An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis.
Juan Cruz Herrero Martín, Beñat Salegi Ansa, Gerardo Álvarez-Rivera, Sonia Domínguez-Zorita, Pilar Rodríguez-Pombo, Belén Pérez, Enrique Calvo, Alberto Paradela, David G. Miguez, Alejandro Cifuentes, José M. Cuezva & Laura Formentini.
Nat Metab(2024)6(2):209-225 PubMed
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.
inhoa Martínez-Pizarro, Sara Picó, Arístides López-Márquez, Claudia Rodriguez-López, Elena Montalvo, Mar Alvarez, Margarita Castro, Santiago Ramón-Maiques, Belén Pérez, José J Lucas, Eva Richard, Lourdes R Desviat.
Hum Mol Genet (2024)(2024) 33(12):1074-1089. PubMed
Exploring miRNA-target gene pair detection in disease with coRmiT.
Jose Cordoba-Caballero, James R Perkins, Federico García-Criado, Diana Gallego, Alicia Navarro-Sánchez, Mireia Moreno-Estellés, Concepción Garcés, Fernando Bonet, Carlos Romá-Mateo, Rocio Toro, Belén Perez, Pascual Sanz, Matthias Kohl, Elena Rojano, Pedro Seoane, Juan A G Ranea.
Brief Bioinform(2024) 25(2) bbae060 PubMed
Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.
Laura Arribas-Carreira, Margarita Castro, Fernando García, Rosa Navarrete, Irene Bravo-Alonso, Francisco Zafra, Magdalena Ugarte, Eva Richard, Belén Pérez, Pilar Rodríguez-Pombo.
J Mol Sci (2024) 25(5): 2814. PubMed
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.
Clara Oliva, Angela Arias, Pedro Ruiz-Sala, Judit Garcia-Villoria, Rachel Carling, Jörgen Bierau, George J G Ruijter, Mercedes Casado, Aida Ormazabal, Rafael Artuch.
Clin Chem Lab Med(2024) 62(10):1991-2000. PubMed
Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG.
Diana Gallego, Mercedes Serrano, Jose Cordoba-Caballero, Alejandra Gámez, Pedro Seoane, James R Perkins, Juan A G Ranea, Belén Pérez.
Biochim Biophys Acta Mol Basis Dis (2024) 167163. PubMed
Comparison of the ABC and ACMG systems for variant classification.
Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A.
Eur J Hum Genet. (2024) 32(7):858-863. PubMed
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic academia.
Ulrika Simone Spangsberg Petersen, Maja Dembic, Ainhoa Martínez-Pizarro, Eva Richard, Lise Lolle Holm, Jesper Foged Havelund, Thomas Koed Doktor, Martin Røssel Larsen, Nils J Færgeman, Lourdes Ruiz Desviat, Brage Storstein Andresen.
Mol Ther Nucleic Acids (2024)35(1):102101. PubMed
Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.
Nastassja Himmelreich, Santiago Ramón-Maiques, Rosa Navarrete, Natalia Castejon-Fernandez, Sven F. Garbade, Aurora Martinez, Lourdes R. Desviat, Belén Pérez, Nenad Blau.
Mol Genet Metab (2024) 142(3):108514. PubMed
HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation.
Alicia Vilas, Álvaro Briso-Montiano, Cristina Segovia-Falquina, Arturo Martín-Martínez, Alejandro Soriano-Sexto, Diana Gallego, Vera Ruiz-Montés, Alejandra Gámez, Belén Pérez.
Mol Genet Metab (2024) 143(1-2):108538. PubMed
Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non- human primates.
Karol M Córdoba,Daniel Jericó,Lei Jiang,María Collantes,Manuel Alegre,Leyre García- Ruiz,Oscar Manzanilla,Ana Sampedro,Jose M Herranz,Iñigo Insausti,Antonio Martinez de la Cuesta,Francesco Urigo,Patricia Alcaide,María Morán,Miguel A Martín,José Luis Lanciego,Thibaud Lefebvre,Laurent Gouya,Gemma Quinconces,Carmen Unzu,Sandra Hervas- Stubbs,Juan M Falcón- Pérez,Estíbaliz Alegre,Azucena Aldaz,María A Fernández- Seara,Iván Peñuelas,Pedro Berraondo,Paolo G V Martini,Matias A Avila,Antonio Fontanellas.
Gut (2024)gutjnl-2024-332619. PubMed
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
Marin-Quilez A., Di Buduo C.A., Diaz-Ajenjo L., Abbonante V., Vuelta E., Soprano P.M., Miguel-Garcia C., Santos-Minguez S., Serramito-Gomez I., Ruiz-Sala P., Penarrubia M.J., Pardal E., Hernandez-Rivas J.M., Gonzalez-Porras J.R., Garcia-Tunon I., Benito R., Rivera J., Balduini A., Bastida J.M.
Blood (2023) 141(4)406-421 PubMed
Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis.
Pena-Burgos E.M., Regojo R.M., Saenz de Pipaon M., Santos-Simarro F., Ruiz-Sala P., Perez B., Esteban-Rodriguez M.I.
Pediatr Dev Pathol. (2023) 26(2);138-143 PubMed
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy.
Irene Bravo-Alonso, Matías Morin, Laura Arribas-Carreira, Mar Álvarez, Consuelo Pedrón-Giner, Lucia Soletto, Carlos Santolaria, Santiago Ramón-Maiques, Magdalena Ugarte, Pilar Rodríguez-Pombo, Joaquín Ariño, Miguel Ángel Moreno-Pelayo, Belén Pérez.
J Inherit Metab Dis (2023) 46(2) 261-271 PubMed
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency.
Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt J, Pérez B, Ugarte M, Grünewald S, Riela AR, Julve N, Arnoux JB, Haldar K, Donnini C, Santer R, Lund AM, Mayr JA, Rodriguez-Pombo P, Van Hove JLK.
Hum Mol Genet. (2023) 32(6): 917-933. PubMed
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster,Xinhua Bao, Fahad A. Bashiri, Bruria Ben Zeev, Giovanni Bisello, Ahmet Cevdet Ceylan, Yin-Hsiu Chien,Yew Sing Choy, Sarah H. Elsea, Lisa Flint, Àngels García-Cazorla, Charul Gijavanekar,Emel Yılmaz Gümüş, Muddathir H. Hamad, Burcu Hişmi, Tomas Honzik, Oya Kuseyri Hübschmann,Wuh-Liang Hwu, Salvador Ibáñez-Micó, Kathrin Jeltsch, Natalia Juliá-Palacios, Çiğdem Seher Kasapkara,Manju A. Kurian, Katarzyna Kusmierska, Ning Liu, Lock Hock Ngu, John D. Odom,Winnie Peitee Ong,Thomas Opladen, Mari Oppeboen, Phillip L. Pearl, Belén Pérez, Roser Pons,Agnieszka Magdalena Rygiel, Tan Ee Shien, Robert Spaull,Jolanta Sykut-Cegielska,Brahim Tabarki,Trine Tangeraas, Beat Thöny, TessaWassenberg, Yongxin Wen, Yusnita Yakob ai,Jasmine Goh Chew Yin, Jiri Zeman, Nenad Blau.
Molecular Genetics and Metabolism(2023) 139(3) 107624. PubMed
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Nastassja Himmelreich, Mariarita Bertoldi , Majid Alfadhel, Malak Ali Alghamdi , Yair Anikster, Xinhua Bao, Fahad A Bashiri , Bruria Ben Zeev, Giovanni Bisello, Ahmet Cevdet Ceylan, Yin-Hsiu Chien, Yew Sing Choy, Sarah H Elsea, Lisa Flint, Àngels García-Cazorla, Charul Gijavanekar, Emel Yılmaz Gümüş, Muddathir H Hamad, Burcu Hişmi, Tomas Honzik, Oya Kuseyri Hübschmann, Wuh-Liang Hwu, Salvador Ibáñez-Micó, Kathrin Jeltsch, Natalia Juliá-Palacios, Çiğdem Seher Kasapkara, Manju A Kurian, Katarzyna Kusmierska, Ning Liu, Lock Hock Ngu, John D Odom, Winnie Peitee Ong, Thomas Opladen, Mari Oppeboen, Phillip L Pearl, Belén Pérez, Roser Pons , Agnieszka Magdalena Rygiel, Tan Ee Shien , Robert Spaull , Jolanta Sykut-Cegielska , Brahim Tabarki , Trine Tangeraas, Beat Thöny, Tessa Wassenberg, Yongxin Wen , Yusnita Yakob, Jasmine Goh Chew Yin, Jiri Zeman.
Genetics and Metabolism (2023) 139(4):107647. PubMed
Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy.
Mar Álvarez, Pedro Ruiz-Sala, Belén Pérez, Lourdes Ruiz Desviat, Eva Richard.
Int J Mol Sci (2023) 24(3): 2182 PubMed
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome.
Uliana Musokhranova, Cristina Grau, Cristina Vergara, Laura Rodríguez-Pascau, Clara Xiol, Alba A Castells, Soledad Alcántara, Pilar Rodríguez-Pombo, Pilar Pizcueta, Marc Martinell, Angels García-Cazorla, Alfonso Oyarzábal.
J Transl Med.(2023) 21(1):756 PubMed
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Álvaro Martín-Rivada,Laura Palomino Pérez,Pedro Ruiz-Sala,Rosa Navarrete,Ana Cambra Conejero,Pilar Quijada Fraile,Ana Moráis López,Amaya Belanger-Quintana,Elena Martín-Hernández,Marcello Bellusci,Elvira Cañedo Villaroya,Silvia Chumillas Calzada,María Teresa García Silva,Ana Bergua Martínez,Sinziana Stanescu,Mercedes Martínez-Pardo Casanova,Miguel L.F. Ruano,Magdalena Ugarte,Belén Pérez,Consuelo Pedrón-Giner.
JIMD Reports (2022) 63(2)146-161 PubMed
Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.
Sinziana Stanescu , Amaya Belanger-Quintana , Borja Manuel Fernandez-Felix , Pedro Ruiz-Sala , Mercedes Del Valle , Fernando Garcia , Francisco Arrieta, Mercedes Martinez-Pardo.
Amino acids (2022) 54(5);777-786 PubMed
Technical Aspects of Coenzyme Q 10 Analysis: Validation of a New HPLC-ED Method.
Abraham J Paredes-Fuentes, Clara Oliva, Raquel Montero, Patricia Alcaide, George J G Ruijter, Judit García-Villoria, Pedro Ruiz-Sala, Rafael Artuch.
Antioxidants (Basel) (2022) 11(3)528 PubMed
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
Cristina Segovia-Falquina, Alicia Vilas, Fátima Leal, Francisco del Caño-Ochoa, Edwin P. Kirk, Magdalena Ugarte, Santiago Ramón-Maiques, Alejandra Gámez, Belén Pérez.
Human Mutation 43(10):1430-1442. PubMed
Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature.
Sinziana Stanescu, Irene Bravo-Alonso, Amaya Belanger-Quintana, Belen Pérez, Montserrat Medina-Diaz, Pedro Ruiz-Sala, Nathaly Paola Flores, Raquel Buenache, Francisco Arrieta, Pilar Rodríguez-Pombo.
Orphanet J Rare Dis(2022) 17(1)243. PubMed
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Obdulia Sánchez-Lijarcio, Delia Yubero, Fátima Leal, María L Couce, Luis González Gutiérrez-Solana, Eduardo López-Laso, Àngels García-Cazorla, Leticia Pías-Peleteiro, Begoña de Azua Brea, Salvador Ibáñez-Micó, Gonzalo Mateo-Martínez, Monica Troncoso-Schifferli, Scarlet Witting-Enriquez, Magdalena Ugarte, Rafael Artuch, Belén Pérez.
Clin Genet (2022) 102(1) 40-55. PubMed
Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning.
Briso-Montiano, A Vilas, E Richard, P Ruiz-Sala, E Morato, L R Desviat, M Ugarte, P Rodríguez-Pombo, B Pérez.
Biochim Biophys Acta Mol Basis Dis (2022) 1868(9):166433 PubMed
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.
Briso-Montiano A, Del Caño-Ochoa F, Vilas A, Velázquez-Campoy A, Rubio V, Pérez B, Ramón-Maiques S.
J Inherit Metab Dis (2022) 45(2): 318-333. PubMed
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
Patricia Alcaide, Isaac Ferrer-López, Leticia Gutiérrez, Fátima Leal, Elena Martín-Hernández, Pilar Quijada-Fraile, Marcello Bellusci, Ana Moráis, Consuelo Pedrón-Giner, Dolores Rausell, Patricia Correcher, María Unceta, Sinziana Stanescu, Magdalena Ugarte, Pedro Ruiz-Sala, Belén Pérez.
J clin Med (2022) 11(10):2933. PubMed
Modeling Splicing Variants Amenable to Antisense Therapy by Use of CRISPR-Cas9-Based Gene Editing in HepG2 Cells.
Arístides López-Márquez, Ainhoa Martínez-Pizarro, Belén Pérez, Eva Richard, Lourdes R Desviat.
Methods in molecular biology (Clifton, N.J.)(2022) 2434:167-184 PubMed
Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene.
Martínez-Pizarro A, Leal F, Holm LL, Doktor TK, Petersen USS, Bueno M, Thöny B, Pérez B, Andresen BS, Desviat LR.
Nucleic Acid Ther. (2022) 32(5):378-390. PubMed
Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.
M Jiménez Legido, C Cortés Ledesma , B Bernardino Cuesta , L López Marín, V Cantarín Extremera, C Pérez-Cerdá, B Pérez González, E López Martín, L González Gutiérrez-Solana.
Neurologia (2022)37(2)91-100. PubMed
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Alejandro Soriano-Sexto, Diana Gallego, Fátima Leal, Natalia Castejón-Fernández, Rosa Navarrete, Patricia Alcaide, María L. Couce, Elena Martín-Hernández,Pilar Quijada-Fraile, Luis Peña-Quintana, Raquel Yahyaoui, Patricia Correcher, Magdalena Ugarte, Pilar Rodríguez-Pombo and Belén Pérez.
Int J Mol Sci(2022) 23(21):12850. PubMed
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
Álvaro Martín-Rivada, Ana Cambra Conejero, Elena Martín-Hernández, Ana Moráis López, Amaya Bélanger-Quintana, Elvira Cañedo Villarroya, Pilar Quijada-Fraile, Marcelo Bellusci, Silvia Chumillas Calzada, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez-Pardo Casanova, Pedro Ruíz-Sala, Magdalena Ugarte, Belén Pérez González, Consuelo Pedrón-Giner.
J Pediatr Endocrinol Metab(2022) 325(10)1223-1231. PubMed
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 , Véronique Rüfenacht , 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 Häberle , Daan M F van Aalten , Nicola Brunetti-Pierri.
Nat Commun(2022) 13(1) 5212. PubMed
Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol.
Sinziana Stanescu , Amaya Belanger-Quintana , Borja Manuel Fernández-Felix , Pedro Ruiz-Sala , Patricia Alcaide , Francisco Arrieta , Mercedes Martínez-Pardo.
Antioxidants(2022)11(8):1588. PubMed
Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.
Gabriela Magali Papazoglu, Marisa Cubilla, Marcela Pereyra, Raquel Dodelson de Kremer , Belén Pérez , Luisa Sturiale, Carla Gabriela Asteggiano.
Glycoconj J. (2021) 38(2):191-200. PubMed
Severe anemia in patients with Propionic acidemia is associated with branched‑chain amino acid imbalance.
Sinziana Stanescu, Amaya Belanger‑Quintana, Borja Manuel Fernandez‑Felix, Francisco Arrieta,Victor Quintero, Maria Soledad Maldonado, Patricia Alcaide,Mercedes Martínez‑Pardo.
Orphanet J Rare Dis.(2021) 16(1):226 PubMed
CPEB alteration and aberrant transcriptome-polyadenylation unveil a treatable SLC19A3 deficiency in Huntington’s disease.
Sara Picó, Alberto Parras, María Santos-Galindo, Julia Pose-Utrilla, Margarita Castro, Enrique Fraga, Ivó H. Hernández, Ainara Elorza, Héctor Anta, Nan Wang, Laura Martí-Sánchez, Eulàlia Belloc, Paula García-Esparcia, Juan J. Garrido, Isidro Ferrer, Daniel Macías-García, Pablo Mir, Rafael Artuch, Belén Pérez, Félix Hernández, Pilar Navarro, José Luis López-Sendón, Teresa Iglesias, X. William Yang, Raúl Méndez and José J. Lucas.
Sci Transl Med. (2021) 13(613):eabe7104. PubMed
Evaluating, filtering and clustering genetic disease cohorts based on Human Phenotype Ontology data with Cohort Analyzer.
Elena Rojano, Jose Cordoba-Caballero, Fernando M. Jabato, Mercedes Serrano, Diana Gallego, Belén Pérez, Álvaro Parés-Aguilar, James R, Perkins, Juan A.G. Ranea, Pedro Seoane-Zonjic..
J Pers Med. (2021) 11(8):730. PubMed
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Eva Médico Salsench, Reza Maroofian, Ruizhi Deng, Kristina Lanko, Anita Nikoncuk, Belén Pérez, Obdulia Sánchez-Lijarcio, Salvador Ibáñez-Mico, Antonina Wojcik, Marcelo Vargas, Nouriya Abbas Al-Sannaa, Marian Y Girgis, Tainá Regina Damaceno Silveira, Peter Bauer, Audrey Schroeder, Chin-To Fong, Amber Begtrup, Meisam Babaei, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Mohammad Doosti, Najmeh Ahangari, Paria Najarzadeh Torbati, Ehsan Ghayoor Karimiani, David Murphy, Elisa Cali, Ibrahim H Kaya, Mohammad AlMuhaizea, Dilek Colak, Kelly J Cardona-Londoño, Stefan T Arold, Henry Houlden, Aida Bertoli-Avella, Namik Kaya, Tahsin Stefan Barakat.
Brain. (2021) 144(10):e85. PubMed
Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases.
Pedro Ruiz-Sala, Luis Peña-Quintana.
J Clin Med. (2021) 10(21):4855. PubMed
Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia.
Alonso-Barroso E, Pérez B, Desviat LR, Richard E.
Int J Mol Sci. (2021) 22(3):1161. PubMed
Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite.
Jabato FM, Córdoba-Caballero J, Rojano E, Romá-Mateo C, Sanz P, Pérez B, Gallego D, Seoane P, Ranea JAG, Perkins JR.
Sci Rep. (2021) 11(1):15062. PubMed
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.
Briso-Montiano A, Del Caño-Ochoa F, Vilas A, Velázquez-Campoy A, Rubio V, Pérez B, Ramón-Maiques S.
J Inherit Metab Dis. (2021) PubMed
Proteostasis regulators as potential rescuers of PMM2 activity.
Vilas A, Yuste-Checa P, Gallego D, Desviat LR, Ugarte M, Pérez-Cerda C, Gámez A, Pérez B.
Biochim Biophys Acta Mol Basis Dis (2020)1866(7):165777. PubMed
Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.
Fulgencio-Covián A, Alonso-Barroso E, Guenzel AJ, Rivera-Barahona A, Ugarte M, Pérez B, Barry MA, Pérez-Cerdá C, Richard E, Desviat LR.
Transl Res(2020)218:43-56. PubMed
Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic academia.
M Tamayo, A Fulgencio-Covián, J A Navarro-García, A Val-Blasco, G Ruiz-Hurtado, M Gil-Fernández,L Martín-Nunes,J A Lopez,L R Desviat,C Delgado,E Richard,M Fernández-Velasco.
Biochim Biophys Acta Mol Basis Dis (2020)1866(1)165586. PubMed
Pathogenic variants of DNAJC12 and evaluation of the encoded co-chaperone as a genetic modifier of hyperphenylalaninemia.
Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol J, Artuch R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A, Pérez B.
Hum Mutat (2020) 41(7):1329-1338. PubMed
The Genetic Landscape and Epidemiology of Phenylketonuria.
Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, Alberto Burlina, Barbara K. Burton,Carla Carducci, Ana E. Chiesa, John Christodoulou, Maja orCevi c, Lourdes R. Desviat,Aviva Eliyahu, Roeland A.F. Evers, Lena Fajkusova, Franc¸ois Feillet, Pedro E. Bonfim-Freitas,Maria Gi_zewska, Polina Gundorova, Daniela Karall, Katya Kneller, Sergey I. Kutsev,Vincenzo Leuzzi, Harvey L. Levy, Uta Lichter-Konecki, Ania C. Muntau, Fares Namour,Mariusz Oltarzewski, Andrea Paras, Belen Perez, Emil Polak, Alexander V. Polyakov,Francesco Porta, Marianne Rohrbach, Sabine Scholl-Bürgi, Norma Spécola, Maja Stojiljkovi c,Nan Shen, Luiz C. Santana-da Silva, Anastasia Skouma, Francjan van Spronsen, Vera Stoppioni, Beat Tho¨ny, Friedrich K. Trefz,Jerry Vockley, Youngguo Yu, Johannes Zschocke, Georg F. Hoffmann, Sven F.Garbade and Nenad Blau.
Am J Hum Genet. (2020) 107(2):234-250. PubMed
Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.
Sinziana Stanescu , Amaya Belanger-Quintana, Carlos Alcalde Martin,Celia Pérez-Cerdá Silvestre, Begoña Merinero Cortés, Belen Gonzalez Pérez,Carmen Fernández García-Abril, Francisco Arrieta Blanco,Esperanza Palacios Valverde, and Mercedes Martínez-Pardo Casanova.
Case Rep Pediatr. (2020) 1370293. PubMed
New and potential strategies for the treatment of PMM2-CDG.
Alejandra Gámez, Mercedes Serrano, Diana Gallego, Alicia Vilasa, Belén Pérez.
Biochim Biophys Acta Gen Subj. (2020) 1864(11):129686. PubMed
Metabolic Serendipities of Expanded Newborn Screening.
Raquel Yahyaoui, Javier Blasco-Alonso, Montserrat Gonzalo-Marín, Carmen Benito, Juliana Serrano-Nieto, Inmaculada González-Gallego, Pedro Ruiz-Sala , Belén Pérez, Domingo González-Lamuño.
Genes (Basel) (2020) 11(9);1018. PubMed
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
Marta Correa-Vela, Vincenzo Lupo, Marta Montpeyó, Paula Sancho, Anna Marcé-Grau, Jorge Hernández-Vara, Alejandra Darling, Alison Jenkins, Sandra Fernández-Rodríguez, Cristina Tello, Laura Ramírez-Jiménez, Belén Pérez, Ángel Sánchez-Montáñez, Alfons Macaya, María J Sobrido, Marta Martinez-Vicente, Belén Pérez-Dueñas, Carmen Espinós.
Ann Clin Transl Neurol (2020) 7(8):1436-1442. PubMed
PMM2‐CDG caused by uniparental disomy: Case report and literature review.
Laurien Vaes, George E. Tiller, Belén Pérez, Suzanne W. Boyer, Susan A. Berry, Kyriakie Sarafoglou, Eva Morava.
JIMD Rep(2020) 54;16-19. PubMed