CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Author:

Jansen Jos C.,Cirak Sebahattin,van Scherpenzeel Monique,Timal Sharita,Reunert Janine,Rust Stephan,Pérez Belén,Vicogne Dorothée,Krawitz Peter,Wada Yoshinao,Ashikov Angel,Pérez-Cerdá Celia,Medrano Celia,Arnoldy Andrea,Hoischen Alexander,Huijben Karin,Steenbergen Gerry,Quelhas Dulce,Diogo Luisa,Rymen Daisy,Jaeken Jaak,Guffon Nathalie,Cheillan David,van den Heuvel Lambertus P.,Maeda Yusuke,Kaiser Olaf,Schara Ulrike,Gerner Patrick,van den Boogert Marjolein A.W.,Holleboom Adriaan G.,Nassogne Marie-Cécile,Sokal Etienne,Salomon Jody,van den Bogaart Geert,Drenth Joost P.H.,Huynen Martijn A.,Veltman Joris A.,Wevers Ron A.,Morava Eva,Matthijs Gert,Foulquier François,Marquardt Thorsten,Lefeber Dirk J.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference48 articles.

1. Solving glycosylation disorders: fundamental approaches reveal complicated pathways;Freeze;Am. J. Hum. Genet.,2014

2. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation;Ng;Am. J. Hum. Genet.,2013

3. B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement;Guillard;J pediatr.,2011

4. Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development;Tan;Am. J. Hum. Genet.,1996

5. Re’COG’nition at the Golgi;Miller;Traffic,2012

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