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

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Title:	Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Author(s):	Kornak, U. Reynders, E. Dimopoulou, A. Reeuwijk, J. van (315067314) Fischer, B. Rajab, A. Budde, B. Nurnberg, P. Foulquier, F. Lefeber, D. Urban, Z. Gruenewald, S. Annaert, W. Brunner, H.G. (112228682) Bokhoven, H. van (11529077X) Wevers, R.A. (068311508) Morava, E. (298976846) Matthijs, G. Maldergem, L. van Mundlos, S.
Publication year:	2008
Document type:	Article / Letter to editor
Journal:	Nature Genetics
ISSN:	1061-4036
Volume:	vol. 40
Issue:	iss. 1
Start page:	p. 32
End page:	p. 34
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.
Subject:	NCMLS 1: Immunity, infection and tissue repair UMCN 3.1: Neuromuscular development and genetic disorders UMCN 5.1: Genetic defects of metabolism
Organization:	Human Genetics UMCN Extern Neurology
Appears in Collections:	Academic bibliography

Please use this identifier to cite or link to this item: http://hdl.handle.net/2066/69837