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| 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 | | Language: | English | | 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 | | Volume: | 40 | | 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: uwe.kornak@charite.de | | 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.
| | Identifiers: | URL:http://www.nature.com/ng/journal/v40/n1/pdf/ng.200...
DOI:10.1038/ng.2007.45
ISSN:1061-4036 |
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