Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A...
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
About this item
Full title
Author / Creator
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 , ARCL Debré-type Study Group and the ARCL Debré-type Study Group
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
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 affe...
Alternative Titles
Full title
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
Authors, Artists and Contributors
Author / Creator
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
ARCL Debré-type Study Group
the ARCL Debré-type Study Group
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_70164469
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70164469
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.2007.45
