More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones

por Arnedo, María, Latorre-Pellicer, Ana, Lucia-Campos, Cristina, Gil-Salvador, Marta, Antoñanzas-Peréz, Rebeca, Gómez-Puertas, Paulino, Bueno-Lozano, Gloria, Puisac, Beatriz, Pié, Juan
Publicado 2019

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

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria

por Puisac, Beatriz, Arnedo, María, Casale, Cesar H., Ribate, María Pilar, Castiella, Tomás, Ramos, Feliciano J., Ribes, Antonia, Pérez-Cerdá, Celia, Casals, Nuria, Hegardt, Fausto G., Pié, Juan
Publicado 2010

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

por Wierzba, Jolanta, Gil-Rodríguez, María Concepción, Polucha, Anna, Puisac, Beatriz, Arnedo, María, Teresa-Rodrigo, María Esperanza, Winnicka, Dorota, Hegardt, Fausto G, Ramos, Feliciano J, Limon, Janusz, Pié, Juan
Publicado 2012

Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder

por Latorre-Pellicer, Ana, Trujillano, Laura, del Rincón, Julia, Peña-Marco, Mónica, Gil-Salvador, Marta, Lucia-Campos, Cristina, Arnedo, María, Puisac, Beatriz, Ramos, Feliciano J., Ayerza-Casas, Ariadna, Pié, Juan
Publicado 2023

Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol

por Arnedo, María, Menao, Sebastián, Puisac, Beatriz, Teresa-Rodrigo, María E., Gil-Rodríguez, María C., López-Viñas, Eduardo, Gómez-Puertas, Paulino, Casals, Nuria, Casale, César H., Hegardt, Fausto G., Pié, Juan
Publicado 2012

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

Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches

por Arnedo, María, Ascaso, Ángela, Latorre-Pellicer, Ana, Lucia-Campos, Cristina, Gil-Salvador, Marta, Ayerza-Casas, Ariadna, Pablo, María Jesús, Gómez-Puertas, Paulino, Ramos, Feliciano J., Bueno-Lozano, Gloria, Pié, Juan, Puisac, Beatriz
Publicado 2022

Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome

por Gil-Salvador, Marta, Latorre-Pellicer, Ana, Lucia-Campos, Cristina, Arnedo, María, Darnaude, María Teresa, Díaz de Bustamante, Aránzazu, Villares, Rebeca, Palma Milla, Carmen, Puisac, Beatriz, Musio, Antonio, Ramos, Feliciano J., Pié, Juan
Publicado 2022

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lan...

por Puisac, Beatriz, Teresa-Rodrigo, María-Esperanza, Hernández-Marcos, María, Baquero-Montoya, Carolina, Gil-Rodríguez, María-Concepción, Visnes, Torkild, Bot, Christopher, Gómez-Puertas, Paulino, Kaiser, Frank J., Ramos, Feliciano J., Ström, Lena, Pié, Juan
Publicado 2017

Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome

por Trujillano, Laura, Ayerza-Casas, Ariadna, Puisac, Beatriz, García, Gonzalo González, Ascaso, Ángela, Latorre-Pellicer, Ana, Arnedo, María, Lucia-Campos, Cristina, Gil-Salvador, Marta, Kaiser, Frank J., Ramos, Feliciano J., Pié, Juan, Bueno-Lozano, Gloria
Publicado 2022

Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome

por Garcia, Patricia, Fernandez-Hernandez, Rita, Cuadrado, Ana, Coca, Ignacio, Gomez, Antonio, Maqueda, Maria, Latorre-Pellicer, Ana, Puisac, Beatriz, Ramos, Feliciano J., Sandoval, Juan, Esteller, Manel, Mosquera, Jose Luis, Rodriguez, Jairo, Pié, J., Losada, Ana, Queralt, Ethel
Publicado 2021

A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome

por Lucia-Campos, Cristina, Valenzuela, Irene, Latorre-Pellicer, Ana, Ros-Pardo, David, Gil-Salvador, Marta, Arnedo, María, Puisac, Beatriz, Castells, Neus, Plaja, Alberto, Tenes, Anna, Cuscó, Ivon, Trujillano, Laura, Ramos, Feliciano J., Tizzano, Eduardo F., Gómez-Puertas, Paulino, Pié, Juan
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

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

por Teresa-Rodrigo, María E., Eckhold, Juliane, Puisac, Beatriz, Pozojevic, Jelena, Parenti, Ilaria, Baquero-Montoya, Carolina, Gil-Rodríguez, María C., Braunholz, Diana, Dalski, Andreas, Hernández-Marcos, María, Ayerza, Ariadna, Bernal, María L., Ramos, Feliciano J., Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Pié, Juan, Kaiser, Frank J.
Publicado 2016

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice

por Bagheri-Fam, Stefan, Chen, Huijun, Wilson, Sean, Ayers, Katie, Hughes, James, Sloan-Bena, Frederique, Calvel, Pierre, Robevska, Gorjana, Puisac, Beatriz, Kusz-Zamelczyk, Kamila, Gimelli, Stefania, Spik, Anna, Jaruzelska, Jadwiga, Warenik-Szymankiewicz, Alina, Faradz, Sultana, Nef, Serge, Pié, Juan, Thomas, Paul, Sinclair, Andrew, Wilhelm, Dagmar
Publicado 2020

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

por Enervald, Elin, Du, Likun, Visnes, Torkild, Björkman, Andrea, Lindgren, Emma, Wincent, Josephine, Borck, Guntram, Colleaux, Laurence, Cormier-Daire, Valerie, van Gent, Dik C., Pie, Juan, Puisac, Beatriz, de Miranda, Noel FCC, Kracker, Sven, Hammarström, Lennart, de Villartay, Jean-Pierre, Durandy, Anne, Schoumans, Jacqueline, Ström, Lena, Pan-Hammarström, Qiang
Publicado 2013

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

por Teresa-Rodrigo, María E., Eckhold, Juliane, Puisac, Beatriz, Dalski, Andreas, Gil-Rodríguez, María C., Braunholz, Diana, Baquero, Carolina, Hernández-Marcos, María, de Karam, Juan C., Ciero, Milagros, Santos-Simarro, Fernando, Lapunzina, Pablo, Wierzba, Jolanta, Casale, César H., Ramos, Feliciano J., Gillessen-Kaesbach, Gabriele, Kaiser, Frank J., Pié, Juan
Publicado 2014

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