Paulino Gómez-Puertas (Paulino Gomez-Puertas)

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 21

Top Topics

Autism Spectrum Disorder

Histone Deacetylase

Dna Damage Response

Trypanosoma Cruzi

Top Venues

International journal of molecular sciences

Journal of molecular medicine (Berlin, Germany)

This page only lists publications with an associated author ORCID identifier.

Publications

Aurora Campos-Díaz, Patricia Morejon-Garcia, Eva Monte-Serrano, David Ros-Pardo, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Pedro A Lazo
Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy. Journal of molecular medicine (Berlin, Germany) 102 (6) (2024)
Aurora Campos-Díaz, Patricia Morejon-Garcia, Eva Monte-Serrano, David Ros-Pardo, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Pedro A Lazo
Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy. Journal of molecular medicine (Berlin, Germany) 102 (6) (2024)
David Ros-Pardo, Paulino Gómez-Puertas, Íñigo Marcos-Alcalde
STAG2: Computational Analysis of Missense Variants Involved in Disease. International journal of molecular sciences 25 (2) (2024)
Aurora Campos-Díaz, Patricia Morejon-Garcia, Eva Monte-Serrano, David Ros-Pardo, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Pedro A Lazo
Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy. Journal of molecular medicine (Berlin, Germany) 102 (6) (2024)
Aurora Campos-Díaz, Patricia Morejon-Garcia, Eva Monte-Serrano, David Ros-Pardo, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Pedro A Lazo
Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy. Journal of molecular medicine (Berlin, Germany) 102 (6) (2024)
David Ros-Pardo, Paulino Gómez-Puertas, Íñigo Marcos-Alcalde
STAG2: Computational Analysis of Missense Variants Involved in Disease. International journal of molecular sciences 25 (2) (2024)
Aurora Campos-Díaz, Patricia Morejon-Garcia, Eva Monte-Serrano, David Ros-Pardo, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Pedro A Lazo
Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy. Journal of molecular medicine (Berlin, Germany) (2024)
David Ros-Pardo, Paulino Gómez-Puertas, Íñigo Marcos-Alcalde
STAG2: Computational Analysis of Missense Variants Involved in Disease. International journal of molecular sciences 25 (2) (2024)
Maria Bejerholm Christensen, Amanda M Levy, Nazanin A Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoit, Kailash P Bhatia, Tatjana Bierhals, Christian Malte Boßelmann, Julien Buratti, Bert Callewaert, Berten Ceulemans, Perrine Charles, Matthias De Wachter, Mohammadreza Dehghani, Erika D'haenens, Martine Doco-Fenzy, Michaela Geßner, Cyrielle Gobert, Ulviyya Guliyeva, Tobias B Haack, Trine B Hammer, Tilman Heinrich, Maja Hempel, Theresia Herget, Ute Hoffmann, Judit Horvath, Henry Houlden, Boris Keren, Christina Kresge, Candy Kumps, Damien Lederer, Alban Lermine, Francesca Magrinelli, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Mahdiyeh Moudi, Amelie J Müller, Anna J Oostra, Beth A Pletcher, David Ros-Pardo, Shanika R Samarasekera, Tartaglia Marco, Kristof Van Schil, Julie Vogt, Evangeline Wassmer, Juliane Winkelmann, Maha Saad Zaki, Michael Zech, Holger Lerche, Francesca Clementina Radio, Paulino Gómez-Puertas, Rikke Steensjerre Moller, Zeynep Tümer
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clinical genetics 102 (2) (2022)
Amanda M Levy, Paulino Gómez-Puertas, Zeynep Tümer
Neurodevelopmental Disorders Associated with PSD-95 and Its Interaction Partners. International journal of molecular sciences 23 (8) (2022)
María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer, Cristina Lucia-Campos, Marta Gil-Salvador, Ariadna Ayerza-Casas, María Jesús Pablo, Paulino Gómez-Puertas, Feliciano J Ramos, Gloria Bueno, Juan Pié, Beatriz Puisac
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches. International journal of molecular sciences 23 (17) (2022)
Cristina Lucia-Campos, Irene Valenzuela, Ana Latorre-Pellicer, David Ros-Pardo, Marta Gil-Salvador, María Arnedo, Beatriz Puisac, Neus Castells, Alberto Plaja, Anna Tenes, Ivon Cuscó, Laura Trujillano, Feliciano J Ramos, Eduardo F Tizzano, Paulino Gómez-Puertas, Juan Pié
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome. Genes 13 (8) (2022)
Elias Dahdouh, Lisa Allander, Linda Falgenhauer, Bogdan I Iorga, Stefano Lorenzetti, Íñigo Marcos-Alcalde, Nathaniel I Martin, Luis Martínez-Martínez, Jesús Mingorance, Thierry Naas, Joseph E Rubin, Francesca Spyrakis, Thomas Tängdén, Paulino Gómez-Puertas
Computational Modeling and Design of New Inhibitors of Carbapenemases: A Discussion from the EPIC Alliance Network. International journal of molecular sciences 23 (17) (2022)
Juan Luis García Hernández, Luis-Antonio Corchete, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Carmen Fons, Pedro A Lazo
Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome. Human genomics 15 (1) (2021)
Patricia Morejon-Garcia, Boris Keren, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Fanny Mochel, Pedro A Lazo
Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia. Neurology. Genetics 7 (5) (2021)
Pedro A Lazo, Juan Luis García Hernández, Paulino Gómez-Puertas, Íñigo Marcos-Alcalde, Cesar Arjona, Alvaro Villarroel, Rogelio González Sarmiento, Carmen Fons
Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome. International journal of molecular sciences 21 (12) (2020)
Lianne C Krab, Íñigo Marcos-Alcalde, Melissa Assaf, Meena Balasubramanian, Janne Bayer Andersen, Anne-Marie Bisgaard, David R Fitzpatrick, Sanna Gudmundsson, Sylvia A Huisman, Tugba Kalayci, Saskia M Maas, Francisco Martinez Castellano, Margo Whiteford, Leonie A Menke, Paul A Mulder, Oliver D Murch, Michael Parker, Juan Pie, Feliciano J Ramos, Claudine Rieubland, Jill Anne Rosenfeld, Emanuela Scarano, Marwan S Shinawi, Paulino Gómez-Puertas, Zeynep Tümer, Raoul C M Hennekam
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. Human genetics 139 (5) (2020)
Ana T Marcos, Elena Martín-Doncel, Patricia Morejon-Garcia, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, María Segura-Puimedon, Lluis Armengol, José M Navarro-Pando, Pedro A Lazo
VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy. Annals of clinical and translational neurology 7 (5) (2020)
Elizabeth Ruiz-Márvez, César Augusto Ramírez, Eliana Rocío Rodríguez, Magda Mellisa Flórez, Gabriela Delgado, Fanny Gúzman, Paulino Gómez-Puertas, José María Requena, Concepción J Puerta
Molecular Characterization of Tc964, A Novel Antigenic Protein from Trypanosoma cruzi. International journal of molecular sciences 21 (7) (2020)
María Arnedo, Ana Latorre-Pellicer, Cristina Lucia-Campos, Marta Gil-Salvador, Rebeca Antoñanzas-Peréz, Paulino Gómez-Puertas, Gloria Bueno-Lozano, Beatriz Puisac, Juan Pié
More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones. International journal of molecular sciences 20 (24) (2019)
Beatriz Puisac, Iñigo Marcos-Alcalde, María Hernández-Marcos, Pilar Tobajas Morlana, Alina Levtova, Bernd C Schwahn, Corinne DeLaet, Baiba Lace, Paulino Gómez-Puertas, Juan Pié
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients. International journal of molecular sciences 19 (4) (2018)