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

Kornak, Uwe; Reynders, Ellen; Dimopoulou, Aikaterini; van Reeuwijk, Jeroen; Fischer, Bjoern; Rajab, Anna; Budde, Birgit; Nürnberg, Peter; Foulquier, Francois; Lefeber, Dirk; Urban, Zsolt; Gruenewald, Stephanie; Annaert, Wim; Brunner, Han G; van Bokhoven, Hans; Wevers, Ron; Morava, Eva; Matthijs, Gert; Van Maldergem, Lionel; Mundlos, Stefan; The ARCL Debré-type Study Group

doi:10.1038/ng.2007.45

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

Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., et al. (2008). Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nature Genetics, 40(1), 32-34. doi:10.1038/ng.2007.45.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-80BD-3 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-80BE-1

Genre: Journal Article

Alternative Title : Nat Genet

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Creators:
Kornak, Uwe¹, Author
Reynders, Ellen, Author
Dimopoulou, Aikaterini², Author
van Reeuwijk, Jeroen, Author
Fischer, Bjoern, Author
Rajab, Anna, Author
Budde, Birgit, Author
Nürnberg, Peter, Author
Foulquier, Francois, Author
Lefeber, Dirk, Author
Urban, Zsolt, Author
Gruenewald, Stephanie, Author
Annaert, Wim, Author
Brunner, Han G, Author
van Bokhoven, Hans, Author
Wevers, Ron, Author
Morava, Eva, Author
Matthijs, Gert, Author
Van Maldergem, Lionel, Author
Mundlos, Stefan¹, Author
The ARCL Debré-type Study Group, Editor more..

Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557
2Max Planck Society, ou_persistent13

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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.

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Language(s): eng - English

Dates: Date issued: 2008-01

Publication Status: Issued

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Identifiers: eDoc: 411701
URI: http://www.nature.com/ng/journal/v40/n1/pdf/ng.2007.45.pdf
DOI: 10.1038/ng.2007.45

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Title: Nature Genetics

Alternative Title : Nat Genet

Source Genre: Journal

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Pages: - Volume / Issue: 40 (1) Sequence Number: - Start / End Page: 32 - 34 Identifier: ISSN: 1061-4036