Matalonga, L;
Bravo, M;
Serra-Peinado, C;
García-Pelegrí, E;
Ugarteburu, O;
Vidal, S;
Llambrich, M;
... Girós, M; + view all
(2017)
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
Human Mutation
, 38
(2)
pp. 148-151.
10.1002/humu.23145.
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Abstract
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 report a patient with defects in both N- and O-glycosylation combined with a delayed vesicular transport in the GA due to mutations in TRAPPC11, a subunit of the TRAPPIII complex. TRAPPIII is implicated in the anterograde transport from the ER to the ERGIC as well as in the vesicle export from the GA. This report expands the spectrum of genetic alterations associated with CDG, providing new insights for the diagnosis and the understanding of the physiopathological mechanisms underlying glycosylation disorders.
| Type: | Article |
|---|---|
| Title: | Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/humu.23145 |
| Publisher version: | http://dx.doi.org/10.1002/humu.23145 |
| Language: | English |
| Additional information: | This is the peer reviewed version of the following article: Matalonga, L., Bravo, M., Serra-Peinado, C., García-Pelegrí, E., Ugarteburu, O., Vidal, S., Llambrich, M., Quintana, E., Fuster-Jorge, P., Gonzalez-Bravo, M. N., Beltran, S., Dopazo, J., Garcia-Garcia, F., Foulquier, F., Matthijs, G., Mills, P., Ribes, A., Egea, G., Briones, P., Tort, F. and Girós, M. (2017), Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Human Mutation, 38: 148–151., which has been published in final form at http://dx.doi.org/10.1002/humu.23145. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving. |
| Keywords: | CDG, Golgi, TRAPPC11, endoplasmic reticulum, vesicle trafficking |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1529641 |
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