Diversity of mechanisms to control bacterial GTP homeostasis by the mutually exclusive binding of adenine and guanine nucleotides to IMP dehydrogenase
Fernández‐Justel, David, Marcos‐Alcalde, Íñigo, Abascal, Federico, Vidaña, Nerea, Gómez‐Puertas, Paulino, Jiménez, Alberto, Revuelta, José L., Buey, Rubén M.
Published in Protein science (01.05.2022)
Published in Protein science (01.05.2022)
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Journal Article
STAG2: Computational Analysis of Missense Variants Involved in Disease
Ros-Pardo, David, Gómez-Puertas, Paulino, Marcos-Alcalde, Íñigo
Published in International journal of molecular sciences (01.01.2024)
Published in International journal of molecular sciences (01.01.2024)
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Journal Article
MEPSA: minimum energy pathway analysis for energy landscapes
Marcos-Alcalde, Iñigo, Setoain, Javier, Mendieta-Moreno, Jesús I, Mendieta, Jesús, Gómez-Puertas, Paulino
Published in Bioinformatics (Oxford, England) (01.12.2015)
Published in Bioinformatics (Oxford, England) (01.12.2015)
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Journal Article
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
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
Published in Scientific reports (29.07.2021)
Published in Scientific reports (29.07.2021)
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Journal Article
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
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
Published in International journal of molecular sciences (04.02.2020)
Published in International journal of molecular sciences (04.02.2020)
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Journal Article
A nucleotide-controlled conformational switch modulates the activity of eukaryotic IMP dehydrogenases
Buey, Rubén M, Fernández-Justel, David, Marcos-Alcalde, Íñigo, Winter, Graeme, Gómez-Puertas, Paulino, de Pereda, José María, Luis Revuelta, José
Published in Scientific reports (01.06.2017)
Published in Scientific reports (01.06.2017)
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Journal Article
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
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.
Published in Human genetics (01.05.2020)
Published in Human genetics (01.05.2020)
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Journal Article
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants
Furia, Francesca, Levy, Amanda M., Theunis, Miel, Bamshad, Michael J., Bartos, Meghan N., Bijlsma, Emilia K., Brancati, Francesco, Cejudo, Lucile, Chong, Jessica X., De Luca, Chiara, Dean, Sarah Joy, Egense, Alena, Goel, Himanshu, Guenzel, Adam J., Hüffmeier, Ulrike, Legius, Eric, Mancini, Grazia M. S., Marcos‐Alcalde, Iñigo, Niclass, Tanguy, Planes, Marc, Redon, Sylvia, Ros‐Pardo, David, Rouault, Karen, Schot, Rachel, Schuhmann, Sarah, Shen, Joseph J., Tao, Alice M., Thiffault, Isabelle, Van Esch, Hilde, Wentzensen, Ingrid M., Barakat, Tahsin Stefan, Møller, Rikke S., Gomez‐Puertas, Paulino, Chung, Wendy K., Gardella, Elena, Tümer, Zeynep
Published in Clinical genetics (11.07.2024)
Published in Clinical genetics (11.07.2024)
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Journal Article
Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome
Lazo, Pedro A, García, Juan L, Gómez-Puertas, Paulino, Marcos-Alcalde, Íñigo, Arjona, Cesar, Villarroel, Alvaro, González-Sarmiento, Rogelio, Fons, Carmen
Published in International journal of molecular sciences (23.06.2020)
Published in International journal of molecular sciences (23.06.2020)
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Journal Article
Computational Modeling and Design of New Inhibitors of Carbapenemases: A Discussion from the EPIC Alliance Network
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
Published in International journal of molecular sciences (01.09.2022)
Published in International journal of molecular sciences (01.09.2022)
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Journal Article
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients
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
Published in International journal of molecular sciences (28.03.2018)
Published in International journal of molecular sciences (28.03.2018)
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Journal Article
Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
García-Hernández, Juan L, Corchete, Luis A, Marcos-Alcalde, Íñigo, Gómez-Puertas, Paulino, Fons, Carmen, Lazo, Pedro A
Published in Human genomics (08.02.2021)
Published in Human genomics (08.02.2021)
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Journal Article
Two-step ATP-driven opening of cohesin head
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
Published in Scientific reports (12.06.2017)
Published in Scientific reports (12.06.2017)
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Journal Article
Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11
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
Published in Molecular genetics & genomic medicine (01.11.2021)
Published in Molecular genetics & genomic medicine (01.11.2021)
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Journal Article
VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy
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.
Published in Annals of clinical and translational neurology (01.05.2020)
Published in Annals of clinical and translational neurology (01.05.2020)
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Journal Article
Simulation of Catalytic Water Activation in Mitochondrial F1‑ATPase Using a Hybrid Quantum Mechanics/Molecular Mechanics Approach: An Alternative Role for β‑Glu 188
Martín-García, Fernando, Mendieta-Moreno, Jesús I, Marcos-Alcalde, Íñigo, Gómez-Puertas, Paulino, Mendieta, Jesús
Published in Biochemistry (Easton) (05.02.2013)
Published in Biochemistry (Easton) (05.02.2013)
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Journal Article
MEPSAnd: minimum energy path surface analysis over n-dimensional surfaces
Marcos-Alcalde, Iñigo, López-Viñas, Eduardo, Gómez-Puertas, Paulino
Published in Bioinformatics (01.02.2020)
Published in Bioinformatics (01.02.2020)
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Journal Article
Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy
Campos-Díaz, Aurora, Morejón-García, Patricia, Monte-Serrano, Eva, Ros-Pardo, David, Marcos-Alcalde, Iñigo, Gómez-Puertas, Paulino, Lazo, Pedro A.
Published in Journal of molecular medicine (Berlin, Germany) (01.06.2024)
Published in Journal of molecular medicine (Berlin, Germany) (01.06.2024)
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Journal Article
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature
Gudmundsson, Sanna, Annerén, Göran, Marcos-Alcalde, Íñigo, Wilbe, Maria, Melin, Malin, Gómez-Puertas, Paulino, Bondeson, Marie-Louise
Published in European journal of medical genetics (01.06.2019)
Published in European journal of medical genetics (01.06.2019)
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Journal Article