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Page 1
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.
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. Rujano MA, et al. Among authors: cannata serio m. J Exp Med. 2017 Dec 4;214(12):3707-3729. doi: 10.1084/jem.20170453. Epub 2017 Nov 10. J Exp Med. 2017. PMID: 29127204 Free PMC article.
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
Cannata Serio M, Graham LA, Ashikov A, Larsen LE, Raymond K, Timal S, Le Meur G, Ryan M, Czarnowska E, Jansen JC, He M, Ficicioglu C, Pichurin P, Hasadsri L, Minassian B, Rugierri A, Kalimo H, Ríos-Ocampo WA, Gilissen C, Rodenburg R, Jonker JW, Holleboom AG, Morava E, Veltman JA, Socha P, Stevens TH, Simons M, Lefeber DJ. Cannata Serio M, et al. Hepatology. 2020 Dec;72(6):1968-1986. doi: 10.1002/hep.31218. Hepatology. 2020. PMID: 32145091 Free PMC article.
Myosin 1b regulates intestinal epithelial morphogenesis via interaction with UNC45A.
Revenu C, Lebreton C, Cannata Serio M, Rosello M, Duclaux-Loras R, Duroure K, Nicolle O, Eggeler F, Prospéri MT, Stoufflet J, Vougny J, Lépine P, Michaux G, Cerf-Bensussan N, Coudrier E, Perez F, Parlato M, Del Bene F. Revenu C, et al. Among authors: cannata serio m. Cell Rep. 2024 Dec 24;43(12):114941. doi: 10.1016/j.celrep.2024.114941. Epub 2024 Dec 4. Cell Rep. 2024. PMID: 39636728 Free article.