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

ανά 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
Έκδοση 2018-03-01

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

ανά María E. Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, Jelena Pozojevic, Ilaria Parenti, Carolina Baquero-Montoya, María C. Gil-Rodríguez, Diana Braunholz, Andreas Dalski, María Hernández-Marcos, Ariadna Ayerza, María L. Bernal, Feliciano J. Ramos, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Juan Pié, Frank J. Kaiser
Έκδοση 2016-01-01

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

ανά Ilaria Parenti, Farah Diab, Sara Ruiz Gil, Eskeatnaf Mulugeta, Valentina Casa, Riccardo Berutti, Rutger W.W. Brouwer, Valerie Dupé, Juliane Eckhold, Elisabeth Graf, Beatriz Puisac, Feliciano Ramos, Thomas Schwarzmayr, Macarena Moronta Gines, Thomas van Staveren, Wilfred F.J. van IJcken, Tim M. Strom, Juan Pié, Erwan Watrin, Frank J. Kaiser, Kerstin S. Wendt
Έκδοση 2020-05-01