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Items: 4

Select item 58465491.

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity

E. Piano Mortari, V. Folgiero, V. Marcellini, P. Romania, E. Bellacchio, V. D'Alicandro, C. Bocci, R. Carrozzo, D. Martinelli, S. Petrini, E. Axiotis, C. Farroni, F. Locatelli, U. Schara, D.T. Pilz, H. Jungbluth, C. Dionisi-Vici, R. Carsetti

Autophagy. 2018; 14(1): 22–37. Published online 2018 Jan 2. doi: 10.1080/15548627.2017.1389356

PMCID:: PMC5846549

Abstract Article PDF–1.7M

Select item 40128422.

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Thomas Cullup, Ay L. Kho, Carlo Dionisi-Vici, Birgit Brandmeier, Frances Smith, Zoe Urry, Michael A. Simpson, Shu Yau, Enrico Bertini, Verity McClelland, Mohammed Al-Owain, Stefan Koelker, Christian Koerner, Georg F. Hoffmann, Frits A. Wijburg, Amber E. ten Hoedt, Curtis Rogers, David Manchester, Rie Miyata, Masaharu Hayashi, Elizabeth Said, Doriette Soler, Peter M. Kroisel, Christian Windpassinger, Francis M. Filloux, Salwa Al-Kaabi, Jozef Hertecant, Miguel Del Campo, Stefan Buk, Istvan Bodi, Hans-Hilmar Goebel, Caroline A. Sewry, Stephen Abbs, Shehla Mohammed, Dragana Josifova, Mathias Gautel, Heinz Jungbluth

Nat Genet. Author manuscript; available in PMC 2014 May 7.

Published in final edited form as: Nat Genet. 2013 Jan; 45(1): 83–87. Published online 2012 Dec 9. doi: 10.1038/ng.2497