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Title: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
Authors: 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 #
Issue Date: Jan-2008
Publisher: Nature Publishing Group
Series Title: Nature genetics vol:40 issue:1 pages:32-4
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.
URI: 
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Molecular Genetics Section (-)
Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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