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          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents

ID: 411701.0, MPI für molekulare Genetik / Research Group Development and Disease
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
Corporate body:The ARCL Debré-type Study Group
Date of Publication (YYYY-MM-DD):2008-01
Title of Journal:Nature Genetics
Journal Abbrev.:Nat Genet
Issue / Number:1
Start Page:32
End Page:34
Copyright:© 2009 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Comment of the Author/Creator:Correspondence to:
Uwe Kornak1 e-mail:
External Publication Status:published
Document Type:Article
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Institute for Medical Genetics, Charité Universitaetsmedizin Berlin, Germany;
2.Laboratory for Membrane Trafficking, Center for Human Genetics, University of Leuven and Department for Molecular and Developmental Genetics, Flanders Institute for Biotechnology (VIB), B-3000 Leuven, Belgium;
3.Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6525GA Nijmegen, The Netherlands;
4.Genetic Unit, Directorate General of Health Affairs, Ministry of Health, Muscat, 113 Sultanate of Oman;
5.Cologne Center for Genomics (CCG) and Institute for Genetics, University of Cologne, 50674 Cologne, Germany;
6.Laboratory for Molecular Diagnostics, Center for Human Genetics, University of Leuven, B-3000 Leuven, Belgium;
7.Laboratory of Pediatrics and Neurology, University Medical Centre Nijmegen, 6525GA Nijmegen, The Netherlands;
8.Department of Pediatrics and Department of Genetics, Washington University, St. Louis, Missouri, 63110 USA;
9.Great Ormond Street Hospital for Children Trust NHS, London, WC1N 3JH UK;
10.Department of Pediatrics, University Medical Centre Nijmegen, 6525GA Nijmegen, The Netherlands;
11.Centre de Génétique Humaine, Centre Hospitalier Universitaire du Sart-Tilman, Université de Liège, B-4000 Liège, Belgium.
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