| Literature DB >> 18157129 |
Uwe Kornak1, Ellen Reynders, Aikaterini Dimopoulou, Jeroen van Reeuwijk, Bjoern Fischer, Anna Rajab, Birgit Budde, Peter Nürnberg, Francois Foulquier, Dirk Lefeber, Zsolt Urban, Stephanie Gruenewald, Wim Annaert, Han G Brunner, Hans van Bokhoven, Ron Wevers, Eva Morava, Gert Matthijs, Lionel Van Maldergem, Stefan Mundlos.
Abstract
We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin syndrome. The mutations result in abnormal glycosylation of serum proteins (CDG-II) and cause an impairment of Golgi trafficking in fibroblasts from affected individuals. These results indicate that the a2 subunit of the proton pump has an important role in Golgi function.Entities:
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Year: 2007 PMID： 18157129 DOI： 10.1038/ng.2007.45
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330