Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
In: Nature Genetics, 40, 1, pp. 32-4, 2008, S. 32-4
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Contains fulltext : 69837.pdf (Publisher’s version ) (Closed access) ; 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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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
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| Autor/in / Beteiligte Person: | Kornak, U. ; Reynders, E. ; Dimopoulou, A. ; Reeuwijk, J. van ; Fischer, B. ; Rajab, A. ; Budde, B. ; Nurnberg, P. ; Foulquier, F. ; Lefeber, D.J. ; Urban, Z. ; Gruenewald, S. ; Annaert, W. ; Brunner, H.G. ; Bokhoven, H. van ; Wevers, R.A. ; Morava, E. ; Matthijs, G. ; Maldergem, L. van ; Mundlos, S. |
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| Zeitschrift: | Nature Genetics, 40, 1, pp. 32-4, 2008, S. 32-4 |
| Veröffentlichung: | 2008 |
| Medientyp: | academicJournal |
| DOI: | 10.1038/ng.2007.45 |
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