RMND5 from Xenopus laevis Is an E3 Ubiquitin-Ligase and Functions in Early Embryonic Forebrain Development

por Pfirrmann, Thorsten, Villavicencio-Lorini, Pablo, Subudhi, Abinash K., Menssen, Ruth, Wolf, Dieter H., Hollemann, Thomas
Publicado 2015

Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management

por Grünert, Sarah C, Villavicencio-Lorini, Pablo, Wermuth, Bendicht, Lehnert, Willy, Sass, Jörn Oliver, Schwab, K Otfried
Publicado 2013

Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids

por Kraya, Torsten, Quandt, Dagmar, Pfirrmann, Thorsten, Kindermann, Andrea, Lampe, Leonie, Schroeter, Matthias L., Kohlhase, Jürgen, Stoevesandt, Dietrich, Hoffmann, Katrin, Villavicencio‐Lorini, Pablo
Publicado 2019

The GID ubiquitin ligase complex is a regulator of AMPK activity and organismal lifespan

por Liu, Huaize, Ding, Jie, Köhnlein, Karl, Urban, Nadine, Ori, Alessandro, Villavicencio-Lorini, Pablo, Walentek, Peter, Klotz, Lars-Oliver, Hollemann, Thomas, Pfirrmann, Thorsten
Publicado 2019

Cilia-localized GID/CTLH ubiquitin ligase complex regulates protein homeostasis of sonic hedgehog signaling components

por Hantel, Friederike, Liu, Huaize, Fechtner, Lisa, Neuhaus, Herbert, Ding, Jie, Arlt, Danilo, Walentek, Peter, Villavicencio-Lorini, Pablo, Gerhardt, Christoph, Hollemann, Thomas, Pfirrmann, Thorsten
Publicado 2022

Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits

por Horn, Denise, Kapeller, Johannes, Rivera-Brugués, Núria, Moog, Ute, Lorenz-Depiereux, Bettina, Eck, Sebastian, Hempel, Maja, Wagenstaller, Janine, Gawthrope, Alex, Monaco, Anthony P, Bonin, Michael, Riess, Olaf, Wohlleber, Eva, Illig, Thomas, Bezzina, Connie R, Franke, Andre, Spranger, Stephanie, Villavicencio-Lorini, Pablo, Seifert, Wenke, Rosenfeld, Jochen, Klopocki, Eva, Rappold, Gudrun A, Strom, Tim M
Publicado 2010