Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Uwe Kornak*, Ellen Reynders, Aikaterini Dimopoulou, Jeroen Van Reeuwijk, Bjoern Fischer, Anna Rajab, Birgit Budde, Peter Nürnberg, Francois Foulquier, William B. Dobyns, Dulce Quelhas, Laura Vilarinho, Elisa Leao-Teles, Marie Greally, Eva Seemanova, Martina Simandlova, Mustafa Salih, Arti Nanda, Lina Basel-Vanagaite, Hulya KayseriliMemmune Yuksel-Apak, Marc Larregue, Jacqueline Vigneron, Sanda Giurgea, 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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)32-34
Number of pages3
JournalNature Genetics
Volume40
Issue number1
DOIs
StatePublished - Jan 2008
Externally publishedYes

Funding

FundersFunder number
Sixth Framework program of the European UnionLSHM-2005-512131
Deutsche Forschungsgemeinschaft
Bundesministerium für Bildung und Forschung01GM0623
Fonds Wetenschappelijk OnderzoekG.0173.04, G.0504.06
Vlaams Instituut voor Biotechnologie

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