Substitution p.A350V in Na⁺/Mg²⁺ exchanger SLC41A1, potentially associated with Parkinson's disease, is a gain-of-function mutation.

por Martin Kolisek, Gerhard Sponder, Lucia Mastrototaro, Alina Smorodchenko, Pierre Launay, Juergen Vormann, Monika Schweigel-Röntgen
Publicado 2013

Dynamic changes of muscle insulin sensitivity after metabolic surgery

por Sofiya Gancheva, Meriem Ouni, Tomas Jelenik, Chrysi Koliaki, Julia Szendroedi, Frederico G. S. Toledo, Daniel F. Markgraf, Dominik H. Pesta, Lucia Mastrototaro, Elisabetta De Filippo, Christian Herder, Markus Jähnert, Jürgen Weiss, Klaus Strassburger, Matthias Schlensak, Annette Schürmann, Michael Roden
Publicado 2019