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

Author List
Rujano MA, Cannata Serio M, Panasyuk G, Péanne R, Reunert J, Rymen D, Hauser V, Park JH, Freisinger P, Souche E, Guida MC, Maier EM, Wada Y, Jäger S, Krogan NJ, Kretz O, Nobre S, Garcia P, Quelhas D, Bird TD, Raskind WH, Schwake M, Duvet S, Foulquier F, Matthijs G, Marquardt T, Simons M
Publication
The Journal of experimental medicine
Publication ID (Profile URL)
https://researcherprofiles.org/profile/1216027
Publication Year
2017
PubMed ID
29127204
Publication Title
Rujano MA, Cannata Serio M, Panasyuk G, Péanne R, Reunert J, Rymen D, Hauser V, Park JH, Freisinger P, Souche E, Guida MC, Maier EM, Wada Y, Jäger S, Krogan NJ, Kretz O, Nobre S, Garcia P, Quelhas D, Bird TD, Raskind WH, Schwake M, Duvet S, Foulquier F, Matthijs G, Marquardt T, Simons M. Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects. J Exp Med. 2017 Dec 04; 214(12):3707-3729.