Mutations in ATP6AP2 cause autophagic liver disease in humans

מאת Cannata Serio, Magda, Rujano, Maria A., Simons, Matias
הוצא לאור ב Autophagy (2018)

Polarised Asymmetric Inheritance of Accumulated Protein Damage in Higher Eukaryotes

מאת Rujano, María A, Bosveld, Floris, Salomons, Florian A, Dijk, Freark, van Waarde, Maria A.W.H, van der Want, Johannes J.L, de Vos, Rob A.I, Brunt, Ewout R, Sibon, Ody C.M, Kampinga, Harm H
יצא לאור 2006

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

מאת Rujano, Maria A., Cannata Serio, Magda, Panasyuk, Ganna, Péanne, Romain, Reunert, Janine, Rymen, Daisy, Hauser, Virginie, Park, Julien H., Freisinger, Peter, Souche, Erika, Guida, Maria Clara, Maier, Esther M., Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan J., Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas D., Raskind, Wendy H., Schwake, Michael, Duvet, Sandrine, Foulquier, Francois, Matthijs, Gert, Marquardt, Thorsten, Simons, Matias
הוצא לאור ב J Exp Med (2017)