Article
Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.
Glycobiology - 1 Jun 2015
Bammens Riet, Mehta Nickita, Race Valérie, Foulquier François, Jaeken Jaak, Tiemeyer Michael, Steet Richard, Matthijs Gert, Flanagan-Steet Heather
Abstract excerpt
The congenital disorders of glycosylation (CDG), a group of inherited diseases characterized by aberrant glycosylation, encompass a wide range of defects, including glycosyltransferases, glycosidases, nucleotide-sugar transporters as well as proteins involved in maintaining Golgi architecture, pH and vesicular trafficking. Mutations in a previously undescribed protein, TMEM165, were recently shown to cause a new...
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