Article
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
Human mutation - 1 Feb 2017
Matalonga Leslie, Bravo Miren, Serra-Peinado Carla, García-Pelegrí Elisabeth, Ugarteburu Olatz, Vidal Silvia, Llambrich Maria, Quintana Ester, Fuster-Jorge Pedro, Gonzalez-Bravo Maria Nieves, Beltran Sergi, Dopazo Joaquin, Garcia-Garcia Francisco, Foulquier François, Matthijs Gert, Mills Philippa, Ribes Antonia, Egea Gustavo, Briones Paz, Tort Frederic, Girós Marisa
Abstract excerpt
Congenital disorders of glycosylation (CDG) are a heterogeneous and rapidly growing group of diseases caused by abnormal glycosylation of proteins and/or lipids. Mutations in genes involved in the homeostasis of the endoplasmic reticulum (ER), the Golgi apparatus (GA), and the vesicular trafficking from the ER to the ER-Golgi intermediate compartment (ERGIC) have been found to be associated with CDG. Here, we...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.