Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia

por Morejon-Garcia, Patricia, Keren, Boris, Marcos-Alcalde, Iñigo, Gomez-Puertas, Paulino, Mochel, Fanny, Lazo, Pedro. A.
Publicado 2021

Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

por García-Hernández, Juan L., Corchete, Luis A., Marcos-Alcalde, Íñigo, Gómez-Puertas, Paulino, Fons, Carmen, Lazo, Pedro A.
Publicado 2021

A nucleotide-controlled conformational switch modulates the activity of eukaryotic IMP dehydrogenases

por Buey, Rubén M., Fernández-Justel, David, Marcos-Alcalde, Íñigo, Winter, Graeme, Gómez-Puertas, Paulino, de Pereda, José María, Luis Revuelta, José
Publicado 2017

Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome

por Lazo, Pedro A., García, Juan L., Gómez-Puertas, Paulino, Marcos-Alcalde, Íñigo, Arjona, Cesar, Villarroel, Alvaro, González-Sarmiento, Rogelio, Fons, Carmen
Publicado 2020

Diversity of mechanisms to control bacterial GTP homeostasis by the mutually exclusive binding of adenine and guanine nucleotides to IMP dehydrogenase

por Fernández‐Justel, David, Marcos‐Alcalde, Íñigo, Abascal, Federico, Vidaña, Nerea, Gómez‐Puertas, Paulino, Jiménez, Alberto, Revuelta, José L., Buey, Rubén M.
Publicado 2022

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

por Puisac, Beatriz, Marcos-Alcalde, Iñigo, Hernández-Marcos, María, Tobajas Morlana, Pilar, Levtova, Alina, Schwahn, Bernd C., DeLaet, Corinne, Lace, Baiba, Gómez-Puertas, Paulino, Pié, Juan
Publicado 2018

VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy

por Marcos, Ana T., Martín‐Doncel, Elena, Morejón‐García, Patricia, Marcos‐Alcalde, Iñigo, Gómez‐Puertas, Paulino, Segura‐Puimedon, María, Armengol, Lluis, Navarro‐Pando, José M., Lazo, Pedro A.
Publicado 2020

Two-step ATP-driven opening of cohesin head

por Marcos-Alcalde, Íñigo, Mendieta-Moreno, Jesús I., Puisac, Beatriz, Gil-Rodríguez, María Concepción, Hernández-Marcos, María, Soler-Polo, Diego, Ramos, Feliciano J., Ortega, José, Pié, Juan, Mendieta, Jesús, Gómez-Puertas, Paulino
Publicado 2017

Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11

por Latorre‐Pellicer, Ana, Ascaso, Ángela, Lucia‐Campos, Cristina, Gil‐Salvador, Marta, Arnedo, María, Antoñanzas, Rebeca, Ayerza‐Casas, Ariadna, Marcos‐Alcalde, Iñigo, Gómez‐Puertas, Paulino, Ramos, Feliciano J., Pié, Juan, Puisac, Beatriz
Publicado 2021

Computational Modeling and Design of New Inhibitors of Carbapenemases: A Discussion from the EPIC Alliance Network

por Dahdouh, Elias, Allander, Lisa, Falgenhauer, Linda, Iorga, Bogdan I., Lorenzetti, Stefano, Marcos-Alcalde, Íñigo, Martin, Nathaniel I., Martínez-Martínez, Luis, Mingorance, Jesús, Naas, Thierry, Rubin, Joseph E., Spyrakis, Francesca, Tängdén, Thomas, Gómez-Puertas, Paulino
Publicado 2022

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

por Latorre-Pellicer, Ana, Ascaso, Ángela, Trujillano, Laura, Gil-Salvador, Marta, Arnedo, Maria, Lucia-Campos, Cristina, Antoñanzas-Pérez, Rebeca, Marcos-Alcalde, Iñigo, Parenti, Ilaria, Bueno-Lozano, Gloria, Musio, Antonio, Puisac, Beatriz, Kaiser, Frank J., Ramos, Feliciano J., Gómez-Puertas, Paulino, Pié, Juan
Publicado 2020

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

por Latorre-Pellicer, Ana, Gil-Salvador, Marta, Parenti, Ilaria, Lucia-Campos, Cristina, Trujillano, Laura, Marcos-Alcalde, Iñigo, Arnedo, María, Ascaso, Ángela, Ayerza-Casas, Ariadna, Antoñanzas-Pérez, Rebeca, Gervasini, Cristina, Piccione, Maria, Mariani, Milena, Weber, Axel, Kanber, Deniz, Kuechler, Alma, Munteanu, Martin, Khuller, Katharina, Bueno-Lozano, Gloria, Puisac, Beatriz, Gómez-Puertas, Paulino, Selicorni, Angelo, Kaiser, Frank J., Ramos, Feliciano J., Pié, Juan
Publicado 2021

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

por Krab, Lianne C., Marcos-Alcalde, Iñigo, Assaf, Melissa, Balasubramanian, Meena, Andersen, Janne Bayer, Bisgaard, Anne-Marie, Fitzpatrick, David R., Gudmundsson, Sanna, Huisman, Sylvia A., Kalayci, Tugba, Maas, Saskia M., Martinez, Francisco, McKee, Shane, Menke, Leonie A., Mulder, Paul A., Murch, Oliver D., Parker, Michael, Pie, Juan, Ramos, Feliciano J., Rieubland, Claudine, Rosenfeld Mokry, Jill A., Scarano, Emanuela, Shinawi, Marwan, Gómez-Puertas, Paulino, Tümer, Zeynep, Hennekam, Raoul C.
Publicado 2020