Article
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
American journal of human genetics - 4 Feb 2016
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
Abstract excerpt
Disorders of Golgi homeostasis form an emerging group of genetic defects. The highly heterogeneous clinical spectrum is not explained by our current understanding of the underlying cell-biological processes in the Golgi. Therefore, uncovering genetic defects and annotating gene function are challenging. Exome sequencing in a family with three siblings affected by abnormal Golgi glycosylation revealed a homozygous...
Topics
- Amino Acid Sequence
- Child
- Child, Preschool
- Cloning, Molecular
- Endoplasmic Reticulum
- Exome