: 9,496 (Q1, D1)
Clinical Neurology: 9/199
4. TITULO: Genes and variants underlying human congenital lactic acidosis: from genetics to personalized treatment.
AUTORES: Irene Bravo-Alonso1, Rosa Navarrete1, Ana Isabel Vega1, Pedro Ruíz-Sala1, Mª Teresa García Silva2, Elena Martín-Hernández2, Pilar Quijada-Fraile2, Amaya Belanger-Quintana3, Sinziana Stanescu3, María Bueno4, Isidro Vitoria5, Laura Toledo6, Mª Luz Couce7, Inmaculada García-Jiménez8, Ricardo Ramos-Ruiz9, Miguel Ángel Martín10, Lourdes R Desviat1, Magdalena Ugarte1, Celia Pérez-Cerdá1, Begoña Merinero1, Belén Pérez1* and Pilar Rodríguez-Pombo1* (shared authorship)
REVISTA: Journal of Clinical Medicine (in Press)
IMPACTO: 5,688 (Q1, D1)
Medicine, General and Internal 15/169
5. TITULO: Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene.
AUTORES: 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.
REVISTA: Stem Cell Res. 2019 Aug; 39:101503. doi: 10.1016/j.scr.2019.101503. Epub 2019 Jul 16.
6. TITULO: Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain
AUTORES: Celia Medrano, Ana Vega, Rosa Navarrete, M. Jesús Ecay, Rocío Calvo, Samuel Ignacio Pascual, Mónica Ruiz-Pons, LauraToledo, Inmaculada García-Jiménez, Ignacio Arroyo, Andrea Campo, M. Luz Couce, M. Rosario Domingo-Jiménez, M. Teresa García-Silva, Luis González-Gutiérrez-Solana, Loreto Hierro, Elena Martín-Hernández, Mercedes Martínez-Pardo, Susana Roldán, Miguel Tomás, Jose C. Cabrera, Francisco Mártinez-Bugallo, Lucía Martín-Viota, Isidro Vitoria-Miñana, Dirk J. Lefeber, M. Luisa Girós, Mercedes Serrano Gimare, Magdalena Ugarte, Belén Pérez* and Celia Pérez-Cerdá* (*shared senior authorship).
REVISTA: Clin Genet. 2019 May;95(5):615-626. doi: 10.1111/cge.13508. Epub 2019 Apr 3.
7. TITULO: Expanding the genetic and phenotypic spectrum of branched-chaiamino acid transferase 2 deficiency
AUTORES: Ina Knerr, Roberto Colombo, Jill Urquhart, Ana Morais6 ,Begona Merinero, Alfonso Oyarzabal, Belén Pérez, Simon A. Jones, Rahat Perveen, Mary A. Preece, Yvonne Rogers1, Eileen P. Treacy, Philip Mayne, Giuseppe Zampino, Sabrina MacKinnon, Evangeline Wassmer, Wyatt W. Yue, Ian Robinson, Pilar Rodríguez-Pombo, Simon E. Olpin, Siddharth Banka.
REVISTA: JIMD J Inherit Metab Dis. 2019 Sep;42(5):809-817. doi: 10.1002/jimd.12135. Epub 2019 Aug 1.
8. TITULO: Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene.
AUTORES: López-Márquez A, Alonso-Barroso E, Cerro-Tello G, Bravo-Alonso I, Arribas-Carreira L, Briso-Montiano Á, Navarrete R, Pérez-Cerdá C, Ugarte M, Pérez B, Desviat LR, Richard E.
REVISTA: Stem Cell Res. 2019 Jul;38: 101469. doi: 10.1016/j.scr.2019.101469. Epub 2019 May 22. Erratum in: Stem Cell Res. 2019 Aug;39:101513
.
9. TITULO: HIF1α Suppresses Tumor Cell Proliferation through Inhibition Of Aspartate Biosynthesis.
AUTORES: Meléndez-Rodríguez F, Urrutia AA, Lorendeau D, Rinaldi G, Roche O, Böğürcü-Seidel N, Ortega Muelas M, Mesa-Ciller C, Turiel G, Bouthelier A, Hernansanz-Agustín P, Elorza A, Escasany E, Li QOY, Torres-Capelli M, Tello D, Fuertes E, Fraga E, Martínez-Ruiz A, Pérez B, Giménez-Bachs JM, Salinas-Sánchez AS, Acker T, Sánchez Prieto R, Fendt SM, De Bock K, Aragonés J.
REVISTA: Cell Rep. 2019 Feb 26;26(9):2257-2265.e4. doi: 10.1016/j.celrep.2019.01.106.
INDICE DE IMPACTO: 7,815 (Q1), Cell Biology 29/193
10. TITULO: From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
AUTORES: Antonio Martinez-Monseny, Daniel Cuadras, Merce Bolasell,Jordi Muchart,4César Arjona, Mar Borregan, Adi Algrabli, Raquel Montero, Rafael Artuch, Ramón Velázquez-Fragua, Alfons Macaya, Celia Pérez-Cerdá, Belén Pérez-Duenas, Belén Pérez, Mercedes Serrano.
REVISTA: J Med Genet. 2019 Apr; 56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21.
INDICE DE IMPACTO: 5,899 (Q1) Genetic and Heredity 18/174
11. TITULO: Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
AUTORES: 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-Cerdá, Belén Pérez.
REVISTA: Eur J Hum Genet. 2019 Apr;27(4):556-562. doi: 10.1038/s41431-018-0330-0. Epub 2019 Jan 9.
12. TITULO: A new metabolic disorder in human cationic amino acid transporter-2 mimicking arginase 1 deficiency in newborn screening AUTORES 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. J Inherit Metab Dis. 2019 May;42(3):407-413. doi: 10.1002/jimd.12063. Epub 2019 Feb 21.
REVISTA: J Inherit Metab Dis. 2019 May;42(3):407-413. doi: 10.1002/jimd.12063. Epub 2019 Feb 21.
2018
13. Brasil S, et al. New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type. Biochim Biophys Acta. 2018 Feb;1864(2):640-648. doi: 10.1016/j.bbadis.2017.11.024.
PMID: 29197662
https://www.ncbi.nlm.nih.gov/pubmed/29197662
14. Gámez A, et al. Protein misfolding diseases: Prospects of pharmacological treatment. Clin Genet. 2018 Mar;93(3):450-458. doi: 10.1111/cge.13088. Review.
PMID: 28671287
https://www.ncbi.nlm.nih.gov/pubmed/28671287
15. Richard E, et al. Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria. Oxid Med Cell Longev. 2018 Mar 20;2018:1246069. doi: 10.1155/2018/1246069. eCollection 2018.
PMID:29743968
https://www.ncbi.nlm.nih.gov/pubmed/29743968
16. Richard E, et al. Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type. Stem Cell Res. 2018 May;29:143-147. doi: 10.1016/j.scr.2018.03.021.
PMID: 29660608.
https://www.ncbi.nlm.nih.gov/pubmed/29660608
17. Brasil S, et al. Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants. Orphanet J Rare Dis. 2018 Jul 24;13(1):125. doi: 10.1186/s13023-018-0862-y
PMID:30041674
