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
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Author / Creator
the ARCL Debré-type Study Group , ARCL Debré-type Study Group , 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 and Mundlos, Stefan
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publisher
New York: Nature Publishing Group US
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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
ARCL Debré-type Study Group
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
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
